Chasen S T, Sharma G, Kalish R B, Chervenak F A
Department of Obstetrics and Gynecology, Division of Maternal-Fetal Medicine, Weill Medical College of Cornell University, New York 10021, USA.
Ultrasound Obstet Gynecol. 2003 Aug;22(2):149-51. doi: 10.1002/uog.174.
To examine the detection rate of chromosomal abnormalities using a combination of nuchal translucency (NT) and maternal age in a United States population.
A total of 2131 pregnancies with 2339 fetuses underwent NT screening from April 2000 to April 2002 in our ultrasound unit. Nuchal translucency was measured from 11 to 14 weeks' gestation. Fetal crown-rump length (CRL) was also measured. The risk for trisomy 21 was calculated from a combination of maternal age and fetal NT with the use of software provided by The Fetal Medicine Foundation (FMF). Sensitivity and false-positive rates were calculated for different risk cut-offs.
Chromosomal defects were diagnosed in 32 cases, including 12 cases of trisomy 21 and 10 cases of trisomy 18. The estimated risk based on maternal age and fetal NT was 1 in 300 or greater in 195 (8.3%) cases and these included 10/12 (83.3%) pregnancies with trisomy 21 and 9/10 (90.0%) pregnancies with trisomy 18.
A combination of maternal age and fetal NT provides an effective method of screening for chromosomal defects. Using ultrasound techniques and risk algorithms from The FMF, the performance of the test in an American population is similar to that described in international populations.
在美国人群中，研究联合使用颈部透明带（NT）厚度和孕妇年龄检测染色体异常的检出率。
2000年4月至2002年4月，我们超声科对2131例妊娠的2339例胎儿进行了NT筛查。在妊娠11至14周时测量颈部透明带厚度。同时测量胎儿头臀长度（CRL）。使用胎儿医学基金会（FMF）提供的软件，根据孕妇年龄和胎儿NT厚度计算21三体综合征的风险。计算不同风险截断值时的敏感性和假阳性率。
共诊断出32例染色体缺陷，其中12例为21三体综合征，10例为18三体综合征。根据孕妇年龄和胎儿NT厚度估计的风险在195例（8.3%）中为1/300或更高，其中包括10/12（83.3%）例21三体综合征妊娠和9/10（90.0%）例18三体综合征妊娠。
孕妇年龄和胎儿NT厚度联合使用为筛查染色体缺陷提供了一种有效的方法。采用FMF的超声技术和风险算法，该检测方法在美国人群中的表现与国际人群中描述的相似。
