Research Article

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

Volume: 10 Number: 2 June 14, 2016
  • Mehmet İpek
  • Uğur Değer
  • Yunus Çavuş
TR EN

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

  1. 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
  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.

Details

Primary Language

English

Subjects

​Internal Diseases

Journal Section

Research Article

Authors

Mehmet İpek This is me

Uğur Değer This is me

Yunus Çavuş This is me

Publication Date

June 14, 2016

Submission Date

June 5, 2016

Acceptance Date

-

Published in Issue

Year 2016 Volume: 10 Number: 2

APA
İpek, M., Değer, U., & Çavuş, Y. (2016). A Rare Case of In Vitro Fertilization: Patau Syndrome Associated with Bilateral Anophthalmia. Turkish Journal of Family Medicine and Primary Care, 10(2), 121-123. https://doi.org/10.5455/tjfmpc.214474
AMA
1.İpek M, Değer U, Çavuş Y. A Rare Case of In Vitro Fertilization: Patau Syndrome Associated with Bilateral Anophthalmia. TJFMPC. 2016;10(2):121-123. doi:10.5455/tjfmpc.214474
Chicago
İpek, Mehmet, Uğur Değer, and Yunus Çavuş. 2016. “A Rare Case of In Vitro Fertilization: Patau Syndrome Associated With Bilateral Anophthalmia”. Turkish Journal of Family Medicine and Primary Care 10 (2): 121-23. https://doi.org/10.5455/tjfmpc.214474.
EndNote
İpek M, Değer U, Çavuş Y (June 1, 2016) A Rare Case of In Vitro Fertilization: Patau Syndrome Associated with Bilateral Anophthalmia. Turkish Journal of Family Medicine and Primary Care 10 2 121–123.
IEEE
[1]M. İpek, U. Değer, and Y. Çavuş, “A Rare Case of In Vitro Fertilization: Patau Syndrome Associated with Bilateral Anophthalmia”, TJFMPC, vol. 10, no. 2, pp. 121–123, June 2016, doi: 10.5455/tjfmpc.214474.
ISNAD
İpek, Mehmet - Değer, Uğur - Çavuş, Yunus. “A Rare Case of In Vitro Fertilization: Patau Syndrome Associated With Bilateral Anophthalmia”. Turkish Journal of Family Medicine and Primary Care 10/2 (June 1, 2016): 121-123. https://doi.org/10.5455/tjfmpc.214474.
JAMA
1.İpek M, Değer U, Çavuş Y. A Rare Case of In Vitro Fertilization: Patau Syndrome Associated with Bilateral Anophthalmia. TJFMPC. 2016;10:121–123.
MLA
İpek, Mehmet, et al. “A Rare Case of In Vitro Fertilization: Patau Syndrome Associated With Bilateral Anophthalmia”. Turkish Journal of Family Medicine and Primary Care, vol. 10, no. 2, June 2016, pp. 121-3, doi:10.5455/tjfmpc.214474.
Vancouver
1.Mehmet İpek, Uğur Değer, Yunus Çavuş. A Rare Case of In Vitro Fertilization: Patau Syndrome Associated with Bilateral Anophthalmia. TJFMPC. 2016 Jun. 1;10(2):121-3. doi:10.5455/tjfmpc.214474

English or Turkish manuscripts from authors with new knowledge to contribute to understanding and improving health and primary care are welcome. 


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