Article
Noninvasive Fetal Genotyping by Droplet Digital PCR to Identify Maternally Inherited Monogenic Diabetes Variants.
Clinical chemistry - 1 Jul 2020
Caswell Richard C, Snowsill Tristan, Houghton Jayne A L, Chakera Ali J, Shepherd Maggie H, Laver Thomas W, Knight Bridget A, Wright David, Hattersley Andrew T, Ellard Sian
Abstract excerpt
BACKGROUND: Babies of women with heterozygous pathogenic glucokinase (GCK) variants causing mild fasting hyperglycemia are at risk of macrosomia if they do not inherit the variant. Conversely, babies who inherit a pathogenic hepatocyte nuclear factor 4α (HNF4A) diabetes variant are at increased risk of high birth weight. Noninvasive fetal genotyping for maternal pathogenic variants would inform pregnancy...
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