Lethal variants of equine pregnancy: is it the placenta or foetus leading the conceptus in the wrong direction?
Charlotte A. Shilton A , Anne Kahler A , Jessica M. Roach A , Terje Raudsepp B and Amanda M. de Mestre A *A Department of Comparative Biomedical Sciences, The Royal Veterinary College, Hawkshead Lane, Herts, AL9 7TA, UK.
B Department of Veterinary Integrative Biosciences, Texas A&M University, College Station, TX 77843-4458, USA.
Reproduction, Fertility and Development 35(2) 51-69 https://doi.org/10.1071/RD22239
Published online: 7 November 2022
© 2023 The Author(s) (or their employer(s)). Published by CSIRO Publishing on behalf of the IETS. This is an open access article distributed under the Creative Commons Attribution 4.0 International License (CC BY)
Abstract
Embryonic and foetal loss remain one of the greatest challenges in equine reproductive health with 5–10% of established day 15 pregnancies and a further 5–10% of day 70 pregnancies failing to produce a viable foal. The underlying reason for these losses is variable but ultimately most cases will be attributed to pathologies of the environment of the developing embryo and later foetus, or a defect intrinsic to the embryo itself that leads to lethality at any stage of gestation right up to birth. Historically, much research has focused on the maternal endometrium, endocrine and immune responses in pregnancy and pregnancy loss, as well as infectious agents such as pathogens, and until recently very little was known about the both small and large genetic variants associated with reduced foetal viability in the horse. In this review, we first introduce key aspects of equine placental and foetal development. We then discuss incidence, risk factors and causes of pregnancy loss, with the latter focusing on genetic variants described to date that can impact equine foetal viability.
Keywords: abortion, aneuploidy, chromosome, CNV, early pregnancy loss, embryology, equine, fetus, genetics, horse, mare, miscarriage, monosomy, placenta, pregnancy complications, pregnancy loss, SNPs, translocation, trisomy, trophoblast.
References
Alberts B, Bray D, Hopkin K, Johnson AD, Lewis J, Raff M, Roberts K, Walter P (2015) ‘Essential cell biology.’ (Garland Science)Allen, WR (2001). Luteal deficiency and embryo mortality in the mare. Reproduction in Domestic Animals 36, 121–131.
| Luteal deficiency and embryo mortality in the mare.Crossref | GoogleScholarGoogle Scholar |
Allen, WR, and Wilsher, S (2009). A review of implantation and early placentation in the mare. Placenta 30, 1005–1015.
| A review of implantation and early placentation in the mare.Crossref | GoogleScholarGoogle Scholar |
Allen, WR, and Wilsher, S (2012). The influence of mare numbers, ejaculation frequency and month on the fertility of Thoroughbred stallions. Equine Veterinary Journal 44, 535–541.
| The influence of mare numbers, ejaculation frequency and month on the fertility of Thoroughbred stallions.Crossref | GoogleScholarGoogle Scholar |
Allen, WR, Brown, L, Wright, M, and Wilsher, S (2007). Reproductive efficiency of Flatrace and National Hunt Thoroughbred mares and stallions in England. Equine Veterinary Journal 39, 438–445.
| Reproductive efficiency of Flatrace and National Hunt Thoroughbred mares and stallions in England.Crossref | GoogleScholarGoogle Scholar |
Antczak, DF, de Mestre, AM, Wilsher, S, and Allen, WR (2013). The equine endometrial cup reaction: a fetomaternal signal of significance. Annual Review of Animal Biosciences 1, 419–442.
| The equine endometrial cup reaction: a fetomaternal signal of significance.Crossref | GoogleScholarGoogle Scholar |
Aurich, C, Müller-Herbst, S, Reineking, W, Müller, E, Wohlsein, P, Gunreben, B, and Aurich, J (2019). Characterization of abortion, stillbirth and non-viable foals homozygous for the Warmblood Fragile Foal Syndrome. Animal Reproduction Science 211, 106202.
| Characterization of abortion, stillbirth and non-viable foals homozygous for the Warmblood Fragile Foal Syndrome.Crossref | GoogleScholarGoogle Scholar |
Bain, AM (1969). Foetal losses during pregnancy in the thoroughbred mare: a record of 2,562 pregnancies. New Zealand Veterinary Journal 17, 155–158.
| Foetal losses during pregnancy in the thoroughbred mare: a record of 2,562 pregnancies.Crossref | GoogleScholarGoogle Scholar |
Ball, BA, Hillman, RB, and Woods, GL (1987). Survival of equine embryos transferred to normal and subfertile mares. Theriogenology 28, 167–174.
| Survival of equine embryos transferred to normal and subfertile mares.Crossref | GoogleScholarGoogle Scholar |
Ball, BA, Little, TV, Weber, JA, and Woods, GL (1989). Survival of Day-4 embryos from young, normal mares and aged, subfertile mares after transfer to normal recipient mares. Reproduction 85, 187–194.
| Survival of Day-4 embryos from young, normal mares and aged, subfertile mares after transfer to normal recipient mares.Crossref | GoogleScholarGoogle Scholar |
Barreto, RdSN, Rodrigues, MN, Carvalho, RC, De Oliveira E. Silva, FM, Rigoglio, NN, Jacob, JCF, Gastal, EL, and Miglino, MA (2016). Organogenesis of the musculoskeletal system in horse embryos and early fetuses. The Anatomical Record 299, 722–729.
| Organogenesis of the musculoskeletal system in horse embryos and early fetuses.Crossref | GoogleScholarGoogle Scholar |
Bastos, HBA, Martinez, MN, Camozzato, GC, Estradé, MJ, Barros, E, Vital, CE, Vidigal, PMP, Meikle, A, Jobim, MIM, Gregory, RM, and Mattos, RC (2019). Proteomic profile of histotroph during early embryo development in mares. Theriogenology 125, 224–235.
| Proteomic profile of histotroph during early embryo development in mares.Crossref | GoogleScholarGoogle Scholar |
Battaglia, DE, Goodwin, P, Klein, NA, and Soules, MR (1996). Fertilization and early embryology: influence of maternal age on meiotic spindle assembly oocytes from naturally cycling women. Human Reproduction 11, 2217–2222.
| Fertilization and early embryology: influence of maternal age on meiotic spindle assembly oocytes from naturally cycling women.Crossref | GoogleScholarGoogle Scholar |
Bellone, RR, Ocampo, NR, Hughes, SS, Le, V, Arthur, R, Finno, CJ, and Penedo, MCT (2020). Warmblood fragile foal syndrome type 1 mutation (PLOD1 c.2032G>A) is not associated with catastrophic breakdown and has a low allele frequency in the Thoroughbred breed. Equine Veterinary Journal 52, 411–414.
| Warmblood fragile foal syndrome type 1 mutation (PLOD1 c.2032G>A) is not associated with catastrophic breakdown and has a low allele frequency in the Thoroughbred breed.Crossref | GoogleScholarGoogle Scholar |
Betteridge, KJ, Raeside, JI, Waelchli, RO, Christie, HL, and Hayes, MA (2018). Patterns of conceptus development and of progesterone concentrations in maternal blood preceding spontaneous early pregnancy failure in mares. Reproduction, Fertility and Development 30, 1066–1076.
| Patterns of conceptus development and of progesterone concentrations in maternal blood preceding spontaneous early pregnancy failure in mares.Crossref | GoogleScholarGoogle Scholar |
Beyer, T, Rink, BE, Scarlet, D, Walter, I, Kunert, S, and Aurich, C (2019). Early luteal phase progestin concentration influences endometrial function in pregnant mares. Theriogenology 125, 236–241.
| Early luteal phase progestin concentration influences endometrial function in pregnant mares.Crossref | GoogleScholarGoogle Scholar |
Blue, MG (1981). A cytogenetical study of prenatal loss in the mare. Theriogenology 15, 295–309.
| A cytogenetical study of prenatal loss in the mare.Crossref | GoogleScholarGoogle Scholar |
Bosh, KA, Powell, D, Neibergs, JS, Shelton, B, and Zent, W (2009a). Impact of reproductive efficiency over time and mare financial value on economic returns among Thoroughbred mares in central Kentucky. Equine Veterinary Journal 41, 889–894.
| Impact of reproductive efficiency over time and mare financial value on economic returns among Thoroughbred mares in central Kentucky.Crossref | GoogleScholarGoogle Scholar |
Bosh, KA, Powell, D, Shelton, B, and Zent, W (2009b). Reproductive performance measures among Thoroughbred mares in central Kentucky, during the 2004 mating season. Equine Veterinary Journal 41, 883–888.
