Sequencing Cell-free Fetal DNA in Pregnant Women With GCK-MODY.

ABSTRACT:

Context

Individuals with monogenic diabetes due to inactivating glucokinase (GCK) variants typically do not require treatment, except potentially during pregnancy. In pregnancy, fetal GCK genotype determines whether treatment is indicated, but noninvasive methods are not clinically available.

Objective

This work aims to develop a method to determine fetal GCK genotype noninvasively using maternal cell-free fetal DNA.

Methods

This was a proof-of-concept study involving 3 pregnant women with a causal GCK variant that used information from 1) massive parallel sequencing of maternal plasma cell-free DNA, 2) direct haplotype sequences of maternal genomic DNA, and 3) the paternal genotypes to estimate relative haplotype dosage of the pathogenic variant-linked haplotype. Sta

SUBMITTER: Kwak SH 

PROVIDER: S-EPMC8660061 | biostudies-literature | 2021 Aug

REPOSITORIES: biostudies-literature