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Antenatal genetic screening for congenital nephrosis
J Kallinen1, S Heinonen, M Ryynänen
1Department of Obstetrics and Gynecology, Kuopio University Hospital, Finland.
Prenatal Diagnosis
|March 10, 2001
Summary
Genetic carrier screening for Finnish congenital nephrosis (CNF) is effective and well-accepted. This method offers clear diagnoses for fetal CNF, proving genetic testing
Area of Science:
- Medical Genetics
- Prenatal Diagnostics
- Pediatric Nephrology
Background:
- Congenital nephrosis (CNF), a recessive disorder, causes nephrotic syndrome from birth.
- Finnish CNF is caused by specific mutations in the nephrin (NPHS 1) gene.
- Antenatal screening is crucial for early detection and management of genetic disorders.
Purpose of the Study:
- To evaluate the applicability of genetic antenatal screening for Finnish congenital nephrosis (CNF).
- To assess the uptake and effectiveness of carrier screening for CNF mutations.
- To compare genetic testing with traditional alpha-fetoprotein (AFP) screening methods.
Main Methods:
- Carrier screening offered to 1303 pregnant women at first trimester nuchal fold translucency measurement.
- Testing for two common NPHS 1 gene mutations using PCR-based methods.
- Partner testing and invasive prenatal diagnosis for identified carrier couples.
Main Results:
- Uptake rate for carrier screening was 91.0% (1183 participants).
- A carrier frequency of 1 in 31 was identified among the screened population.
- Two pregnancies involved carrier couples, leading to prenatal diagnoses of one carrier and one affected fetus.
Conclusions:
- Genetic carrier screening is an effective and well-accepted method for antenatal screening of fetal CNF.
- Direct mutation analysis provides clear-cut diagnoses with less invasive procedures than serum AFP screening.
- Genetic testing is suitable for antenatal screening of single-gene disorders like CNF.