| Reproductive performance measures among Thoroughbred mares in central Kentucky, during the 2004 mating season.Crossref | GoogleScholarGoogle Scholar |
Bowling, AT, and Millon, LV (1990). Two autosomal trisomies in the horse: 64,XX, −26, +t(26q26q) and 65,XX, +30. Genome 33, 679–682.
| Two autosomal trisomies in the horse: 64,XX, −26, +t(26q26q) and 65,XX, +30.Crossref | GoogleScholarGoogle Scholar |
Brito, LFC, Sertich, PL, Durkin, K, Chowdhary, BP, Turner, RM, Greene, LM, and McDonnell, S (2008). Autosomic 27 trisomy in a Standardbred colt. Journal of Equine Veterinary Science 28, 431–436.
| Autosomic 27 trisomy in a Standardbred colt.Crossref | GoogleScholarGoogle Scholar |
Bugno, M, Slota, E, and Koscielny, M (2007). Karyotype evaluation among young horse populations in Poland. Schweizer Archiv für Tierheilkunde 149, 227–232.
| Karyotype evaluation among young horse populations in Poland.Crossref | GoogleScholarGoogle Scholar |
Bugno-Poniewierska, M, and Raudsepp, T (2021). Horse clinical cytogenetics: recurrent themes and novel findings. Animals 11, 831.
| Horse clinical cytogenetics: recurrent themes and novel findings.Crossref | GoogleScholarGoogle Scholar |
Bugno-Poniewierska, M, Kozub, D, Pawlina, K, Tischner, M, Tischner, M, Słota, E, and Wnuk, M (2011). Determination of the correlation between stallion’s age and number of sex chromosome aberrations in spermatozoa. Reproduction in Domestic Animals 46, 787–792.
| Determination of the correlation between stallion’s age and number of sex chromosome aberrations in spermatozoa.Crossref | GoogleScholarGoogle Scholar |
Bugno-Poniewierska M, Wojtaszek M, Pawlina-Tyszko K, Kowalska K, Witarski W, Raudsepp T (2018) Evaluation of the prevalence of sex chromosome aberrations in a population of young horses—Preliminary results. In ‘Proceedings of the Dorothy Russell Havemeyer 12th International Horse Genome Workshop, Pavia, Italy.’ pp. 12–15.
Buoen, LC, Zhang, TQ, Weber, AF, Turner, T, Bellamy, J, and Ruth, GR (1997). Arthrogryposis in the foal and its possible relation to autosomal trisomy. Equine Veterinary Journal 29, 60–62.
| Arthrogryposis in the foal and its possible relation to autosomal trisomy.Crossref | GoogleScholarGoogle Scholar |
Byrne, J, Warburton, D, Kline, J, Blanc, W, and Stein, Z (1985). Morphology of early fetal deaths and their chromosomal characteristics. Teratology 32, 297–315.
| Morphology of early fetal deaths and their chromosomal characteristics.Crossref | GoogleScholarGoogle Scholar |
Byrne, J, Warburton, D, Opitz, JM, and Reynolds, JF (1986). Neural tube defects in spontaneous abortions. American Journal of Medical Genetics 25, 327–333.
| Neural tube defects in spontaneous abortions.Crossref | GoogleScholarGoogle Scholar |
Chavatte-Palmer, P, Derisoud, E, and Robles, M (2022). Pregnancy and placental development in horses: an update. Domestic Animal Endocrinology 79, 106692.
| Pregnancy and placental development in horses: an update.Crossref | GoogleScholarGoogle Scholar |
Chen, S, Liu, D, Zhang, J, Li, S, Zhang, L, Fan, J, Luo, Y, Qian, Y, Huang, H, Liu, C, Zhu, H, Jiang, Z, and Xu, C (2017). A copy number variation genotyping method for aneuploidy detection in spontaneous abortion specimens. Prenatal Diagnosis 37, 176–183.
| A copy number variation genotyping method for aneuploidy detection in spontaneous abortion specimens.Crossref | GoogleScholarGoogle Scholar |
Chen, L, Wang, L, Tang, F, Zeng, Y, Yin, D, Zhou, C, Zhu, H, Li, L, Zhang, L, and Wang, J (2021). Copy number variation sequencing combined with quantitative fluorescence polymerase chain reaction in clinical application of pregnancy loss. Journal of Assisted Reproduction and Genetics 38, 2397–2404.
| Copy number variation sequencing combined with quantitative fluorescence polymerase chain reaction in clinical application of pregnancy loss.Crossref | GoogleScholarGoogle Scholar |
Chevalier, F, and Palmer, E (1982). Ultrasonic echography in the mare. Journal of Reproduction and Fertility. Supplement 32, 423–430.
Claes, A, Cuervo-Arango, J, van den Broek, J, Galli, C, Colleoni, S, Lazzari, G, Deelen, C, Beitsma, M, and Stout, TA (2019). Factors affecting the likelihood of pregnancy and embryonic loss after transfer of cryopreserved in vitro produced equine embryos. Equine Veterinary Journal 51, 446–450.
| Factors affecting the likelihood of pregnancy and embryonic loss after transfer of cryopreserved in vitro produced equine embryos.Crossref | GoogleScholarGoogle Scholar |
Conley, AJ, and Ball, BA (2019). Steroids in the establishment and maintenance of pregnancy and at parturition in the mare. Reproduction 158, R197–R208.
| Steroids in the establishment and maintenance of pregnancy and at parturition in the mare.Crossref | GoogleScholarGoogle Scholar |
Coorens, THH, Oliver, TRW, Sanghvi, R, Sovio, U, Cook, E, Vento-Tormo, R, Haniffa, M, Young, MD, Rahbari, R, Sebire, N, Campbell, PJ, Charnock-Jones, DS, Smith, GCS, and Behjati, S (2021). Inherent mosaicism and extensive mutation of human placentas. Nature 592, 80–85.
| Inherent mosaicism and extensive mutation of human placentas.Crossref | GoogleScholarGoogle Scholar |
Crabtree, JR, Chang, Y, and de Mestre, AM (2012). Clinical presentation, treatment and possible causes of persistent endometrial cups illustrated by two cases. Equine Veterinary Education 24, 251–259.
| Clinical presentation, treatment and possible causes of persistent endometrial cups illustrated by two cases.Crossref | GoogleScholarGoogle Scholar |
Cuervo-Arango, J, Claes, AN, and Stout, TA (2019). A retrospective comparison of the efficiency of different assisted reproductive techniques in the horse, emphasizing the impact of maternal age. Theriogenology 132, 36–44.
| A retrospective comparison of the efficiency of different assisted reproductive techniques in the horse, emphasizing the impact of maternal age.Crossref | GoogleScholarGoogle Scholar |
D’Fonseca, NMM, Gibson, CME, Hummel, I, van Doorn, DA, Roelfsema, E, Stout, TAE, van den Broek, J, and de Ruijter-Villani, M (2021). Overfeeding extends the period of annual cyclicity but increases the risk of early embryonic death in Shetland pony mares. Animals 11, 361.
| Overfeeding extends the period of annual cyclicity but increases the risk of early embryonic death in Shetland pony mares.Crossref | GoogleScholarGoogle Scholar |
de Leon, PMM, Campos, VF, Thurow, HS, Hartwig, FP, Selau, LP, Dellagostin, OA, Neto, JB, Deschamps, JC, Seixas, FK, and Collares, T (2012). Association between single nucleotide polymorphisms in p53 and abortion in Thoroughbred mares. The Veterinary Journal 193, 573–575.
| Association between single nucleotide polymorphisms in p53 and abortion in Thoroughbred mares.Crossref | GoogleScholarGoogle Scholar |
de Mestre, AM, Rose, BV, Chang, YM, Wathes, DC, and Verheyen, KLP (2019). Multivariable analysis to determine risk factors associated with early pregnancy loss in Thoroughbred broodmares. Theriogenology 124, 18–23.
| Multivariable analysis to determine risk factors associated with early pregnancy loss in Thoroughbred broodmares.Crossref | GoogleScholarGoogle Scholar |
Derisoud, E, Auclair-Ronzaud, J, Palmer, E, Robles, M, and Chavatte-Palmer, P (2021). Female age and parity in horses: how and why does it matter? Reproduction, Fertility and Development 34, 52–116.
| Female age and parity in horses: how and why does it matter?Crossref | GoogleScholarGoogle Scholar |
Dias, NM, de Andrade, DGA, Teixeira-Neto, AR, Trinque, CM, de Oliveira-Filho, JP, Winand, NJ, Araújo, JP, and Borges, AS (2019). Warmblood Fragile Foal Syndrome causative single nucleotide polymorphism frequency in Warmblood horses in Brazil. The Veterinary Journal 248, 101–102.
