Noninvasive prenatal diagnosis based on cell-free DNA for tuberous sclerosis: A pilot study.

ABSTRACT:

Background

Noninvasive prenatal diagnosis (NIPD) based on cell-free DNA (cfDNA) has been introduced into the clinical application for some monogenic disorders but not for tuberous sclerosis (TSC) yet, which is an autosomal dominant disease caused by various variations in TSC1 or TSC2 gene. We aimed to explore the feasibility of NIPD on TSC.

Methods

We recruited singleton pregnancies at risk of TSC from 14 families with a proband child. Definitive NIPD for TSC was performed using targeted next-generation sequencing of cfDNA in parallel with maternal white blood cell DNA (wbcDNA). The NIPD results were validated by amniocentesis or postnatal gene testing and follow-up of the born children.

Results

Missense mutations, nonsense mutations, frameshift mutations, and splice-

SUBMITTER: Yang XY 

PROVIDER: S-EPMC9266619 | biostudies-literature | 2022 Jul

REPOSITORIES: biostudies-literature