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First-trimester biochemical and molecular diagnoses using chorionic villi: high accuracy in the U.S. collaborative
R J Desnick1, J L Schuette, M S Golbus
1Mount Sinai School of Medicine, New York, NY 10029.
Prenatal Diagnosis
|May 1, 1992
Summary
Chorionic villus sampling (CVS) enables accurate prenatal diagnosis of metabolic disorders and genetic conditions using biochemical and molecular methods. Studies show high accuracy with no maternal contamination, though some complex cases require further testing.
Area of Science:
- Prenatal Diagnosis
- Medical Genetics
- Biochemistry
Background:
- Chorionic villus sampling (CVS) is a prenatal diagnostic technique.
- Assessing the accuracy of CVS for biochemical and molecular diagnoses is crucial.
Purpose of the Study:
- To evaluate the accuracy of biochemical and molecular prenatal diagnoses using chorionic villi.
- To compare diagnostic accuracy across seven participating centers.
Main Methods:
- Biochemical analysis for 35 metabolic disorders in 283 fetuses.
- Recombinant DNA techniques for 16 genetic disorders in 318 fetuses.
- Utilized direct and cultured chorionic villi for sample analysis.
Main Results:
- Biochemical diagnoses showed no errors; however, some enzyme results were inconclusive, requiring amniocyte studies.
- Molecular diagnoses for specific mutations (e.g., sickle cell disease) were accurate.
- Diagnoses using linked polymorphic markers were occasionally inconclusive; no maternal contamination was reported.
Conclusions:
- Chorionic villus sampling provides highly accurate and rapid prenatal diagnoses for a wide range of metabolic and genetic disorders.
- Both biochemical and mutation-specific molecular testing using CVS are reliable diagnostic tools.
- Further studies may be needed for complex genetic conditions requiring linked marker analysis.