| Warmblood Fragile Foal Syndrome causative single nucleotide polymorphism frequency in Warmblood horses in Brazil.Crossref | GoogleScholarGoogle Scholar |
Dijkstra, A, Cuervo-Arango, J, Stout, TAE, and Claes, A (2020). Monozygotic multiple pregnancies after transfer of single in vitro produced equine embryos. Equine Veterinary Journal 52, 258–261.
| Monozygotic multiple pregnancies after transfer of single in vitro produced equine embryos.Crossref | GoogleScholarGoogle Scholar |
Ducro, BJ, Schurink, A, Bastiaansen, JWM, Boegheim, IJM, van Steenbeek, FG, Vos-Loohuis, M, Nijman, IJ, Monroe, GR, Hellinga, I, Dibbits, BW, Back, W, and Leegwater, PAJ (2015). A nonsense mutation in B3GALNT2 is concordant with hydrocephalus in Friesian horses. BMC Genomics 16, 761.
| A nonsense mutation in B3GALNT2 is concordant with hydrocephalus in Friesian horses.Crossref | GoogleScholarGoogle Scholar |
Durkin K, Raudsepp T, Chowdhary BP (2011) Cytogenetic evaluation of the stallion. In ‘Equine reproduction’. (Eds AO McKinnon, WE Vaala, DD Varner) pp. 1462–1468. (Wiley Blackwell)
Ernst, LM, Rand, CM, Bao, R, Andrade, J, Linn, RL, Minturn, L, Zhang, C, Kang, W, and Weese-Mayer, DE (2015). Stillbirth: genome-wide copy number variation profiling in archived placental umbilical cord samples with pathologic and clinical correlation. Placenta 36, 783–789.
| Stillbirth: genome-wide copy number variation profiling in archived placental umbilical cord samples with pathologic and clinical correlation.Crossref | GoogleScholarGoogle Scholar |
Fan, L, Wu, J, Wu, Y, Shi, X, Xin, X, Li, S, Zeng, W, Deng, D, Feng, L, Chen, S, and Xiao, J (2020). Analysis of chromosomal copy number in first-trimester pregnancy loss using next-generation sequencing. Frontiers in Genetics 11, 545856.
| Analysis of chromosomal copy number in first-trimester pregnancy loss using next-generation sequencing.Crossref | GoogleScholarGoogle Scholar |
Fawcett, JA, Innan, H, Tsuchiya, T, and Sato, F (2021). Effect of advancing age on the reproductive performance of Japanese Thoroughbred broodmares. Journal of Equine Science 32, 31–37.
| Effect of advancing age on the reproductive performance of Japanese Thoroughbred broodmares.Crossref | GoogleScholarGoogle Scholar |
Felix, MR, Turner, RM, Dobbie, T, and Hinrichs, K (2022). Successful in vitro fertilization in the horse: production of blastocysts and birth of foals after prolonged sperm incubation for capacitation. Biology of Reproduction , ioac172.
| Successful in vitro fertilization in the horse: production of blastocysts and birth of foals after prolonged sperm incubation for capacitation.Crossref | GoogleScholarGoogle Scholar |
Ferris, RA, Sonnis, J, Webb, B, Lindholm, A, and Hassel, D (2011). Hydrocephalus in an American Miniature Horse foal: a case report and review. Journal of Equine Veterinary Science 31, 611–614.
| Hydrocephalus in an American Miniature Horse foal: a case report and review.Crossref | GoogleScholarGoogle Scholar |
Flood, PF, Betteridge, KJ, and Diocee, MS (1982). Transmission electron microscopy of horse embryos 3-16 days after ovulation. Journal of Reproduction and Fertility. Supplement 32, 319–327.
Fowden, AL, Giussani, DA, and Forhead, AJ (2020). Physiological development of the equine fetus during late gestation. Equine Veterinary Journal 52, 165–173.
| Physiological development of the equine fetus during late gestation.Crossref | GoogleScholarGoogle Scholar |
Franciolli, ALR, Cordeiro, BM, da Fonseca, ET, Rodrigues, MN, Sarmento, CAP, Ambrosio, CE, de Carvalho, AF, Miglino, MA, and Silva, LA (2011). Characteristics of the equine embryo and fetus from days 15 to 107 of pregnancy. Theriogenology 76, 819–832.
| Characteristics of the equine embryo and fetus from days 15 to 107 of pregnancy.Crossref | GoogleScholarGoogle Scholar |
Franciosi, F, Tessaro, I, Dalbies-Tran, R, Douet, C, Reigner, F, Deleuze, S, Papillier, P, Miclea, I, Lodde, V, Luciano, AM, and Goudet, G (2017). Analysis of chromosome segregation, histone acetylation, and spindle morphology in horse oocytes. Journal of Visualized Experiments , e55242.
| Analysis of chromosome segregation, histone acetylation, and spindle morphology in horse oocytes.Crossref | GoogleScholarGoogle Scholar |
Gaivão, MMF, Rambags, BPB, and Stout, TAE (2014). Gastrulation and the establishment of the three germ layers in the early horse conceptus. Theriogenology 82, 354–365.
| Gastrulation and the establishment of the three germ layers in the early horse conceptus.Crossref | GoogleScholarGoogle Scholar |
Ghosh, S, Qu, Z, Das, PJ, Fang, E, Juras, R, Cothran, EG, McDonell, S, Kenney, DG, Lear, TL, Adelson, DL, Chowdhary, BP, and Raudsepp, T (2014). Copy number variation in the horse genome. PLoS Genetics 10, e1004712.
| Copy number variation in the horse genome.Crossref | GoogleScholarGoogle Scholar |
Ghosh, S, Das, PJ, Avila, F, Thwaits, BK, Chowdhary, BP, and Raudsepp, T (2016). A non-reciprocal autosomal translocation 64,XX, t(4;10)(q21;p15) in an Arabian mare with repeated early embryonic loss. Reproduction in Domestic Animals 51, 171–174.
| A non-reciprocal autosomal translocation 64,XX, t(4;10)(q21;p15) in an Arabian mare with repeated early embryonic loss.Crossref | GoogleScholarGoogle Scholar |
Ghosh, S, Carden, CF, Juras, R, Mendoza, MN, Jevit, MJ, Castaneda, C, Phelps, O, Dube, J, Kelley, DE, Varner, DD, Love, CC, and Raudsepp, T (2020). Two novel cases of autosomal translocations in the horse: Warmblood family segregating t(4;30) and a cloned Arabian with a de novo t(12;25). Cytogenetic and Genome Research 160, 688–697.
| Two novel cases of autosomal translocations in the horse: Warmblood family segregating t(4;30) and a cloned Arabian with a de novo t(12;25).Crossref | GoogleScholarGoogle Scholar |
Giles, RC, Donahue, JM, Hong, CB, Tuttle, PA, Petrites-Murphy, MB, Poonacha, KB, Roberts, AW, Tramontin, RR, Smith, B, and Swerczek, TW (1993). Causes of abortion, stillbirth, and perinatal death in horses: 3,527 cases (1986–1991). Journal of the American Veterinary Medical Association 203, 1170–1175.
Ginther, OJ (1985). Embryonic loss in mares: incidence, time of occurrence, and hormonal involvement. Theriogenology 23, 77–89.
| Embryonic loss in mares: incidence, time of occurrence, and hormonal involvement.Crossref | GoogleScholarGoogle Scholar |
Ginther OJ (1998) Equine pregnancy: physical interactions between the uterus and conceptus. In ‘Proceedings of the American Association of Equine Practitioners’. pp. 73–104.
