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Trends in invasive prenatal diagnostic testing at a single institution
Adeola Awomolo1, Kristy Palomares1, Guadalupe Herrera Garcia1
1Department of Obstetrics and Gynecology, Rutgers Robert Wood Johnson Medical School, New Brunswick, NJ, USA.
Prenatal Diagnosis
|May 31, 2018
Summary
Invasive prenatal testing rates declined, particularly for advanced maternal age, while diagnostic yield increased. Testing for single gene disorders rose, indicating a shift in testing indications.
Area of Science:
- Maternal-Fetal Medicine
- Prenatal Diagnostics
- Genetics
Background:
- Diagnostic methodologies for prenatal testing are continually evolving.
- Understanding trends in invasive testing is crucial for clinical practice and patient counseling.
Purpose of the Study:
- To evaluate changes in invasive prenatal testing rates.
- To identify shifts in the primary indications for these tests.
- To assess the impact of evolving diagnostics on the yield of invasive testing.
Main Methods:
- Retrospective observational study (2006-2015).
- Quantified annual invasive procedure numbers (amniocentesis, CVS).
- Analyzed indications for testing and the percentage of abnormal results.
Main Results:
- Amniocentesis rates declined; CVS rates increased. The percentage of abnormal results rose from 11.4% to 27.0%.
- Advanced maternal age as the sole indication decreased significantly. Testing for known single gene disorders increased.
- Aneuploidy screening remained a constant indication for abnormal results.
Conclusions:
- Invasive prenatal testing shows a declining trend in amniocentesis, with a notable increase in diagnostic yield.
- The primary indications are shifting away from advanced maternal age towards genetic testing for specific disorders.
- These trends reflect advancements in diagnostic methodologies and evolving clinical practice.
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