Leporrier Nathalie, Herrou Michel, Morello Rémy, Leymarie Pierre
Department of Genetics and Reproduction, CHU, Caen, France.
BJOG. 2003 Jan;110(1):18-21.
Pregnancy with Down's Syndrome is often terminated by miscarriage. We have investigated whether prenatal screening would lead preferentially to the identification of fetuses with Down's Syndrome prone to abort spontaneously.
A comparison between the observed and the expected decrease in the prevalence of Down's Syndrome at term following extensive prenatal screening.
A study from 1990 to 1998 in a limited and well controlled area of western France (Basse Normandie), with a birth rate close to 20,000 a year.
Women under 38 years of age among whom prenatal screening for Down's Syndrome using biochemical tests and ultrasound findings became progressively extensive in this era.
Our study was based on the registration of Down's Syndrome cases detected prenatally from screening, and live births with Down's Syndrome. Fetal loss rate in the population of prenatally detectable Down's Syndrome was evaluated by comparing the increase in detection of cases of Down's Syndrome following prenatal screening with the expected decrease in the number of cases of Down's Syndrome at birth. The results obtained were compared with published data on the rates of fetal losses postulated to occur among fetuses with Down's Syndrome.
Comparison of the potential fetal loss rate in a population in whom Down's Syndrome was detected prenatally with the expected fetal loss rate of unselected ones.
Prenatal screening resulted in a significant (42%) decrease (P < 0.001) in the prevalence at term of the disorder. Among the 53 fetuses with Down's Syndrome detected prenatally during the last three years of the study, about 50% would have aborted spontaneously if the pregnancy had been allowed to continue. This figure was significantly higher (P < 0.002) than expected on the basis of results from the literature, indicating that current estimates of miscarriage rates among fetuses with Down's Syndrome do not apply to the selected group of cases detectable from prenatal screening.
Our results suggest that fetuses with Down's Syndrome detectable prenatally from screening are more likely to abort spontaneously than fetuses with Down's Syndrome which are not detected.
唐氏综合征妊娠常以自然流产告终。我们研究了产前筛查是否会优先识别出易自然流产的唐氏综合征胎儿。
广泛产前筛查后足月时唐氏综合征患病率的观察值与预期值下降情况的比较。
1990年至1998年在法国西部一个有限且管控良好的地区(下诺曼底)进行的一项研究,年出生率接近20000。
年龄在38岁以下的女性,在此期间,使用生化检测和超声检查结果对唐氏综合征进行的产前筛查逐渐广泛。
我们的研究基于产前筛查发现的唐氏综合征病例登记以及唐氏综合征活产病例。通过比较产前筛查后唐氏综合征病例检出率的增加与预期出生时唐氏综合征病例数的减少,评估可产前检测出的唐氏综合征人群中的胎儿丢失率。将所得结果与已发表的关于唐氏综合征胎儿中假定发生的胎儿丢失率数据进行比较。
比较产前检测出唐氏综合征人群中的潜在胎儿丢失率与未筛选人群的预期胎儿丢失率。
产前筛查使该疾病足月患病率显著下降(42%)(P < 0.001)。在研究的最后三年中产前检测出的53例唐氏综合征胎儿中,如果允许妊娠继续,约50%会自然流产。这一数字显著高于(P < 0.002)根据文献结果预期的数字,表明目前对唐氏综合征胎儿流产率的估计不适用于通过产前筛查可检测出的特定病例组。
我们的结果表明,通过筛查可产前检测出的唐氏综合征胎儿比未被检测出的唐氏综合征胎儿更易自然流产。