Ginther, OJ, and Griffin, PG (1994). Natural outcome and ultrasonic identification of equine fetal twins. Theriogenology 41, 1193–1199.
| Natural outcome and ultrasonic identification of equine fetal twins.Crossref | GoogleScholarGoogle Scholar |
Girirajan, S, Brkanac, Z, Coe, BP, Baker, C, Vives, L, Vu, TH, Shafer, N, Bernier, R, Ferrero, GB, Silengo, M, Warren, ST, Moreno, CS, Fichera, M, Romano, C, Raskind, WH, and Eichler, EE (2011). Relative burden of large CNVs on a range of neurodevelopmental phenotypes. PLoS Genetics 7, e1002334.
| Relative burden of large CNVs on a range of neurodevelopmental phenotypes.Crossref | GoogleScholarGoogle Scholar |
Govaere, J, Hoogewijs, M, De Schauwer, C, Van Zeveren, A, Smits, K, Cornillie, P, and de Kruif, A (2009). An abortion of monozygotic twins in a warmblood mare. Reproduction in Domestic Animals = Zuchthygiene 44, 852–854.
| An abortion of monozygotic twins in a warmblood mare.Crossref | GoogleScholarGoogle Scholar |
Grillos, AS, Roach, JM, de Mestre, AM, Foote, AK, Kinglsey, NB, Mienaltowski, MJ, and Bellone, RR (2022). First reported case of fragile foal syndrome type 1 in the Thoroughbred caused by PLOD1 c.2032G>A. Equine Veterinary Journal 54, 1086–1093.
| First reported case of fragile foal syndrome type 1 in the Thoroughbred caused by PLOD1 c.2032G>A.Crossref | GoogleScholarGoogle Scholar |
Grüninger, B, Schoon, H-A, Schoon, D, Menger, S, and Klug, E (1998). Incidence and morphology of endometrial angiopathies in mares in relationship to age and parity. Journal of Comparative Pathology 119, 293–309.
| Incidence and morphology of endometrial angiopathies in mares in relationship to age and parity.Crossref | GoogleScholarGoogle Scholar |
Guy, GP, Hargrave, J, Dunn, R, Price, K, Short, J, Thilaganathan, B, on behalf of the SAFE test collaborative (2021). Secondary non-invasive prenatal screening for fetal trisomy: an effectiveness study in a public health setting. BJOG: An International Journal of Obstetrics & Gynaecology 128, 440–446.
| Secondary non-invasive prenatal screening for fetal trisomy: an effectiveness study in a public health setting.Crossref | GoogleScholarGoogle Scholar |
Hamstead, L, Chang, Y-M, Crowhurst, J, Wise, Z, McGladdery, A, Ricketts, S, and de Mestre, AM (2012). Retrospective study of early pregnancy loss in Thoroughbred mares. Equine Veterinary Journal 44, 5.
Hanahan, D, and Weinberg, RA (2011). Hallmarks of cancer: the next generation. Cell 144, 646–674.
| Hallmarks of cancer: the next generation.Crossref | GoogleScholarGoogle Scholar |
Hanlon, DW, Stevenson, M, Evans, MJ, and Firth, EC (2012). Reproductive performance of Thoroughbred mares in the Waikato region of New Zealand: 2. Multivariable analyses and sources of variation at the mare, stallion and stud farm level. New Zealand Veterinary Journal 60, 335–343.
| Reproductive performance of Thoroughbred mares in the Waikato region of New Zealand: 2. Multivariable analyses and sources of variation at the mare, stallion and stud farm level.Crossref | GoogleScholarGoogle Scholar |
Harris, RA, Ferrari, F, Ben-Shachar, S, Wang, X, Saade, G, Van Den Veyver, I, Facchinetti, F, and Aagaard-Tillery, K (2011). Genome-wide array-based copy number profiling in human placentas from unexplained stillbirths. Prenatal Diagnosis 31, 932–944.
| Genome-wide array-based copy number profiling in human placentas from unexplained stillbirths.Crossref | GoogleScholarGoogle Scholar |
Hassold, T, Hall, H, and Hunt, P (2007). The origin of human aneuploidy: where we have been, where we are going. Human Molecular Genetics 16, R203–R208.
| The origin of human aneuploidy: where we have been, where we are going.Crossref | GoogleScholarGoogle Scholar |
Haynes, SE, and Reisner, AH (1982). Cytogenetic and DNA analyses of equine abortion. Cytogenetic and Genome Research 34, 204–214.
| Cytogenetic and DNA analyses of equine abortion.Crossref | GoogleScholarGoogle Scholar |
Hemberg, E, Lundeheim, N, and Einarsson, S (2004). Reproductive performance of Thoroughbred mares in Sweden. Reproduction in Domestic Animals 39, 81–85.
| Reproductive performance of Thoroughbred mares in Sweden.Crossref | GoogleScholarGoogle Scholar |
Holl, HM, Lear, TL, Nolen-Walston, RD, Slack, J, and Brooks, SA (2013). Detection of two equine trisomies using SNP-CGH. Mammalian Genome 24, 252–256.
| Detection of two equine trisomies using SNP-CGH.Crossref | GoogleScholarGoogle Scholar |
Hollinshead, FK, Mehegan, MK, Gunn, A, Nett, T, Bruemmer, JE, and Hanlon, DW (2022). The correlation of endogenous progesterone concentration in diestrus on early pregnancy rate in Thoroughbred mares. Journal of Equine Veterinary Science 118, 104127.
| The correlation of endogenous progesterone concentration in diestrus on early pregnancy rate in Thoroughbred mares.Crossref | GoogleScholarGoogle Scholar |
Hong, CB, Donahue, JM, Giles, RC, Petrites-Murphy, MB, Poonacha, KB, Roberts, AW, Smith, BJ, Tramontin, RR, Tuttle, PA, and Swerczek, TW (1993). Equine abortion and stillbirth in Central Kentucky during 1988 and 1989 foaling seasons. Journal of Veterinary Diagnostic Investigation 5, 560–566.
| Equine abortion and stillbirth in Central Kentucky during 1988 and 1989 foaling seasons.Crossref | GoogleScholarGoogle Scholar |
Hornak, M, Oracova, E, Hulinska, P, Urbankova, L, and Rubes, J (2012). Aneuploidy detection in pigs using comparative genomic hybridization: from the oocytes to blastocysts. PLoS ONE 7, e30335.
| Aneuploidy detection in pigs using comparative genomic hybridization: from the oocytes to blastocysts.Crossref | GoogleScholarGoogle Scholar |
Hwang, S, Cavaliere, P, Li, R, Zhu, LJ, Dephoure, N, and Torres, EM (2021). Consequences of aneuploidy in human fibroblasts with trisomy 21. Proceedings of the National Academy of Sciences of the United States of America 118, e2014723118.
| Consequences of aneuploidy in human fibroblasts with trisomy 21.Crossref | GoogleScholarGoogle Scholar |
Irvine, CH, Sutton, P, Turner, JE, and Mennick, PE (1990). Changes in plasma progesterone concentrations from Days 17 to 42 of gestation in mares maintaining or losing pregnancy. Equine Veterinary Journal 22, 104–106.
| Changes in plasma progesterone concentrations from Days 17 to 42 of gestation in mares maintaining or losing pregnancy.Crossref | GoogleScholarGoogle Scholar |
Irwin, CF (1975). Early pregnancy testing and its relationship to abortion. Journal of Reproduction and Fertility. Supplement , 485–488.
Jeffcott, LB, and Whitwell, KE (1973). Twinning as a cause of foetal and neonatal loss in the Thoroughbred mare. Journal of Comparative Pathology 83, 91–106.
| Twinning as a cause of foetal and neonatal loss in the Thoroughbred mare.Crossref | GoogleScholarGoogle Scholar |
Jia, C-W, Wang, L, Lan, Y-L, Song, R, Zhou, L-Y, Yu, L, Yang, Y, Liang, Y, Li, Y, Ma, Y-M, and Wang, S-Y (2015). Aneuploidy in early miscarriage and its related factors. Chinese Medical Journal 128, 2772–2776.
| Aneuploidy in early miscarriage and its related factors.Crossref | GoogleScholarGoogle Scholar |
Kadivar, A, Rashidzadeh, H, Davoodian, N, Nazari, H, Dehghani Tafti, R, Heidari Khoei, H, Seidi Samani, H, Modaresi, J, and Ahmadi, E (2021). Evaluation of the efficiency of TaqMan duplex real-time PCR assay for noninvasive prenatal assessment of fetal sex in equine. Reproduction in Domestic Animals 56, 287–291.
| Evaluation of the efficiency of TaqMan duplex real-time PCR assay for noninvasive prenatal assessment of fetal sex in equine.Crossref | GoogleScholarGoogle Scholar |
Kahler, A, McGonnell, IM, Smart, H, Kowalski, AA, Smith, KC, Wathes, DC, and de Mestre, AM (2021). Fetal morphological features and abnormalities associated with equine early pregnancy loss. Equine Veterinary Journal 53, 530–541.
| Fetal morphological features and abnormalities associated with equine early pregnancy loss.Crossref | GoogleScholarGoogle Scholar |
Karim, S, Jamal, HS, Rouzi, A, Ardawi, MSM, Schulten, H-J, Mirza, Z, Alansari, NA, Al-Quaiti, MM, Abusamra, H, Naseer, MI, Turki, R, Chaudhary, AG, Gari, M, Abuzenadah, AM, and Al-Qhatani, MH (2017). Genomic answers for recurrent spontaneous abortion in Saudi Arabia: an array comparative genomic hybridization approach. Reproductive Biology 17, 133–143.
