Down syndrome maternal serum marker screening after 18 weeks of gestation: a countrywide study - 19/02/13

Doi : 10.1016/j.ajog.2013.01.039

Sophie Dreux, MD ^a, Claire Nguyen, MD ^a, Isabelle Czerkiewicz, MD ^a, Thomas Schmitz, MD, PhD ^b, Elie Azria, MD, PhD ^c, Marc-Antoine Fouré ^d, Françoise Muller, MD, PhD ^a,^e
ABA Study Group
^a Department of Biochemistry Hôpital Robert Debré, Assistance Publique-Hôpitaux de Paris, Université Paris VII René Diderot, Paris, France
^b Department of Gynecology and Obstetrics, Hôpital Robert Debré, Assistance Publique-Hôpitaux de Paris, Université Paris VII René Diderot, Paris, France
^c Department of Gynecology and Obstetrics, Hôpital Bichat, Assistance Publique-Hôpitaux de Paris, Université Paris VII Denis Diderot, Paris, France
^d Société PerkinElmer France, Villebon sur Yvette, France
^e Department of Biochemistry, Université Paris Ile de France Ouest, Versailles Saint-Quentin, Paris, France

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Résumé

Objective

The objective of the study was to evaluate the efficacy of maternal serum markers in detecting Down syndrome after 18 weeks of gestation in women who book late for maternity care in a large national retrospective study.

Study Design

During the period 2007-2012, 27,648 women, regardless of maternal age (17.4% were 35 years old and over), were included in a late Down syndrome screening program (18⁺⁰ to 35⁺⁶ weeks) using the maternal serum markers alpha-fetoprotein and human chorionic gonadotrophin-beta. Samples were assayed in a single laboratory. A dataset of median markers previously established in our laboratory was used for risk calculation. The control group consisted of 27,648 women (14⁺⁰ to 17⁺⁶ weeks) randomly selected from the routine database.

Results

When the later screening group was compared with the standard second-trimester control group, the median multiples of medians (1.01 vs 0.98 for alpha-fetoprotein, 1.03 vs 0.98 for human chorionic gonadotrophin-beta), median risks (1 of 2414 vs 1 of 2720), false-positive rates (11.1% vs 11.6%), and trisomy 21 detection rates (83.3% vs 85.7%) did not differ significantly.

Conclusion

Late Down syndrome maternal serum screening is feasible with a good sensitivity/specificity compromise throughout gestation and is of clinical value in late-booking women.

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Key words : alpha-fetoprotein, human chorionic gonadotrophin, late-booking women, trisomy 21

Plan

Materials and Methods

Results

Comment

	The ABA Study Group is listed in the Appendix.
	The authors report no conflict of interest.
	Reprints not available from the authors.
	Cite this article as: Dreux S, Nguyen C, Czerkiewicz I, et al. Down syndrome maternal serum marker screening after 18 weeks of gestation: a countrywide study. Am J Obstet Gynecol 2013;208:xx-xx.