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[First trimester Down syndrome screening program using nuchal translucency and maternal serum markers: the Echo
L Bussières1, P Rozenberg, J-P Bault
1Service de Gynécologie Obstétrique et Biologie de la Reproduction, Centre Hospitalier de Poissy-Saint-Germain, 78300 Poissy.
Journal De Gynecologie, Obstetrique Et Biologie De La Reproduction
|February 18, 2004
Summary
This study introduces an early screening program for Down syndrome (DS) using ultrasound and biochemical markers. The new method reduces unnecessary karyotypes and abortions by accurately assessing risk in pregnancies.
Area of Science:
- Prenatal Diagnosis
- Maternal-Fetal Medicine
- Genetics
Background:
- Previous Down syndrome (DS) screening methods led to overprescription of karyotypes and induced abortions.
- In Yvelines, France, DS screening resulted in a 16% karyotype rate, indicating potential overutilization.
Purpose of the Study:
- To validate an early DS screening program combining ultrasound and biochemical markers.
- To assess the reproducibility of this novel screening method in routine clinical practice.
Main Methods:
- Implemented a combined screening approach using ultrasonography, Pregnancy-associated plasma protein A, and free ss-hCG.
- Conducted a study from January 1, 2001, to December 31, 2002, in Yvelines, France.
- Collaborated with multiple healthcare partners including research delegations, insurance funds, maternity networks, ultrasound associations, and biology laboratories.
Main Results:
- The early screening method demonstrated high sensitivity (85%) for Down syndrome detection.
- The program achieved a reduced false positive rate of approximately 5% for karyotype referrals.
- The study confirmed the method's validity and reproducibility in a real-world setting.
Conclusions:
- The combined ultrasound and biochemical marker screening effectively reduces unnecessary karyotypes and associated pregnancy terminations.
- This early detection strategy offers a more accurate and efficient approach to prenatal screening for Down syndrome.
- The validated method is suitable for routine implementation in maternity care settings.