Basic concepts in biochemical antenatal diagnosis.
The biochemical test for each inherited metabolic disorder is unique. Each is complex and requires considerable experience for proper interpretation. All have inherent pitfalls that can be exaggerated by improper test procedures or inadequate tissue samples. An accurate prenatal diagnosis depends on having a reliable assay, competently performed, using a well-prepared sample.
Grebner
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Division of Medical Genetics, Thomas Jefferson University, Philadelphia, Pennsylvania.
D000653:Amniotic Fluid / Q000166:cytology; D002824:Chorionic Villi / Q000473:pathology; D004247:DNA / Q000032:analysis*; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis* / Q000201:enzymology / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D015971:Gene Expression Regulation, Enzymologic; D005817:Genetic Counseling; D006801:Humans; D008661:Metabolism, Inborn Errors / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods; D013048:Specimen Handling
D004247:DNA