Noninvasive twin genotyping for recessive monogenic disorders by relative haplotype dosage.
Lingrong KongZhenhua ZhaoXinyu FuHuanyun LiJingqi ZhuDi WuXiangdong KongLu-Ming SunPublished in: Prenatal diagnosis (2024)
This study is the first to perform NIPT for single-gene disorders in twin pregnancies and preliminarily confirm its clinical feasibility. Acknowledging the twins' genotypes in the first trimester is valuable as it empowers obstetric care providers and parents to have adequate time for pregnancy management and decision-making.
Keyphrases
- decision making
- preterm birth
- genome wide
- healthcare
- gestational age
- pregnancy outcomes
- palliative care
- high throughput
- copy number
- quality improvement
- dna methylation
- gene expression
- autism spectrum disorder
- chronic pain
- transcription factor
- single cell
- genetic diversity
- affordable care act
- duchenne muscular dystrophy