| Genomic answers for recurrent spontaneous abortion in Saudi Arabia: an array comparative genomic hybridization approach.Crossref | GoogleScholarGoogle Scholar |
Kasak, L, Rull, K, Vaas, P, Teesalu, P, and Laan, M (2015). Extensive load of somatic CNVs in the human placenta. Scientific Reports 5, 8342.
| Extensive load of somatic CNVs in the human placenta.Crossref | GoogleScholarGoogle Scholar |
Kasak, L, Rull, K, Sõber, S, and Laan, M (2017). Copy number variation profile in the placental and parental genomes of recurrent pregnancy loss families. Scientific Reports 7, 45327.
| Copy number variation profile in the placental and parental genomes of recurrent pregnancy loss families.Crossref | GoogleScholarGoogle Scholar |
Kasarskis, A, Manova, K, and Anderson, KV (1998). A phenotype-based screen for embryonic lethal mutations in the mouse. Proceedings of the National Academy of Sciences of the United States of America 95, 7485–7490.
| A phenotype-based screen for embryonic lethal mutations in the mouse.Crossref | GoogleScholarGoogle Scholar |
Katila, T, and Ferreira-Dias, G (2022). Evolution of the concepts of endometrosis, post breeding endometritis, and susceptibility of mares. Animals 12, 779.
| Evolution of the concepts of endometrosis, post breeding endometritis, and susceptibility of mares.Crossref | GoogleScholarGoogle Scholar |
Kloosterman, WP, Francioli, LC, Hormozdiari, F, Marschall, T, Hehir-Kwa, JY, Abdellaoui, A, Lameijer, E-W, Moed, MH, Koval, V, Renkens, I, van Roosmalen, MJ, Arp, P, Karssen, LC, Coe, BP, Handsaker, RE, Suchiman, ED, Cuppen, E, Thung, DT, McVey, M, Wendl, MC, van Duijn, CM, Swertz, MA, Wijmenga, C, van Ommen, GJB, Slagboom, PE, Boomsma, DI, Schönhuth, A, Eichler, EE, de Bakker, PIW, Ye, K, and Guryev, V (2015). Characteristics of de novo structural changes in the human genome. Genome Research 25, 792–801.
| Characteristics of de novo structural changes in the human genome.Crossref | GoogleScholarGoogle Scholar |
Klunder, LR, McFeely, RA, Beech, J, McClune, W, and Bilinski, WF (1989). Autosomal trisomy in a Standardbred colt. Equine Veterinary Journal 21, 69–70.
| Autosomal trisomy in a Standardbred colt.Crossref | GoogleScholarGoogle Scholar |
Köhne, M, Kuhl, J, Ille, N, Erber, R, and Aurich, C (2014). Treatment with human chorionic gonadotrophin before ovulation increases progestin concentration in early equine pregnancies. Animal Reproduction Science 149, 187–193.
| Treatment with human chorionic gonadotrophin before ovulation increases progestin concentration in early equine pregnancies.Crossref | GoogleScholarGoogle Scholar |
Kolb, DS, and Klein, C (2019). Congenital hydrocephalus in a Belgian draft horse associated with a nonsense mutation in B3GALNT2. The Canadian Veterinary Journal 60, 197–198.
Kubien, EM, and Tischner, M (2002). Reproductive success of a mare with a mosaic karyotype: 64,XX/65,XX,+30. Equine Veterinary Journal 34, 99–100.
| Reproductive success of a mare with a mosaic karyotype: 64,XX/65,XX,+30.Crossref | GoogleScholarGoogle Scholar |
Lane, EA, Bijnen, MLJ, Osborne, M, More, SJ, Henderson, ISF, Duffy, P, and Crowe, MA (2016). Key factors affecting reproductive success of Thoroughbred mares and stallions on a commercial stud farm. Reproduction in Domestic Animals 51, 181–187.
| Key factors affecting reproductive success of Thoroughbred mares and stallions on a commercial stud farm.Crossref | GoogleScholarGoogle Scholar |
Lazzari, G, Colleoni, S, Crotti, G, Turini, P, Fiorini, G, Barandalla, M, Landriscina, L, Dolci, G, Benedetti, M, Duchi, R, and Galli, C (2020). Laboratory production of equine embryos. Journal of Equine Veterinary Science 89, 103097.
| Laboratory production of equine embryos.Crossref | GoogleScholarGoogle Scholar |
Lear, TL, and Layton, G (2002). Use of Zoo-FISH to characterise a reciprocal translocation in a Thoroughbred mare: t(1;16)(q16;q21.3). Equine Veterinary Journal 34, 207–209.
| Use of Zoo-FISH to characterise a reciprocal translocation in a Thoroughbred mare: t(1;16)(q16;q21.3).Crossref | GoogleScholarGoogle Scholar |
Lear, TL, Cox, JH, and Kennedy, GA (1999). Autosomal trisomy in a Thoroughbred colt: 65,XY,+31. Equine Veterinary Journal 31, 85–88.
| Autosomal trisomy in a Thoroughbred colt: 65,XY,+31.Crossref | GoogleScholarGoogle Scholar |
Lear, TL, Lundquist, J, Zent, WW, Fishback, WD, and Clark, A (2008). Three autosomal chromosome translocations associated with repeated early embryonic loss (REEL) in the domestic horse (Equus caballus). Cytogenetic and Genome Research 120, 117–122.
| Three autosomal chromosome translocations associated with repeated early embryonic loss (REEL) in the domestic horse (Equus caballus).Crossref | GoogleScholarGoogle Scholar |
Lear, TL, Raudsepp, T, Lundquist, JM, and Brown, SE (2014). Repeated early embryonic loss in a Thoroughbred mare with a chromosomal translocation [64,XX,t(2;13)]. Journal of Equine Veterinary Science 34, 805–809.
| Repeated early embryonic loss in a Thoroughbred mare with a chromosomal translocation [64,XX,t(2;13)].Crossref | GoogleScholarGoogle Scholar |
Levy, B, Sigurjonsson, S, Pettersen, B, Maisenbacher, MK, Hall, MP, Demko, Z, Lathi, RB, Tao, R, Aggarwal, V, and Rabinowitz, M (2014). Genomic imbalance in products of conception: single-nucleotide polymorphism chromosomal microarray analysis. Obstetrics & Gynecology 124, 202–209.
| Genomic imbalance in products of conception: single-nucleotide polymorphism chromosomal microarray analysis.Crossref | GoogleScholarGoogle Scholar |
Li, H, Liu, M, Xie, M, Zhang, Q, Xiang, J, Duan, C, Ding, Y, Liu, Y, Mao, J, Wang, T, and Li, H (2018). Submicroscopic chromosomal imbalances contribute to early abortion. Molecular Cytogenetics 11, 41.
| Submicroscopic chromosomal imbalances contribute to early abortion.Crossref | GoogleScholarGoogle Scholar |
Long, SE (1996). Tandem 1;30 translocation: a new structural abnormality in the horse (Equus caballus). Cytogenetic and Genome Research 72, 162–163.
| Tandem 1;30 translocation: a new structural abnormality in the horse (Equus caballus).Crossref | GoogleScholarGoogle Scholar |
Macdonald, AA, Chavatte, P, and Fowden, AL (2000). Scanning electron microscopy of the microcotyledonary placenta of the horse (Equus caballus) in the latter half of gestation. Placenta 21, 565–574.
| Scanning electron microscopy of the microcotyledonary placenta of the horse (Equus caballus) in the latter half of gestation.Crossref | GoogleScholarGoogle Scholar |
Macleay, CM, Carrick, J, Shearer, P, Begg, A, Stewart, M, Heller, J, Chicken, C, and Brookes, VJ (2022). A scoping review of the global distribution of causes and syndromes associated with mid- to late-term pregnancy loss in horses between 1960 and 2020. Veterinary Sciences 9, 186.
| A scoping review of the global distribution of causes and syndromes associated with mid- to late-term pregnancy loss in horses between 1960 and 2020.Crossref | GoogleScholarGoogle Scholar |
Martin RH (2007) The clinical relevance of sperm aneuploidy. In ‘The genetics of male infertility’. (Ed. DT Carrell) pp. 129–144. (Humana Press)
Meadows, SJ, Binns, MM, Newcombe, JR, Thompson, CJ, and Rossdale, PD (1995). Identical triplets in a Thoroughbred mare. Equine Veterinary Journal 27, 394–397.
| Identical triplets in a Thoroughbred mare.Crossref | GoogleScholarGoogle Scholar |
Mendoza, MN, Schalnus, SA, Thomson, B, Bellone, RR, Juras, R, and Raudsepp, T (2020). Novel complex unbalanced dicentric X-autosome rearrangement in a Thoroughbred mare with a mild effect on the phenotype. Cytogenetic and Genome Research 160, 597–609.
