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Single Nucleotide Polymorphism array analysis for fetuses from balanced translocation carriers at the second

Xiaoqing Wu1,2,3,4, Shengrong Du1,2, Bin Liang1,2

  • 1Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fuzhou, Fujian, China.

Heliyon
|November 5, 2024
PubMed
Summary

Couples with a female balanced translocation carrier have higher miscarriage rates than male carriers. Prenatal diagnosis using SNP array analysis found no increased risk of significant fetal copy number variations due to balanced translocations.

Keywords:
Balanced translocationConventional karyotypingCopy number variantsSingle nucleotide polymorphism arrayTranslocation breakpoints

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Area of Science:

  • Reproductive Medicine and Genetics
  • Prenatal Diagnosis
  • Human Genetics

Background:

  • Balanced translocations in couples pose risks for reproductive outcomes.
  • Prenatal diagnosis is essential for managing pregnancies with translocation carriers.
  • Assisted reproductive technology with preimplantation genetic diagnosis (PGD) is an option for these couples.

Purpose of the Study:

  • To evaluate pregnancy outcomes in couples with a balanced translocation carrier.
  • To compare risks between natural conception and PGD-assisted pregnancies.
  • To assess the utility of SNP array analysis in detecting clinically significant abnormalities.

Main Methods:

  • Retrospective review of 195 pregnancies from 189 couples with balanced translocations.
  • Comparison between natural conception (126 pregnancies) and PGD-assisted conception (69 pregnancies).
  • Application of single nucleotide polymorphism (SNP) array analysis and conventional karyotyping for genetic assessment.

Main Results:

  • Female carriers experienced significantly higher rates of recurrent miscarriage (30.2%) compared to male carriers (14.0%) in natural conceptions (p < 0.05).
  • This gender disparity in miscarriage rates was also observed in the PGD group (p < 0.05).
  • SNP array analysis identified additional copy number variations (CNVs), but provided insufficient evidence that balanced translocations increase the fetal risk of clinically significant CNVs.

Conclusions:

  • Recurrent miscarriage is more frequent when the female partner is the balanced translocation carrier.
  • Conventional SNP array analysis in prenatal diagnosis does not strongly support an increased fetal risk of clinically significant CNVs due to balanced translocations.
  • Findings emphasize the importance of considering carrier sex in risk assessment for couples with balanced translocations.