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Related Concept Videos

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FISH for Pre-implantation Genetic Diagnosis
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Routine detection of consanguinity through preimplantation genetic testing in human embryos.

Catherine Kratka1, Jia Xu1, Jennifer Eccles1

  • 1Genomic Prediction Inc., North Brunswick Township, New Jersey, USA.

Reproductive Biomedicine Online
|March 2, 2025
PubMed
Summary

Preimplantation genetic testing (PGT) can now routinely detect consanguinity in embryos by analyzing regions of homozygosity. This advancement improves PGT utility and identifies embryos at higher risk for recessive genetic disorders.

Keywords:
ConsanguinityPreimplantation embryosRegions of homozygositySingle-nucleotide polymorphism array

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Area of Science:

  • Reproductive Medicine
  • Human Genetics
  • Genomics

Background:

  • Consanguinity, defined as genetic relationship between parents, increases the risk of autosomal recessive disorders.
  • Preimplantation genetic testing (PGT) is an established method for screening embryos for genetic abnormalities before implantation.
  • Current PGT methods do not routinely assess parental consanguinity.

Purpose of the Study:

  • To evaluate the feasibility of a single-nucleotide polymorphism array-based PGT platform for routine consanguinity detection in preimplantation embryos.
  • To establish a genetic threshold for identifying consanguineous embryos based on regions of homozygosity (ROH).

Main Methods:

  • A validation set of 29 PGT cases (5 consanguineous, 24 non-consanguineous) was used to define a threshold for consanguinity detection based on ROH percentage.
  • PLINK software identified ROH > 5 Mb on autosomes.
  • The established threshold was applied to 6,380 clinical PGT cases (27,378 embryos) to determine consanguinity prevalence.

Main Results:

  • A criterion of two or more embryos with ROH percentages ≥ 0.5% effectively distinguished consanguineous from non-consanguineous cases.
  • The validation set correctly identified positive and negative control cases.
  • In the clinical cohort, 0.45% (29 out of 6,380) of cases were identified as consanguineous.

Conclusions:

  • A PGT platform utilizing ROH analysis can routinely screen for parental consanguinity in IVF-derived embryos.
  • Consanguinity detection is possible without prior knowledge of parental relationships.
  • This method enhances PGT utility by identifying embryos at increased risk for recessive diseases linked to consanguinity.