Noninvasive prenatal testing strategy detects maple syrup urine disease in a fetus: combination of genetic sequencing, maternal blood screening identifies single-gene mutation in vitro.
D001483:Base Sequence; D005333:Fetus; D006801:Humans; D008375:Maple Syrup Urine Disease / Q000097:blood / Q000175:diagnosis* / Q000235:genetics*; D062145:Maternal Serum Screening Tests / Q000379:methods*; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics; D011296:Prenatal Diagnosis / Q000379:methods*; D060888:Real-Time Polymerase Chain Reaction; D017422:Sequence Analysis, DNA