Soergel P, Pruggmayer M, Schwerdtfeger R, Muhlhaus K, Scharf A
Department of Obstetrics and Gynecology, Division of Prenatal Medicine, Hannover Medical School, Germany.
Fetal Diagn Ther. 2006;21(3):264-8. doi: 10.1159/000091353.
To examine the efficacy of first trimester screening for trisomy 21 using a combination of maternal age, fetal nuchal translucency (NT), maternal serum free beta-human chorionic gonadotropin (free beta-hCG) and pregnancy-associated plasma protein A (PAPP-A) in a regional setting [maternity unit of the Women's University Hospital, Hannover Medical School (study center); two regional private centers for prenatal diagnosis and human genetics; laboratory for prenatal diagnosis and human genetics].
Fetal NT, crown-rump length, maternal serum free beta-hCG and PAPP-A were measured at 11-14 weeks of gestation. Risk calculation was carried out using the FMF computer algorithm. The patients were informed and counseled about possible invasive test options if the risk was 1 in 300 or greater. Fetal outcome was obtained by questionnaires given to the patients or sent to their gynecologists. The detection and false-positive rates for the different screening strategies were calculated.
Pregnancy outcome was obtained in 2,497 cases, of which 2,196 cases had completed first trimester screening with NT and maternal serum biochemistry and 301 additional cases had NT measurement only. The median age was 32.5 years. In our population 11 affected fetuses were found. The estimated risk for trisomy 21 was 1 in 300 or greater in 64, 82, 88 and 88% of affected fetuses using maternal age alone, in combination with nuchal translucency, with maternal serum biochemical markers or with both NT and biochemical markers for a false-positive rate of 28.2, 5.1, 15.3 and 4.0%.
First trimester screening using maternal age, NT, free beta-hCG and PAPP-A is highly effective for the detection of trisomy 21 and is associated with a sensitivity of about 90% for 5% false-positive patients.
在区域环境中[汉诺威医学院妇女大学医院妇产科（研究中心）；两个区域产前诊断和人类遗传学私立中心；产前诊断和人类遗传学实验室]，研究将孕妇年龄、胎儿颈部透明带（NT）、孕妇血清游离β-人绒毛膜促性腺激素（游离β-hCG）和妊娠相关血浆蛋白A（PAPP-A）相结合进行孕早期21三体综合征筛查的效果。
在妊娠11至14周时测量胎儿NT、头臀长度、孕妇血清游离β-hCG和PAPP-A。使用FMF计算机算法进行风险计算。如果风险为1/300或更高，会告知患者并为其提供可能的侵入性检测选项咨询。通过向患者发放问卷或发送给其妇科医生来获取胎儿结局。计算不同筛查策略的检测率和假阳性率。
获得了2497例妊娠结局，其中2196例完成了NT和孕妇血清生化指标的孕早期筛查，另外301例仅进行了NT测量。中位年龄为32.5岁。在我们的人群中发现了11例受影响胎儿。仅使用孕妇年龄、与颈部透明带相结合（NT）、与孕妇血清生化标志物相结合或同时使用NT和生化标志物时，21三体综合征的估计风险在64%、82%、88%和88%的受影响胎儿中为1/300或更高，假阳性率分别为28.2% 、5.1%、15.3%和4.0%。
使用孕妇年龄、NT、游离β-hCG和PAPP-A进行孕早期筛查对21三体综合征的检测非常有效，对于5%假阳性患者，其灵敏度约为90%。
