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

Öz

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.

Anahtar Kelimeler

• Transfer öncesi genetik tanı, anöploidi, Patau sendromu, anoftalmi

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

Öz

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. 

Anahtar Kelimeler

• Preimplantation genetic diagnosis,aneuploidy,Patau syndrome,anophthalmia

Kaynakça

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2. Verma AS, Fitzpatrick DR. Anophthalmia and microphthalmia. Orphanet J Rare Dis 2007;2:47. doi:10.1186/1750-1172-2-47
3. Stoll C, Dott B, Alembik Y, Roth MP. Associated malformations among infants with anophthalmia and microphthalmia. Birth Defects Res A Clin Mol Teratol 2012;94(3):147-52. doi:10.1002/bdra.22877
4. Petry P, Polli JB, Mattos VF, Rosa RC, Zen PR, Graziadio C, et al. Clinical features and prognosis of a sample of patients with trisomy 13 (Patau syndrome) from Brazil. Am J Med Genet A 2013;161A:1278-83. doi:10.1002/ajmg.a.35863
5. Simpson JL. Causes of fetal wastage. Clin Obstet Gynecol 2007;50(1):10-30.
6. Coco R. Reprogenetics: Preimplantational genetics diagnosis. Genet Mol Biol 2014;37(1):271-84.