A Rare Case of In Vitro Fertilization: Patau Syndrome Associated with Bilateral Anophthalmia
Abstract
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
References
- Kahraman S, Beyazyürek Ç, Taç HA, Pirkevi C, Cetinkaya M, Gülüm N. Recent advances in preimplantation genetic diagnosis. Advances in Genomics and Genetics 2015:5;189–203. doi:10.2147/AGG.S53422
- Verma AS, Fitzpatrick DR. Anophthalmia and microphthalmia. Orphanet J Rare Dis 2007;2:47. doi:10.1186/1750-1172-2-47
- 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
- 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
- Simpson JL. Causes of fetal wastage. Clin Obstet Gynecol 2007;50(1):10-30.
- Coco R. Reprogenetics: Preimplantational genetics diagnosis. Genet Mol Biol 2014;37(1):271-84.
Details
Primary Language
English
Subjects
Internal Diseases
Journal Section
Research Article
Publication Date
June 14, 2016
Submission Date
June 5, 2016
Acceptance Date
-
Published in Issue
Year 2016 Volume: 10 Number: 2