First‐trimester screening for trisomy 21 combining biochemistry and ultrasound at individually optimal gestational ages. An interventional study
- 1 July 2004
- journal article
- research article
- Published by Wiley in Prenatal Diagnosis
- Vol. 24 (7) , 541-545
- https://doi.org/10.1002/pd.949
Abstract
Objective: To assess the effectiveness of the Combined Test in the prenatal detection of trisomy 21 in the general pregnant population using a new timing for the screening approach.Methods: First‐trimester maternal serum biochemical markers (pregnancy‐associated plasma protein‐A and free‐β hCG) were determined in maternal serum at 7 to 12 weeks. Fetal nuchal translucency and gestational age were assessed at the 10‐ to 14‐week ultrasound scan. A combined risk was estimated and delivered to the women the same day. When the risk was 1:250 or above, chorionic villus sampling was offered.Results: Mean gestational age at biochemistry was 9.4 weeks, being 12.3 at ultrasound. In the 2780 studied pregnancies with a complete follow‐up, observed detection rates were 88% (7/8) for trisomy 21 and 75% (3/4) for trisomy 18, with a 3.3% (92/2765) false‐positive rate.Conclusion: The Combined Test, assessing biochemistry and ultrasound at individually optimal ages in the first trimester, showed an 88% detection rate for trisomy 21 with a remarkably reduced false‐positive rate (3.3%). Copyright © 2004 John Wiley & Sons, Ltd.Keywords
This publication has 19 references indexed in Scilit:
- Screening for chromosomal abnormalities in the first trimester using ultrasound and maternal serum biochemistry in a one‐stop clinic: a review of three years prospective experienceBJOG: An International Journal of Obstetrics and Gynaecology, 2003
- Screening for trisomy 21 by maternal age, fetal nuchal translucency and maternal serum biochemistry at 11-14 weeks: a German multicenter studyThe Journal of Maternal-Fetal & Neonatal Medicine, 2002
- The first trimester ‘combined test’ for the detection of Down syndrome pregnancies in 4939 unselected pregnanciesPrenatal Diagnosis, 2002
- Evaluation of first trimester maternal serum and ultrasound screening for Down's syndrome in Eastern and Northern FinlandEuropean Journal of Human Genetics, 2001
- Major decrease in the incidence of trisomy 21 at birth in south Belgium: mass impact of triple test?European Journal of Human Genetics, 2001
- First-trimester screening for Down syndrome using nuchal translucency measurement with free β-hCG and PAPP-A between 10 and 13 weeks of pregnancy—the combined testPrenatal Diagnosis, 1999
- A screening program for trisomy 21 at 10–14 weeks using fetal nuchal translucency, maternal serum free β‐human chorionic gonadotropin and pregnancy‐associated plasma protein‐AUltrasound in Obstetrics & Gynecology, 1999
- First trimester screening for Down's syndrome using maternal serum PAPP-A and free beta=hCG in combination with fetal nuchal translucency thicknessBJOG: An International Journal of Obstetrics and Gynaecology, 1998
- First‐trimester screening for fetal aneuploidy: biochemistry and nuchal translucencyUltrasound in Obstetrics & Gynecology, 1997
- Fetal nuchal translucency: ultrasound screening for fetal trisomy in the first trimester of pregnancyBJOG: An International Journal of Obstetrics and Gynaecology, 1994