[颈项透明层增厚在胎儿染色体异常筛查中的价值]
[Value of nuchal translucency thickening in the fetal chromosome abnormality screening].
作者信息
Sun Li-juan, Wang Xin, Wu Qing-qing, Ruan Yan, Yao Ling
机构信息
Department of Ultrasound,Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing 100026, China.
Department of Obstetrics,Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing 100026. Email:
出版信息
Zhonghua Fu Chan Ke Za Zhi. 2013 Nov;48(11):819-23.
OBJECTIVE
To investigate the value of nuchal translucency(NT) thickening in the fetal chromosome abnormality screening.
METHODS
The 14 881 pregnant women received NT measurement in 11-13(+)6 weeks at Beijing Obstetrics and Gynecology Hospital from January 2010 to August 2012. The 118 fetuses whose NT ≥ 2.5 mm were recruited.One hundred and eight (91.5%, 108/118) of them accepted invasive procedure and karyotype analysis.
RESULTS
(1) Chromosome karyotype analysis: 113 singleton pregnancies (95.8%) and 5 twin pregnancies (4.2%) whose NT thickened from 2.5 mm to 11.0 mm were advised karyotype analysis. The 108 pregnant women accepted karyotype analysis. Among them, 88 had normal chromosome karyotype, and 20 had chromosome abnormalities. The detection rate was 18.5% (20/108).(2) The sensitivity, specificity, false positive rate, false negative rate, total consistent rate, positive predictive value and negative predictive value of prenatal screening of chromosome abnormalities for NT ≥ 2.5 mm were 44%, 99%, 1%, 56%, 99%, 19% and 100%, respectively.(3) Among the 88 fetuses who had normal karyotype, 72 (82%) had isolated thickened NT, while 16 (18%) had fetal structural malformation or intrauterine demise.(4) Among the 10 pregnant women who did not accept fetal karyotype analysis, 8 terminated pregnancy because of fetal structural malformation, and the other 2 fetuses died in uterus.(5) All of the 5 twin pregnancies were dichorionic twins, and one of the twins had thickened NT. Among the 5 twin pregnancies, one fetus was trisomy 21 and others had normal karyotype.3 twin pregnancies who had normal chromosomes gave live birth. And the other had a gastroschisis and exstrophy deformity fetuse. This fetuse died in uterus and remaining fetuse had full-term live birth.(6) 35 (29.7%) pregnant women received second trimester Down's syndrome serum screening.One was high risk and was proved a trisomy 21 pregnancy. Thirty-four were low risk and had normal chromosome karyotype.
CONCLUSION
NT thickening may indicate fetal chromosome abnormalities or other structural malformations. It is a useful prenatal screening indicator.
目的
探讨颈部透明带（NT）增厚在胎儿染色体异常筛查中的价值。
方法
2010年1月至2012年8月在北京妇产医院对14881例孕周为11 - 13⁺⁶周的孕妇进行NT测量。纳入NT≥2.5 mm的胎儿118例。其中108例（91.5%，108/118）接受了侵入性检查及核型分析。
结果
（1）染色体核型分析：113例单胎妊娠（95.8%）和5例双胎妊娠（4.2%）的NT增厚，范围从2.5 mm至11.0 mm，建议进行核型分析。108例孕妇接受了核型分析。其中88例染色体核型正常，20例染色体异常。检出率为18.5%（20/108）。（2）NT≥2.5 mm的染色体异常产前筛查的灵敏度、特异度、假阳性率、假阴性率、总符合率、阳性预测值和阴性预测值分别为44%、99%、1%、56%、99%、19%和100%。（3）在88例核型正常的胎儿中，72例（82%）为单纯NT增厚，16例（18%）合并胎儿结构畸形或宫内死亡。（4）在10例未接受胎儿核型分析的孕妇中，8例因胎儿结构畸形终止妊娠，另外2例胎儿死于宫内。（5）5例双胎妊娠均为双绒毛膜双胎，其中1例双胎之一NT增厚。5例双胎妊娠中，1例胎儿为21 - 三体，其余核型正常。3例染色体正常的双胎妊娠分娩活婴。另1例有腹裂和膀胱外翻畸形胎儿，该胎儿死于宫内，存活胎儿足月分娩。（6）35例（29.7%）孕妇接受了孕中期唐氏综合征血清学筛查。1例高危，确诊为21 - 三体妊娠。34例低危，染色体核型正常。
结论
NT增厚可能提示胎儿染色体异常或其他结构畸形，是一项有用的产前筛查指标。
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