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Fetal abnormality (Goldenhar syndrome) occurring in one of triplet infants derived from in vitro fertilization with possible monzygotic twinning

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Abstract

Of 36 infants delivered following conception by in vitro fertilization (IVF), I case of significant fetal abnormality has been detected. The infant is one of male triplets exposed to medroxyprogesterone acetate (MPA) in utero and demonstrates abnormalities of the ear, vertebral column, and ribs which fit clearly into the oculoauriculovertebral syndrome described by Goldenhar and which have been reported in monozygotic twins with discordance. Marker studies including elght blood groups, HLA haplotype assignments, and banding studies of the chromosmes indicate that the infant and one of his brothers may well be identical (P<0.001 for dizygosity) except for the Fy(a) antigen. It is deduced that the fetal abnormality is not causally related either to MPA exposure or to the techniques applied during fertilization and early embryo culture, and furthermore, if the infant is the monozygotic twin of one of his brothers, the two phenomena are unrelated, as each was likely to have occurred at different stages of embryonic development.

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References

  1. Seppälä M: The world collaborative report on in vitro fertilization and embryo replacement: Current state of the art in January 1984. In Proceedings of the III World Congress of In-Vitro Fertilization and Embryo Transfer, Helsinki, Finland, May 1984, Ann NY Acad Sci (in press)

  2. Yovich JL, Stanger JD, Tuvik AI, Yovich JM: In vitro fertilization in Western Australia: A viable service program. Med J Aust 1984;140:645–649

    Google Scholar 

  3. Yovich JL, Stanger JD, Yovich JM, Tuvik AI: Hormonal profiles in the follicular phase, luteal phase and first trimester of pregnancy. Br J Obstet Gynecol (in press)

  4. Yovich J, Puzey A, De Atta R, Roberts R, Reid S, Grauaug A: In vitro fertilization pregnancy with early progestagen support. Lancet 1982;2:378–379

    Google Scholar 

  5. Yovich JL, Stanger JD, Willcox DL, Michael CA: Medroxyprogesterone in in-vitro fertilization. Lancet 1983;2:711

    Google Scholar 

  6. Goldenhar M: Associations malformatives de l'oeil et de l'oreille, en particulier le syndrome dermodie epibulbaireappendices auriculaires-fistula auris congenita et ses relations avec la dysostose mandibulofacile. J Genet Hum 1952;1:243–282

    Google Scholar 

  7. Mellor DH, Richardson JE, Douglas DM: Goldenhar's syndrome. Oculoauriculo-vertebral dysplasia. Arch Dis Child 1973;48:357–541

    Google Scholar 

  8. Smith DW: Facio-auriculo-vertebral spectrum.In Recognizable Patterns of Human Malformation, 3rd ed, M Markowitz (ed). Philadelphia, WB Saunders, 1982, pp 497–500

    Google Scholar 

  9. Scheres JMJC: CT banding of human chromosomes. Hum Genet 1976;31:293–307

    Google Scholar 

  10. Smith SM, Penrose LS: Monozygotic and dizygotic twin diagnosis. Ann Hum Genet 1955;19:273–289

    Google Scholar 

  11. Chang MC: Fertilization of rabbit ova in vitro. Nature 1959;184:466–467

    Google Scholar 

  12. Whittingham DG: Fertilization of mouse eggs in vitro. Nature 1968;220:592–593

    Google Scholar 

  13. McCusick MD: Mendelian Inheritance in Man, 6th ed, Baltimore, John Hopkins University Press, 1983

    Google Scholar 

  14. Summitt R: Familial Goldenhar syndrome. Birth Defects 1969;5:106–109

    Google Scholar 

  15. Setzer ES, Ruiz-Castaneda N, Severn C, Ryden S, Frias JL: Etiologic heterogeneity in the oculoauriculovertebral syndrome. J Pediat 1981;98:88–90

    Google Scholar 

  16. Race RR, Sanger R: Blood Groups in Man, 6th ed, Oxford, Blackwell Scientific, 1975

    Google Scholar 

  17. Cutbush M, Mollison P: The Duffy blood group, Heredity 1950;4:383–389

    Google Scholar 

  18. Yovich JL, Stanger JD, Grauaug A, Barter R, Lunay G, Dawkins RL, Mulcahy MT: Monozygotic twins from in vitro fertilization. Fertil Steril 1984;41:833–837

    Google Scholar 

  19. Yovich JL, Stanger JD, YovicH JM, Tuvik AI: The quality of embryos from in-vitro fertilization. Lancet 1974;1:457

    Google Scholar 

  20. Poswillo D: Otomandibular deformity: Pathogenesis as a guide to reconstruction. J Maxillofac Surg 1972;2:64–72

    Google Scholar 

  21. Gorlin RJ, Pindborg JJ: Syndromes of the Head and Neck. New York, McGraw-Hill, 1964

    Google Scholar 

  22. Yovich JL, Stanger JD, Yovich JM, Tuvik AI: Assessment and hormonal treatment of the luteal phase of in vitro fertilization cycles. Aust NZ J Obstet Gynecol 1984;24:125–130

    Google Scholar 

  23. Burstein R, Wasserman HC: The effect of Provera in the fetus. J Am Col Obstet Gynecol 1964;23:931–934

    Google Scholar 

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Yovich, J.L., Stanger, J.D., Grauaug, A.A. et al. Fetal abnormality (Goldenhar syndrome) occurring in one of triplet infants derived from in vitro fertilization with possible monzygotic twinning. J Assist Reprod Genet 2, 27–32 (1985). https://doi.org/10.1007/BF01130829

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  • DOI: https://doi.org/10.1007/BF01130829

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