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Contribution of genetic variants to congenital heart defects in both singleton and twin fetuses: a Chinese cohort study.

Shaobin LinShanshan ShiJian LuZhiming HeDanlun LiLinhuan HuangXuan HuangYi ZhouYanmin Luo
Published in: Molecular cytogenetics (2024)
Our cohort study provides a deep profile of the contribution of genetic variants to CHDs in both singleton and twin fetuses; NCA and P/LP CNV contribute to 9.1% and 8.5% of CHD in fetuses, respectively. We confirmed the 16p11.2 deletion as a CHD-associated hotspot CNV, second only to the 22q11.21 deletion in frequency. Most 16p11.2 deletions detected were de novo. Additionally, P/LP SV was identified in 12.9% (8/62) of fetuses without NCA or P/LP CNV.
Keyphrases
  • gestational age
  • birth weight
  • preterm birth
  • body mass index