Article

Haplotype-based noninvasive prenatal diagnoses of 36 fetuses with spinal muscular atrophy in the real clinical environment at early gestation age

2023-07-19

Abstract excerpt

<h4>Objective: </h4> To explore the feasibility of noninvasive prenatal diagnoses (NIPD) based on haplotype construction and Bayes factor (BF) for spinal muscular atrophy (SMA) in clinical application. Methods 36 singleton families with pregnancy risk of SMA were recruited and all the recruited members were conducted MLPA to validate the copy number of exons 7 and 8 in SMN1 and SMN2 genes. The designed capture pa...

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Literature Corpus work: faf4a1d9-5385-59ff-b1a2-9fe7f723a324
DOI: 10.21203/rs.3.rs-3123735/v1

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