Anselem O, Keroui S, Deput-Rampon C, Chartier M, Costa J-M, Goffinet F, Tsatsaris V
Maternité Port-Royal, université Paris Descartes, groupe hospitalier Cochin Broca Hôtel-Dieu, Assistance publique-Hôpitaux de Paris, 53, avenue de l'Observatoire, 75014 Paris, France; DHU risques et grossesse, PRES Sorbonne Paris Cité, 53, avenue de l'Observatoire, 75014 Paris, France.
Maternité Port-Royal, université Paris Descartes, groupe hospitalier Cochin Broca Hôtel-Dieu, Assistance publique-Hôpitaux de Paris, 53, avenue de l'Observatoire, 75014 Paris, France; DHU risques et grossesse, PRES Sorbonne Paris Cité, 53, avenue de l'Observatoire, 75014 Paris, France.
J Gynecol Obstet Biol Reprod (Paris). 2016 Oct;45(8):918-923. doi: 10.1016/j.jgyn.2015.12.006. Epub 2016 Jan 15.
To assess the determinants associated with the use of analysis of cell-free DNA in maternal blood for detection of trisomy 21 in high-risk women.
Prospective study conducted in a single center between July 15, 2014 and December 15, 2014 on 99 consecutive women with increased risk of trisomy 21 above 1/250.
Analysis of cell-free DNA in maternal blood for detection of fetal trisomy 21 was proposed to 95 women out of 99, among them, 43 women (45.3%) required the test. Among these 43 women, 17 (38.6%) had a higher socio-economic status versus 10 (19.2%) among the women who did not request the test (P=0.03). The most common reason given by the 52 women who did not request the analysis of cell-free DNA was the cost, for 30 of them (57.7%), then because the test was not providing certainty for the diagnostic of trisomy 21 for 23 women (44.2%).
Analysis of cell-free DNA on maternal blood for detection of trisomy 21 does not seem accepted by the majority of women. The cost is probably the main reason for not using this test, but it seems that the lack of diagnostic certainty is also an obstacle for some women.
评估与在高危女性中使用母血游离DNA分析检测21三体综合征相关的决定因素。
2014年7月15日至2014年12月15日在单一中心进行的前瞻性研究，纳入99例21三体综合征风险高于1/250的连续女性。
99例女性中有95例被建议进行母血游离DNA分析以检测胎儿21三体综合征，其中43例女性（45.3%）要求进行该检测。在这43例女性中，17例（38.6%）社会经济地位较高，而未要求检测的女性中有10例（19.2%）社会经济地位较高（P = 0.03）。未要求进行游离DNA分析的52例女性给出的最常见原因是费用，其中30例（57.7%）是因为费用，另外23例（44.2%）是因为该检测不能确诊21三体综合征。
母血游离DNA分析检测21三体综合征似乎未被大多数女性接受。费用可能是不使用该检测的主要原因，但对于一些女性来说，缺乏诊断确定性似乎也是一个障碍。