| Novel complex unbalanced dicentric X-autosome rearrangement in a Thoroughbred mare with a mild effect on the phenotype.Crossref | GoogleScholarGoogle Scholar |
Mikwar, M, MacFarlane, AJ, and Marchetti, F (2020). Mechanisms of oocyte aneuploidy associated with advanced maternal age. Mutation Research/Reviews in Mutation Research 785, 108320.
| Mechanisms of oocyte aneuploidy associated with advanced maternal age.Crossref | GoogleScholarGoogle Scholar |
Miyakoshi, D, Shikichi, M, Ito, K, Iwata, K, Okai, K, Sato, F, and Nambo, Y (2012). Factors influencing the frequency of pregnancy loss among Thoroughbred mares in Hidaka, Japan. Journal of Equine Veterinary Science 32, 552–557.
| Factors influencing the frequency of pregnancy loss among Thoroughbred mares in Hidaka, Japan.Crossref | GoogleScholarGoogle Scholar |
Monthoux, C, de Brot, S, Jackson, M, Bleul, U, and Walter, J (2015). Skin malformations in a neonatal foal tested homozygous positive for Warmblood Fragile Foal Syndrome. BMC Veterinary Research 11, 12.
| Skin malformations in a neonatal foal tested homozygous positive for Warmblood Fragile Foal Syndrome.Crossref | GoogleScholarGoogle Scholar |
Morehead, JP, Blanchard, TL, Thompson, JA, and Brinsko, SP (2002). Evaluation of early fetal losses on four equine farms in central Kentucky: 73 cases (2001). Journal of the American Veterinary Medical Association 220, 1828–1830.
| Evaluation of early fetal losses on four equine farms in central Kentucky: 73 cases (2001).Crossref | GoogleScholarGoogle Scholar |
Morley, PS, and Townsend, HGG (1997). A survey of reproductive performance in Thoroughbred mares and morbidity, mortality and athletic potential of their foals. Equine Veterinary Journal 29, 290–297.
| A survey of reproductive performance in Thoroughbred mares and morbidity, mortality and athletic potential of their foals.Crossref | GoogleScholarGoogle Scholar |
Morris, LH, and Allen, WR (2002). Reproductive efficiency of intensively managed Thoroughbred mares in Newmarket. Equine Veterinary Journal 34, 51–60.
| Reproductive efficiency of intensively managed Thoroughbred mares in Newmarket.Crossref | GoogleScholarGoogle Scholar |
Morris, LHA, McCue, PM, and Aurich, C (2020). Equine endometritis: a review of challenges and new approaches. Reproduction 160, R95–R110.
| Equine endometritis: a review of challenges and new approaches.Crossref | GoogleScholarGoogle Scholar |
Mouncey, R, Arango-Sabogal, JC, de Mestre, AM, Foote, AK, and Verheyen, KL (2022). Retrospective analysis of post-mortem findings in Thoroughbreds aged from birth to 18 months presented to a UK pathology laboratory. The Veterinary Journal 281, 105813.
| Retrospective analysis of post-mortem findings in Thoroughbreds aged from birth to 18 months presented to a UK pathology laboratory.Crossref | GoogleScholarGoogle Scholar |
Nagirnaja, L, Palta, P, Kasak, L, Rull, K, Christiansen, OB, Nielsen, HS, Steffensen, R, Esko, T, Remm, M, and Laan, M (2014). Structural genomic variation as risk factor for idiopathic recurrent miscarriage. Human Mutation 35, 972–982.
| Structural genomic variation as risk factor for idiopathic recurrent miscarriage.Crossref | GoogleScholarGoogle Scholar |
Nath, LC, Anderson, GA, and McKinnon, AO (2010). Reproductive efficiency of Thoroughbred and Standardbred horses in north-east Victoria. Australian Veterinary Journal 88, 169–175.
| Reproductive efficiency of Thoroughbred and Standardbred horses in north-east Victoria.Crossref | GoogleScholarGoogle Scholar |
Nieto-Olmedo, P, Martín-Cano, FE, Gaitskell-Phillips, G, Ortiz-Rodríguez, JM, Peña, FJ, and Ortega-Ferrusola, C (2020). Power Doppler can detect the presence of 7–8 day conceptuses prior to flushing in an equine embryo transfer program. Theriogenology 145, 1–9.
| Power Doppler can detect the presence of 7–8 day conceptuses prior to flushing in an equine embryo transfer program.Crossref | GoogleScholarGoogle Scholar |
Ojala, M, and Ala-Huikku, J (1992). Inheritance of hydrocephalus in horses. Equine Veterinary Journal 24, 140–143.
| Inheritance of hydrocephalus in horses.Crossref | GoogleScholarGoogle Scholar |
Okada, CTC, Kaps, M, Perez Quesada, J, Gautier, C, Aurich, J, and Aurich, C (2020). Diestrous ovulations in pregnant mares as a response to low early postovulatory progestogen concentration. Animals 10, 2249.
| Diestrous ovulations in pregnant mares as a response to low early postovulatory progestogen concentration.Crossref | GoogleScholarGoogle Scholar |
Oriol, JG, Sharom, FJ, and Betteridge, KJ (1993). Developmentally regulated changes in the glycoproteins of the equine embryonic capsule. Reproduction 99, 653–664.
| Developmentally regulated changes in the glycoproteins of the equine embryonic capsule.Crossref | GoogleScholarGoogle Scholar |
Orlando, L, and Librado, P (2019). Origin and evolution of deleterious mutations in horses. Genes 10, 649.
| Origin and evolution of deleterious mutations in horses.Crossref | GoogleScholarGoogle Scholar |
Outram, AK, Stear, NA, Bendrey, R, Olsen, S, Kasparov, A, Zaibert, V, Thorpe, N, and Evershed, RP (2009). The earliest horse harnessing and milking. Science 323, 1332–1335.
| The earliest horse harnessing and milking.Crossref | GoogleScholarGoogle Scholar |
Pannu, AS, and Singh, P (2014). Dystocia due to fetal hydrocephalus and its management in a mare. Intas Polivet 15, 363–364.
Power, MM (1987). Equine half sibs with an unbalanced X;15 translocation or trisomy 28. Cytogenetic and Genome Research 45, 163–168.
| Equine half sibs with an unbalanced X;15 translocation or trisomy 28.Crossref | GoogleScholarGoogle Scholar |
Power, MM (1991). The first description of a balanced reciprocal translocation [t(1q;3q)] and its clinical effects in a mare. Equine Veterinary Journal 23, 146–149.
| The first description of a balanced reciprocal translocation [t(1q;3q)] and its clinical effects in a mare.Crossref | GoogleScholarGoogle Scholar |
Power, MM, Gustavsson, I, Świtoński, M, and Plöen, L (1992). Synaptonemal complex analysis of an autosomal trisomy in the horse. Cytogenetic and Genome Research 61, 202–207.
| Synaptonemal complex analysis of an autosomal trisomy in the horse.Crossref | GoogleScholarGoogle Scholar |
PriceWaterhouseCoopers LLP (2018) The contribution of thoroughbred breeding to the UK economy and factors impacting the industry’s supply chain. Available from: https://www.thetba.co.uk/wp-content/uploads/2018/09/TBA-Economic-Impact-Study-2018.pdf [Accessed 1 August 2022]
Quenby, S, Gallos, ID, Dhillon-Smith, RK, Podesek, M, Stephenson, MD, Fisher, J, Brosens, JJ, Brewin, J, Ramhorst, R, Lucas, ES, McCoy, RC, Anderson, R, Daher, S, Regan, L, Al-Memar, M, Bourne, T, MacIntyre, DA, Rai, R, Christiansen, OB, Sugiura-Ogasawara, M, Odendaal, J, Devall, AJ, Bennett, PR, Petrou, S, and Coomarasamy, A (2021). Miscarriage matters: the epidemiological, physical, psychological, and economic costs of early pregnancy loss. The Lancet 397, 1658–1667.
| Miscarriage matters: the epidemiological, physical, psychological, and economic costs of early pregnancy loss.Crossref | GoogleScholarGoogle Scholar |
Rajcan-Separovic, E, Diego-Alvarez, D, Robinson, WP, Tyson, C, Qiao, Y, Harvard, C, Fawcett, C, Kalousek, D, Philipp, T, Somerville, MJ, and Stephenson, MD (2010a). Identification of copy number variants in miscarriages from couples with idiopathic recurrent pregnancy loss. Human Reproduction 25, 2913–2922.
