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Genetic abnormalities and pregnancy loss.

Nathan R Blue1, Jessica M Page2, Robert M Silver1

  • 1University of Utah Health, Department of Obstetrics and Gynecology, Maternal-Fetal Medicine, Salt Lake City, UT, United States.

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|January 15, 2019
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Summary

Genetic abnormalities in conceptus or parents can cause recurrent pregnancy loss (RPL). While chromosomal microarray and karyotyping help identify causes, management implications for identified genetic issues remain unclear.

Keywords:
aneuploidygenetickaryotypemicroarraymiscarriagepreimplantation genetic testingrecurrent pregnancy loss

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Area of Science:

  • Reproductive Genetics
  • Human Genetics
  • Genomic Medicine

Background:

  • Genetic abnormalities in the conceptus or parents are significant risk factors for both sporadic and recurrent pregnancy loss (RPL).
  • Conceptus abnormalities include aneuploidy, copy number variations, skewed X inactivation, and single gene disorders.
  • Balanced chromosomal translocations in parents represent a well-studied genetic cause of RPL.

Purpose of the Study:

  • To review the genetic causes of recurrent pregnancy loss (RPL).
  • To discuss diagnostic methods for evaluating genetic abnormalities in pregnancy loss.
  • To explore potential management strategies for identified genetic causes of RPL.

Main Methods:

  • Evaluation of genetic abnormalities in pregnancy loss cases.
  • Comparison of chromosomal microarray and karyotyping for detecting genetic alterations.
  • Review of preimplantation genetic testing as a management strategy.

Main Results:

  • Chromosomal microarray offers higher interpretable results than karyotype in pregnancy loss due to reduced cell culture failure.
  • Karyotype remains the standard for parental genetic evaluation, as microarray may miss balanced translocations.
  • Preimplantation genetic testing is proposed for optimizing live birth rates in cases with identified genetic abnormalities, but lacks supporting evidence.

Conclusions:

  • Various genetic causes for recurrent pregnancy loss are recognized.
  • The clinical implications and management strategies for identified genetic abnormalities in RPL remain largely unclear.
  • Further research is needed to establish evidence-based management protocols.