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Changes in the utilization of prenatal diagnosis
Peter A Benn1, James F X Egan, Min Fang
1Division of Human Genetics, Department of Genetics and Developmental Biology, University of Connecticut Health Center, 263 Farmington Avenue, Farmington, CT 06030-6140, USA. benn@nsol.uchc.edu
Obstetrics and Gynecology
|June 3, 2004
Summary
Prenatal screening for Down syndrome saw a significant decline in invasive testing, yet detection rates improved. Advances in non-invasive methods led to more selective use of amniocentesis and chorionic villus sampling.
Area of Science:
- Medical Genetics
- Prenatal Diagnostics
- Cytogenetics
Background:
- Prenatal screening effectiveness is often assessed assuming full protocol adherence.
- Actual clinical practice may differ, necessitating analysis of laboratory data.
- Understanding trends in prenatal testing is crucial for evaluating screening programs.
Purpose of the Study:
- To measure the real-world effectiveness of prenatal screening for Down syndrome.
- To analyze trends in invasive prenatal testing (amniocentesis and CVS) utilization.
- To assess changes in the detection of cytogenetic abnormalities over time.
Main Methods:
- Retrospective review of amniotic fluid and chorionic villus samples (CVS) from 1991-2002.
- Analysis of trends in prenatal testing referrals and identified cytogenetic abnormalities.
- Evaluation of testing patterns based on maternal age and other indications.
Main Results:
- A >50% decline in amniocentesis/CVS procedures was observed between 1991 and 2002.
- Testing solely for advanced maternal age decreased by 68%.
- Prenatal detection of Down syndrome fetuses increased, with approximately 50% of affected pregnancies identified; the proportion of tests revealing chromosomal abnormalities rose from 2.3% to 7.0%.
Conclusions:
- Maternal serum screening and ultrasonography have led to more judicious use of invasive prenatal diagnostic procedures.
- Clinical practice has adapted, with fewer women undergoing invasive testing for age alone.
- Despite reduced invasive testing, the yield of significant chromosomal abnormalities per test has increased.