| Identification of copy number variants in miscarriages from couples with idiopathic recurrent pregnancy loss.Crossref | GoogleScholarGoogle Scholar |
Rajcan-Separovic, E, Qiao, Y, Tyson, C, Harvard, C, Fawcett, C, Kalousek, D, Stephenson, M, and Philipp, T (2010b). Genomic changes detected by array CGH in human embryos with developmental defects. Molecular Human Reproduction 16, 125–134.
| Genomic changes detected by array CGH in human embryos with developmental defects.Crossref | GoogleScholarGoogle Scholar |
Rambags, B, Krijtenburg, P, Drie, Hv, Lazzari, G, Galli, C, Pearson, P, Colenbrander, B, and Stout, T (2005). Numerical chromosomal abnormalities in equine embryos produced in vivo and in vitro. Molecular Reproduction and Development 72, 77–87.
| Numerical chromosomal abnormalities in equine embryos produced in vivo and in vitro.Crossref | GoogleScholarGoogle Scholar |
Raudsepp, T (2020). Genetics of equine reproductive diseases. Veterinary Clinics of North America: Equine Practice 36, 395–409.
| Genetics of equine reproductive diseases.Crossref | GoogleScholarGoogle Scholar |
Raudsepp, T, Finno, CJ, Bellone, RR, and Petersen, JL (2019). Ten years of the horse reference genome: insights into equine biology, domestication and population dynamics in the post-genome era. Animal Genetics 50, 569–597.
| Ten years of the horse reference genome: insights into equine biology, domestication and population dynamics in the post-genome era.Crossref | GoogleScholarGoogle Scholar |
Read, JE, Cabrera-Sharp, V, Offord, V, Mirczuk, SM, Allen, SP, Fowkes, RC, and de Mestre, AM (2018). Dynamic changes in gene expression and signalling during trophoblast development in the horse. Reproduction 156, 313–330.
| Dynamic changes in gene expression and signalling during trophoblast development in the horse.Crossref | GoogleScholarGoogle Scholar |
Reddy, UM, Goldenberg, R, Silver, R, Smith, GCS, Pauli, RM, Wapner, RJ, et al. (2009). Stillbirth classification—developing an international consensus for research: executive summary of a National Institute of Child Health and Human Development workshop. Obstetrics & Gynecology 114, 901–914.
| Stillbirth classification—developing an international consensus for research: executive summary of a National Institute of Child Health and Human Development workshop.Crossref | GoogleScholarGoogle Scholar |
Reiter, S, Wallner, B, Brem, G, Haring, E, Hoelzle, L, Stefaniuk-Szmukier, M, Długosz, B, Piórkowska, K, Ropka-Molik, K, Malvick, J, Penedo, MCT, and Bellone, RR (2020). Distribution of the Warmblood Fragile Foal Syndrome type 1 mutation (PLOD1 c.2032G>A) in different horse breeds from Europe and the United States. Genes 11, 1518.
| Distribution of the Warmblood Fragile Foal Syndrome type 1 mutation (PLOD1 c.2032G>A) in different horse breeds from Europe and the United States.Crossref | GoogleScholarGoogle Scholar |
Resende, HL, Carmo, MT, Ramires Neto, C, and Alvarenga, MA (2014). Determination of equine fetal sex by Doppler ultrasonography of the gonads. Equine Veterinary Journal 46, 756–758.
| Determination of equine fetal sex by Doppler ultrasonography of the gonads.Crossref | GoogleScholarGoogle Scholar |
Ricketts, SW, Barrelet, A, and Whitwell, KE (2003). Equine abortion. Equine Veterinary Education 15, 18–21.
| Equine abortion.Crossref | GoogleScholarGoogle Scholar |
Rizzo, M, Ducheyne, KD, Deelen, C, Beitsma, M, Cristarella, S, Quartuccio, M, Stout, TAE, and de Ruijter-Villani, M (2019). Advanced mare age impairs the ability of in vitro-matured oocytes to correctly align chromosomes on the metaphase plate. Equine Veterinary Journal 51, 252–257.
| Advanced mare age impairs the ability of in vitro-matured oocytes to correctly align chromosomes on the metaphase plate.Crossref | GoogleScholarGoogle Scholar |
Rizzo, M, du Preez, N, Ducheyne, KD, Deelen, C, Beitsma, MM, Stout, TAE, and de Ruijter-Villani, M (2020). The horse as a natural model to study reproductive aging-induced aneuploidy and weakened centromeric cohesion in oocytes. Aging (Albany NY) 12, 22220–22232.
| The horse as a natural model to study reproductive aging-induced aneuploidy and weakened centromeric cohesion in oocytes.Crossref | GoogleScholarGoogle Scholar |
Roach, JM, Foote, AK, Smith, KC, Verheyen, KL, and de Mestre, AM (2021). Incidence and causes of pregnancy loss after Day 70 of gestation in Thoroughbreds. Equine Veterinary Journal 53, 996–1003.
| Incidence and causes of pregnancy loss after Day 70 of gestation in Thoroughbreds.Crossref | GoogleScholarGoogle Scholar |
Robles, M, Dubois, C, Gautier, C, Dahirel, M, Guenon, I, Bouraima-Lelong, H, Viguié, C, Wimel, L, Couturier-Tarrade, A, and Chavatte-Palmer, P (2018). Maternal parity affects placental development, growth and metabolism of foals until 1 year and a half. Theriogenology 108, 321–330.
| Maternal parity affects placental development, growth and metabolism of foals until 1 year and a half.Crossref | GoogleScholarGoogle Scholar |
Robles, M, Loux, S, de Mestre, AM, and Chavatte-Palmer, P (2022). Environmental constraints and pathologies that modulate equine placental genes and development. Reproduction 163, R25–R38.
| Environmental constraints and pathologies that modulate equine placental genes and development.Crossref | GoogleScholarGoogle Scholar |
Rodrigues, MN, Carvalho, RC, Franciolli, ALR, Rodrigues, RF, Rigoglio, NN, Jacob, JCF, Gastal, EL, and Miglino, MA (2014). Prenatal development of the digestive system in the horse. The Anatomical Record 297, 1218–1227.
| Prenatal development of the digestive system in the horse.Crossref | GoogleScholarGoogle Scholar |
Rose, BV, Cabrera-Sharp, V, Firth, MJ, Barrelet, FE, Bate, S, Cameron, IJ, Crabtree, JR, Crowhurst, J, McGladdery, AJ, Neal, H, Pynn, J, Pynn, OD, Smith, C, Wise, Z, Verheyen, KLP, Wathes, DC, and de Mestre, AM (2016). A method for isolating and culturing placental cells from failed early equine pregnancies. Placenta 38, 107–111.
| A method for isolating and culturing placental cells from failed early equine pregnancies.Crossref | GoogleScholarGoogle Scholar |
Rose, BV, Firth, M, Morris, B, Roach, JM, Wathes, DC, Verheyen, KLP, and de Mestre, AM (2018). Descriptive study of current therapeutic practices, clinical reproductive findings and incidence of pregnancy loss in intensively managed Thoroughbred mares. Animal Reproduction Science 188, 74–84.
| Descriptive study of current therapeutic practices, clinical reproductive findings and incidence of pregnancy loss in intensively managed Thoroughbred mares.Crossref | GoogleScholarGoogle Scholar |
Ruiz, AJ, Castaneda, C, Raudsepp, T, and Tibary, A (2019). Azoospermia and Y chromosome–autosome translocation in a Friesian stallion. Journal of Equine Veterinary Science 82, 102781.
| Azoospermia and Y chromosome–autosome translocation in a Friesian stallion.Crossref | GoogleScholarGoogle Scholar |
Schmutz, SM, Moker, JS, Clark, EG, and Orr, JP (1996). Chromosomal aneuploidy associated with spontaneous abortions and neonatal losses in cattle. Journal of Veterinary Diagnostic Investigation 8, 91–95.
| Chromosomal aneuploidy associated with spontaneous abortions and neonatal losses in cattle.Crossref | GoogleScholarGoogle Scholar |
Sharma, S, Dhaliwal, GS, and Dadarwal, D (2010). Reproductive efficiency of Thoroughbred mares under Indian subtropical conditions: a retrospective survey over 7 years. Animal Reproduction Science 117, 241–248.
| Reproductive efficiency of Thoroughbred mares under Indian subtropical conditions: a retrospective survey over 7 years.Crossref | GoogleScholarGoogle Scholar |
Shilton, CA, Kahler, A, Davis, BW, Crabtree, JR, Crowhurst, J, McGladdery, AJ, Wathes, DC, Raudsepp, T, and de Mestre, AM (2020). Whole genome analysis reveals aneuploidies in early pregnancy loss in the horse. Scientific Reports 10, 13314.
| Whole genome analysis reveals aneuploidies in early pregnancy loss in the horse.Crossref | GoogleScholarGoogle Scholar |
Simpson, DJ, Greenwood, RE, Ricketts, SW, Rossdale, PD, Sanderson, M, and Allen, WR (1982). Use of ultrasound echography for early diagnosis of single and twin pregnancy in the mare. Journal of Reproduction and Fertility. Supplement 32, 431–439.
