Prenatal diagnosis of a red-cell enzymopathy: triose phosphate isomerase deficiency.
A child with triose phosphate isomerase deficiency was born to nonconsanguineous parents, and died at 13 months of age. The parents were both found to be heterozygous for this enzyme deficiency. At a subsequent pregnancy, analysis of fetal red blood cells obtained by cordocentesis at 19 weeks' gestation enabled prenatal diagnosis of the heterozygous state. This technique may allow diagnosis of other red-cell enzymopathies during the second trimester.
Bellingham
A J
AJ
Department of Haematological Medicine, King's College School of Medicine and Dentistry, London.
Lestas
A N
AN
Williams
L H
LH
Nicolaides
K H
KH
D002238:Carbohydrate Epimerases / Q000172:deficiency*; D002881:Chromosomes, Human, Pair 12; D004099:Dihydroxyacetone Phosphate / Q000097:blood; D004912:Erythrocytes / Q000201:enzymology*; D005260:Female; D005315:Fetal Diseases / Q000097:blood / Q000201:enzymology* / Q000235:genetics; D006580:Genetic Carrier Screening; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D010641:Phenotype; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D011296:Prenatal Diagnosis; D014305:Triose-Phosphate Isomerase / Q000172:deficiency*
D004099:Dihydroxyacetone Phosphate; D002238:Carbohydrate Epimerases; D014305:Triose-Phosphate Isomerase