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

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.

[1]  S. Kahraman,et al.  Recent advances in preimplantation genetic diagnosis , 2015 .

[2]  J. Polli,et al.  Clinical features and prognosis of a sample of patients with trisomy 13 (Patau syndrome) from Brazil , 2013, American journal of medical genetics. Part A.

[3]  R. Coco Reprogenetics: Preimplantational genetics diagnosis , 2013, Genetics and molecular biology.

[4]  C. Stoll,et al.  Associated malformations among infants with anophthalmia and microphthalmia. , 2012, Birth defects research. Part A, Clinical and molecular teratology.

[5]  J. Simpson Causes of fetal wastage. , 2007, Clinical obstetrics and gynecology.

[6]  Amit S Verma,et al.  Anophthalmia and microphthalmia , 2007, Orphanet journal of rare diseases.