对30564例妊娠进行孕早期21三体综合征的前瞻性筛查。
Prospective first-trimester screening for trisomy 21 in 30,564 pregnancies.
作者信息
Avgidou Kyriaki, Papageorghiou Aris, Bindra Renu, Spencer Kevin, Nicolaides Kypros H
机构信息
Harris Birthright Research Centre for Fetal Medicine, King's College Hospital, London, UK.
出版信息
Am J Obstet Gynecol. 2005 Jun;192(6):1761-7. doi: 10.1016/j.ajog.2005.03.021.
OBJECTIVE
This study was undertaken to evaluate the performance of a 1-stop clinic for first-trimester assessment of risk (OSCAR) for trisomy 21 by a combination of maternal age, fetal nuchal translucency (NT) thickness, and maternal serum-free ss- human chorionic gonadotrophin (hCG) and pregnancy-associated plasma protein-A (PAPP-A).
STUDY DESIGN
OSCAR was carried out in 30,564 pregnancies at 11 to 13 + 6 weeks. Patient-specific risks for trisomy 21 and detection and false-positive rates were calculated.
RESULTS
The median maternal age was 34 (range 15-49) years. Chromosomal abnormalities were identified in 330 pregnancies, including 196 cases of trisomy 21. The estimated risk for trisomy 21 was 1 in 300 or greater in 7.5% of the normal pregnancies, in 93.4% of those with trisomy 21 and in 88.8% of those with other chromosomal defects.
CONCLUSION
The most effective method of screening for chromosomal defects is by first-trimester fetal NT and maternal serum biochemistry.
目的
本研究旨在通过结合孕妇年龄、胎儿颈部透明带（NT）厚度、孕妇血清游离β-人绒毛膜促性腺激素（hCG）和妊娠相关血浆蛋白-A（PAPP-A）来评估一站式孕早期风险评估诊所（OSCAR）对21三体综合征的评估表现。
研究设计
在11至13⁺⁶周的30564例妊娠中开展了OSCAR。计算了特定患者的21三体综合征风险以及检测率和假阳性率。
结果
孕妇年龄中位数为34岁（范围15 - 49岁）。在330例妊娠中发现了染色体异常，其中包括196例21三体综合征。在7.5%的正常妊娠、93.4%的21三体综合征妊娠和88.8%的其他染色体缺陷妊娠中，21三体综合征的估计风险为1/300或更高。
结论
筛查染色体缺陷的最有效方法是孕早期胎儿NT检测和孕妇血清生化检测。
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