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Grand Rounds

Preconception Expanded Carrier Screening of Consanguineous Couples using a 4,813 Gene Panel

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BACKGROUND AND PURPOSE:

  • Preconception and prenatal expanded carrier testing panels are available
  • Consanguinous couples
    • 4 to 6% risk for having a child with a significant birth defect (double baseline rate of 2 to 3%)
    • Increased risk for autosomal recessive disorders
    • Often the first time couples find out about their risk is after the birth of an affected child
  • Kirk et al (Genetics in Medicine 2019) screened consanguineous couples at preconception with a “clinical exome” panel as a proof of concept that broad, expanded carrier testing may be of benefit

METHODS:

  • Participants
    • Consanguineous couples
    • At least 2nd cousins and were planning further children
  • Genetic screening
    • Done using a 4,813 gene panel associated with human disease
    • Approach was that of ‘couples’ testing, rather than sequential
    • Variants (for recessive) were only assessed if
      • Both partners were carriers for the same variant or
      • Each partner was a carrier for a different variant but in same gene
  • X-linked disorders were included in addition to autosomal recessive
    • X-linked included due to impact on offspring, not because of increased risk in consanguineous couples

RESULTS:

  • 15 couples were sequenced
  • 4 couples were found to be at risk of autosomal recessive disorders
    • One couple: Poretti-Boltshauser syndrome (and already had a child with this disorder, undiagnosed until this study)
    • One couple: β-globin variant – previously known
    • Two couples: New information for the family
      • Gene C5orf42: Associated with Joubert syndrome and orofaciodigital syndrome
      • Gene GYS2: Associated with glycogen synthase deficiency
  • There was one known variant that was not detected but could not be picked up using the technology used in this study (single exon deletion)

CONCLUSION:

  • The authors claim
    • Only ¼ variants would have been detected with current available panels (β-globin variant)
    • Broad preconception screening would detect more at-risk couples than current targeted approaches
    • Preconception screening for recessive and X-linked disorders in consanguineous couples is of benefit
    • By screening and combining data from both partners, rather than sequential testing, the number of variants that needed to be assessed was greatly reduced

Learn more – Primary Sources:

Beyond the panel: preconception screening in consanguineous couples using the TruSight One “clinical exome”

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Related ObG Topics:

ISPD, SMFM and PQF Release a Joint Position Statement on Fetal Genome-Wide Sequencing
The Exome and Exome Sequencing: Prenatal Testing Recommendations
Can Whole Exome Sequencing Explain Prenatal Loss With Insufficient Fetal DNA?
ACOG Opinion on Expanded Carrier Screening
Can Whole-Exome Sequencing Help Diagnose Otherwise Unexplained Fetal Structural Anomalies?

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