Sipma, KD, Cornillie, P, Saulez, MN, Stout, TAE, Voorhout, G, and Back, W (2013). Phenotypic characteristics of hydrocephalus in stillborn Friesian foals. Veterinary Pathology 50, 1037–1042.
| Phenotypic characteristics of hydrocephalus in stillborn Friesian foals.Crossref | GoogleScholarGoogle Scholar |
Skuse D, Printzlau F, Wolstencroft J (2018) Sex chromosome aneuploidies. In ‘Handbook of clinical neurology. Vol. 147’. (Eds DH Geschwind, HL Paulson, C Klein) pp. 355–376. (Elsevier)
Smieszek, A, Marcinkowska, K, Pielok, A, Sikora, M, Valihrach, L, Carnevale, E, and Marycz, K (2022). Obesity affects the proliferative potential of equine endometrial progenitor cells and modulates their molecular phenotype associated with mitochondrial metabolism. Cells 11, 1437.
| Obesity affects the proliferative potential of equine endometrial progenitor cells and modulates their molecular phenotype associated with mitochondrial metabolism.Crossref | GoogleScholarGoogle Scholar |
Stanton, MB, Steiner, JV, and Pugh, DG (2004). Endometrial cysts in the mare. Journal of Equine Veterinary Science 24, 14–19.
| Endometrial cysts in the mare.Crossref | GoogleScholarGoogle Scholar |
Stout, TA, and Allen, WR (2002). Prostaglandin E(2) and F(2 alpha) production by equine conceptuses and concentrations in conceptus fluids and uterine flushings recovered from early pregnant and dioestrous mares. Reproduction 123, 261–268.
| Prostaglandin E(2) and F(2 alpha) production by equine conceptuses and concentrations in conceptus fluids and uterine flushings recovered from early pregnant and dioestrous mares.Crossref | GoogleScholarGoogle Scholar |
Stout, TAE, Meadows, S, and Allen, WR (2005). Stage-specific formation of the equine blastocyst capsule is instrumental to hatching and to embryonic survival in vivo. Animal Reproduction Science 87, 269–281.
| Stage-specific formation of the equine blastocyst capsule is instrumental to hatching and to embryonic survival in vivo.Crossref | GoogleScholarGoogle Scholar |
Su, M-T, Lin, S-H, and Chen, Y-C (2011). Genetic association studies of angiogenesis- and vasoconstriction-related genes in women with recurrent pregnancy loss: a systematic review and meta-analysis. Human Reproduction Update 17, 803–812.
| Genetic association studies of angiogenesis- and vasoconstriction-related genes in women with recurrent pregnancy loss: a systematic review and meta-analysis.Crossref | GoogleScholarGoogle Scholar |
Swegen, A (2021). Maternal recognition of pregnancy in the mare: does it exist and why do we care? Reproduction 161, R139–R155.
| Maternal recognition of pregnancy in the mare: does it exist and why do we care?Crossref | GoogleScholarGoogle Scholar |
Swegen, A, Grupen, CG, Gibb, Z, Baker, MA, de Ruijter-Villani, M, Smith, ND, Stout, TAE, and Aitken, RJ (2017). From peptide masses to pregnancy maintenance: a comprehensive proteomic analysis of the early equine embryo secretome, blastocoel fluid, and capsule. Proteomics 17, 1600433.
| From peptide masses to pregnancy maintenance: a comprehensive proteomic analysis of the early equine embryo secretome, blastocoel fluid, and capsule.Crossref | GoogleScholarGoogle Scholar |
Todd, ET, Thomson, PC, Hamilton, NA, Ang, RA, Lindgren, G, Viklund, Å, Eriksson, S, Mikko, S, Strand, E, and Velie, BD (2020). A genome-wide scan for candidate lethal variants in Thoroughbred horses. Scientific Reports 10, 13153.
| A genome-wide scan for candidate lethal variants in Thoroughbred horses.Crossref | GoogleScholarGoogle Scholar |
Tonekaboni, FR, Narenjisani, R, Staji, H, and Ahmadi-Hamedani, M (2020). Comparison of cell-free fetal DNA plasma content used to sex determination between three trimesters of pregnancy in Torkaman pregnant mare. Journal of Equine Veterinary Science 95, 103273.
| Comparison of cell-free fetal DNA plasma content used to sex determination between three trimesters of pregnancy in Torkaman pregnant mare.Crossref | GoogleScholarGoogle Scholar |
Torres, EM, Williams, BR, and Amon, A (2008). Aneuploidy: cells losing their balance. Genetics 179, 737–746.
| Aneuploidy: cells losing their balance.Crossref | GoogleScholarGoogle Scholar |
Turner, RM (2019). Declining testicular function in the aging stallion: management options and future therapies. Animal Reproduction Science 207, 171–179.
| Declining testicular function in the aging stallion: management options and future therapies.Crossref | GoogleScholarGoogle Scholar |
Ursell, PC, Byrne, JM, and Strobino, BA (1985). Significance of cardiac defects in the developing fetus: a study of spontaneous abortuses. Circulation 72, 1232–1236.
| Significance of cardiac defects in the developing fetus: a study of spontaneous abortuses.Crossref | GoogleScholarGoogle Scholar |
Villahoz, MD, Squires, EL, Voss, JL, and Shideler, RK (1985). Some observations on early embryonic death in mares. Theriogenology 23, 915–924.
| Some observations on early embryonic death in mares.Crossref | GoogleScholarGoogle Scholar |
Wang, Y, Li, Y, Chen, Y, Zhou, R, Sang, Z, Meng, L, Tan, J, Qiao, F, Bao, Q, Luo, D, Peng, C, Wang, YS, Luo, C, Hu, P, and Xu, Z (2020). Systematic analysis of copy-number variations associated with early pregnancy loss. Ultrasound in Obstetrics & Gynecology 55, 96–104.
| Systematic analysis of copy-number variations associated with early pregnancy loss.Crossref | GoogleScholarGoogle Scholar |
West, JD, and Everett, CA (2022). Preimplantation chromosomal mosaics, chimaeras and confined placental mosaicism. Reproduction and Fertility 3, R66–R90.
| Preimplantation chromosomal mosaics, chimaeras and confined placental mosaicism.Crossref | GoogleScholarGoogle Scholar |
Willmann, C, Schuler, G, Hoffmann, B, Parvizi, N, and Aurich, C (2011). Effects of age and altrenogest treatment on conceptus development and secretion of LH, progesterone and eCG in early-pregnant mares. Theriogenology 75, 421–428.
| Effects of age and altrenogest treatment on conceptus development and secretion of LH, progesterone and eCG in early-pregnant mares.Crossref | GoogleScholarGoogle Scholar |
Wilsher, S, and Allen, WR (2011). Factors influencing equine chorionic gonadotrophin production in the mare. Equine Veterinary Journal 43, 430–438.
| Factors influencing equine chorionic gonadotrophin production in the mare.Crossref | GoogleScholarGoogle Scholar |
Wilsher, S, Rigali, F, Kovacsy, S, and Allen, WRT (2020). Puncture of the equine embryonic capsule and its repair in vivo and in vitro. Journal of Equine Veterinary Science 93, 103194.
| Puncture of the equine embryonic capsule and its repair in vivo and in vitro.Crossref | GoogleScholarGoogle Scholar |
Yang, Y-J, and Cho, G-J (2007). Factors concerning early embryonic death in Thoroughbred mares in South Korea. Journal of Veterinary Medical Science 69, 787–792.
| Factors concerning early embryonic death in Thoroughbred mares in South Korea.Crossref | GoogleScholarGoogle Scholar |
Zarrei, M, MacDonald, JR, Merico, D, and Scherer, SW (2015). A copy number variation map of the human genome. Nature Reviews Genetics 16, 172–183.
| A copy number variation map of the human genome.Crossref | GoogleScholarGoogle Scholar |
Zhang T, Bellamy J, Buwn L, Weber A, Ruth G (1992) Autosomal trisomy in a foal with contracted tendon syndrome. In ‘Proceedings of the 10th European Colloqium on Cytogenetics of Domestic Animals, Utrecht, The Netherlands’. pp. 18–21.