Journals / Turkish Journal of Family Medicine and Primary Care / 2016 / Cilt: 10 - Sayı: 2

A Rare Case of In Vitro Fertilization: Patau Syndrome Associated with Bilateral Anophthalmia

Nadir Bir İn Vitro Fertilizasyon Olgusu: Bilateral Anoftalminin Eşlik Ettiği Patau Sendromu

Pages
121–123
DOI
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Abstract

Background: Although the practice of preimplantation genetic diagnosis has seen major advances in both obstetrical andreproductive sciences in recent years, the methods used still have technical limitations that include the possibility of a falseresult.Method: A case of neonate born from twin pregnancy, which is a product of in vitro fertilization, was reviewed.Result: The one of twin babies was diagnosed with Patau syndrome and bilateral anophthalmia, while the other was normal.Conclusion: Because of high risk of aneuploid embryos in women undergoing in vitro fertilization, genetic counselling mustbe provided to ensure that couples fully understand the risk of early pregnancy loss and having an affected child.

Özet

Background: Although the practice of preimplantation genetic diagnosis has seen major advances in both obstetrical and reproductive sciences in recent years, the methods used still have technical limitations that include the possibility of a false result.Method: A case of neonate born from twin pregnancy, which is a product of in vitro fertilization, was reviewed.Result: The one of twin babies was diagnosed with Patau syndrome and bilateral anophthalmia, while the other was normal. Conclusion: Because of high risk of aneuploid embryos in women undergoing in vitro fertilization, genetic counselling must be provided to ensure that couples fully understand the risk of early pregnancy loss and having an affected child.

Keywords: Transfer öncesi genetik tanı, anöploidi, Patau sendromu, anoftalmi