Wellesley Diana, Boyle Tracy, Barber John, Howe David T
Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton SO16 5YA.
BMJ. 2002 Jul 6;325(7354):15. doi: 10.1136/bmj.325.7354.15.
To compare the effectiveness of different screening policies for the antenatal detection of Down's syndrome.
Retrospective six year survey.
Maternity units of eight districts.
Women who completed their pregnancies between 1 January 1994 and 31 December 1999 (155 501 deliveries).
Cases of Down's syndrome identified before 24 weeks' gestation.
335 cases of Down's syndrome were identified, 323 in continuing pregnancies or liveborn children. Of these, 171 were identified antenatally. Seven different screening policies were used, in three principal groups: serum screening offered to all mothers, maternal age with serum screening or nuchal translucency available to limited groups, and maternal age combined with anomaly scans. The districts that used serum screening detected 57%, those using maternal age plus serum or nuchal translucency screening 52%, and those using a maternal age of > or =35 and anomaly scans detected 54%. The least successful district, which offered amniocentesis only to women aged over 37 years, detected only 31%. If amniocentesis had been offered from 35 years, as in all other districts, the detection rate would have risen to 54%. Across the region 15% (range 12-20%) of pregnant women were 35 years or more at delivery, and 58% (33-69%) of infants with Down's syndrome were born to women in this age range.
Current additional serum or nuchal translucency screening techniques for antenatal detection of Down's syndrome are less advantageous than previously supposed. More pregnant women were aged over 35 than has been presumed in statistical models used in demonstration projects of serum screening and, as a result, the proportion of affected fetuses in this age group is much greater than predicted.
比较不同唐氏综合征产前筛查策略的有效性。
回顾性六年调查。
八个区的产科病房。
在1994年1月1日至1999年12月31日期间完成妊娠的妇女(155501例分娩)。
孕24周前确诊的唐氏综合征病例。
共确诊335例唐氏综合征,其中323例为继续妊娠或活产儿。其中,171例为产前确诊。采用了七种不同的筛查策略,主要分为三组:对所有母亲进行血清筛查;对有限人群提供结合血清筛查或颈部透明带扫描的母亲年龄筛查;母亲年龄结合超声结构畸形筛查。采用血清筛查的地区检出率为57%,采用母亲年龄加血清或颈部透明带筛查的地区为52%,采用母亲年龄≥35岁并结合超声结构畸形筛查的地区为54%。最不成功的地区仅对37岁以上妇女进行羊水穿刺检查,检出率仅为31%。如果像其他所有地区一样从35岁开始提供羊水穿刺检查,检出率将升至54%。在该地区,15%(范围12 - 20%)的孕妇分娩时年龄在35岁及以上,58%(33 - 69%)的唐氏综合征婴儿出生于这个年龄范围的妇女。
目前用于唐氏综合征产前检测的血清或颈部透明带附加筛查技术的优势不如先前认为的那样明显。年龄超过35岁的孕妇比血清筛查示范项目中使用的统计模型所假设的更多,因此,该年龄组中受影响胎儿的比例远高于预期。