Screening for Down syndrome using first-trimester combined screening followed by second-trimester ultrasound examination in an unselected population - 20/08/11
, Laurence Bussières, PhD b, Sylvie Chevret, MD, PhD c, Jean Pierre Bernard, MD a, Lydia Malagrida, MD d, Howard Cuckle, MD e, Chantal Chabry, MD f, Isabelle Durand-Zaleski, MD, PhD g, Laurent Bidat, MD a, Isabelle Lacroix, PhD h, Max Moulis, MD i, Marc Roger, MD j, Marie Christine Jacquemot, MD k, Jean Philippe Bault, MD l, Philippe Boukobza, MD k, Patrick Boccara, MD m, Francois Vialard, MD a, Yves Giudicelli, MD, PhD d, Yves Ville, MD a
Reprint requests: Patrick Rozenberg, Centre hospitalier Poissy-Saint-Germain, Rue du Champ, Gaillard 78303, Poissy Cedex, France.Abstract |
Objective |
Recent studies have reported the efficacy of first-trimester combined screening for Down syndrome based on maternal age, serum markers (human chorionic gonadotropin, pregnancy-associated plasma protein A), and ultrasound measurement of fetal nuchal translucency. However, those do not incorporate the value of the widely accepted routine 20-22 weeks’ anomaly scan.
Study design |
We carried out a multicenter, interventional study in the unselected population of a single health authority in order to assess the performance of first-trimester combined screening, followed by routine second trimester ultrasound examination and/or screening by maternal serum markers (free β-hCG and alpha-fetoprotein measurement or total hCG, alpha-fetoprotein, and unconjugated estriol measurement) when incidentally performed. Detection and screen positive rates were estimated using a correction method for nonverified issues. A cost analysis was also performed.
Results |
During the study period, 14,934 women were included. Fifty-one cases of Down syndrome were observed, giving a prevalence of 3.4 per 1000 pregnancies. Of these, 46 were diagnosed through first (n = 41) or second (n = 5) trimester screening. Among the 5 screen-negative Down syndrome cases, all were diagnosed postnatally after an uneventful pregnancy. Detection and screen positive rates of first-trimester combined screening were 79.6% and 2.7%, respectively. These features reached 89.7%, and 4.2%, respectively, when combined with second-trimester ultrasound screening. The average cost of the full screening procedure was 108 € ($120) per woman and the cost per diagnosed Down syndrome pregnancy was 7,118 € ($7909).
Conclusion |
Our findings suggest that 1 pragmatic interventional 2-step approach using first-trimester combined screening followed by second-trimester detailed ultrasound examination is a suitable and acceptable option for Down syndrome screening in pregnancy.
Le texte complet de cet article est disponible en PDF.Key words : Down syndrome, Screening, Free human chorionic gonadotropin, Pregnancy-associated plasma protein A, Fetal nuchal translucency, Ultrasound, Cost
Plan
| Supported by Clinical Research Department, Assistance Publique-Hôpitaux de Paris. |
Vol 195 - N° 5
P. 1379-1387 - novembre 2006 Retour au numéro
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