Prenatal exclusion of late infantile metachromatic leucodystrophy in a late-presenting pregnancy by assay of fetal leucocytes.
Metachromatic leucodystrophy was excluded in a fetus at risk, by assay of fetal blood collected at fetoscopy. Isolated fetal leucocytes were shown to have activities of arylsulphatase A and cerebroside sulphatase in the heterozygous range. The prediction was confirmed in the newborn.
D002553:Cerebroside-Sulfatase / Q000097:blood; D002803:Chondro-4-Sulfatase / Q000097:blood; D004796:Clinical Enzyme Tests; D005260:Female; D005312:Fetal Blood / Q000201:enzymology; D006801:Humans; D007231:Infant, Newborn; D007962:Leukocytes / Q000201:enzymology*; D007966:Leukodystrophy, Metachromatic / Q000175:diagnosis*; D008297:Male; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D011296:Prenatal Diagnosis / Q000379:methods*
D002553:Cerebroside-Sulfatase; D002803:Chondro-4-Sulfatase