超声检查胎儿鼻前软组织厚度筛查唐氏综合征的临床价值

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摘要目的：通过超声观察并测量胎儿鼻前软组织厚度（PT），建立中孕期PT正常参考值范围，探讨PT与胎儿唐氏综合征（DS）的关系，评价其作为超声软指标产前筛查DS的价值。方法：2012年2月至2014年2月行系统超声检查的正常胎儿597例，同期选取经产前诊断为DS的存活胎儿46例，孕周16～25周，应用二维超声对胎儿进行PT检测。PT定义为胎儿头颅正中矢状切面，额骨最低点（相当于额骨与鼻骨的连接点）的前缘与鼻梁皮肤前缘之间的距离。结果：正常组胎儿PT厚度与孕周呈线性相关（r=0.725，P＜0.001），PT随孕周增加而增厚，从16孕周的（2.2±0.4）mm增厚至25孕周的（4.7±0.5）mm。正常组胎儿3.4%（20/597）PT＞P95，DS组胎儿69.6%（32/46）PT＞同孕周正常胎儿P95，差异有统计学意义（P＜0.001）。将PT＞同孕周正常胎儿P95定义为PT增厚，作为产前筛查DS的截断值，其敏感性为69.6%，特异性为96.3%，阳性预测值为64.0%，阴性预测值为97.1%，阳性似然比为19.0，阴性似然比为0.32。结论：PT增厚与DS关系密切，是产前筛查DS的有效超声软指标。

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关键词 ：超声检查, 产前, 胎儿, 唐氏综合征, 鼻前软组织厚度

Abstract：Objective: To construct a reference range for fetal prenasal thickness of second trimester fetuses with prenatal ultrasonograpy and to explore the relationship between the thickness in fetuses with Down syndrome. To evaluate the clinical value of prenasal thickness in scanning Down syndrome. Methods: The fetal profile was acquired from 597 normal fetuses and 46 fetuses with trisomy 21 at 16～25 weeks’ gestation between February 2012 and February 2014. Two-dimensional ultrasound was used to obtain the exact mid-sagittal plane and the prenasal thickness between the anterior edge of the lowest part of the frontal bone (at the junction with the nasal bone when present) and the skin anteriorly. Results: In the normal group prenasal thickness increased with gestation from a mean of (2.2± 0.4) mm at 16 weeks to (4.7±0.5) mm at 25 weeks (r=0.725, P<0.001). In 32 (69.6%) cases of the trisomy-21 fetuses the prenasal thickness was above the 95th centile of the normal range. When prenasal thickness above the 95th centile of the normal range was used as a cut-off, the sensitivity for Down syndrome. was 69.6%, the specificity was 96.3%, the positive predictive value was 64.0%, the negative predictive value was 97.1%, the positive likelihood ratio was 19.0, the negative likelihood ratio was 0.32. Conclusion: Increased prenasal thickness is a high risk for DS and can be used as a prenatal ultrasonographic mark in scanning Down syndrome.

Key words： ultrasonograpy prenatal fetus Down syndrome prenasal thickness

收稿日期: 2015-05-18

基金资助:浙江省卫生厅科研基金资助项目（201233890）。

作者简介: 叶风（1971-），女，浙江温州人，主任医师，硕士。

链接本文:

https://xb.wmu.edu.cn/CN/ 或 https://xb.wmu.edu.cn/CN/Y2016/V46/I2/129

[1] 石晓梅, 方群, 陈宝江, 等. 超声软指标在筛查胎儿21三体综合征中的应用[J]. 中华妇产科杂志, 2013, 48(2): 81-85.
[2] AGATHOKLEOUS M, CHAVEEVA P, POON L C, et al.Meta-analysis of second-trimester markers for trisomy 21[J].Ultrasound Obset Gynecol, 2013, 41(3): 247-261.
[3] BENACERRAF B R. The role of the second trimester genetic sonogram in screening for fetal Down syndrome[J]. Semin Perinatol, 2005, 29(6): 386-394.
[4] SOUTER V L, NYBERG D A, BENN P A, et al. Correlation of second-trimester sonographic and biochemical markers[J]. J Ultrasound Med, 2004, 23(4): 505-511.
[5] MAYMON R, LEVINSOHN-TAVOR O, Cuckle H, et al. Second trimester ultrasound prenasal thickness combined with nasal bone length: a new method of Down syndrome screening[J]. Prenat Diagn, 2005, 25(10): 906-911.
[6] PERSICO N, BORENSTEIN M, MOLINA F, et al. Prenasal thickness in trisomy-21 fetuses at 16-24 weeks of gestation[J]. Ultrasound Obstet Gynecol, 2008, 32(6): 751-754.
[7] OZCAN T, ALLEN J, PETERSON J, et al. Prenatal prediction of Down syndrome using prenasal thickness on second trimester ultrasound[J]. Eur J Obstet Gynecol Reprod Biol, 2013, 171(2): 220-224.
[8] MAYMON R, MOSKOVITCH M, LEVINSOHN-TAVOR O, et al. Bedside estimation of Down syndrome risk from second-trimester ultrasound prenasal thickness[J]. Ultrasound Obstet Gynecol, 2009, 34(6): 629-633.
[9] VON KAISENBERG C S, KRENN V, LUDWIG M, et al. Morphological classification of nuchal skin in human fetuses with trisomy 21, 18, and 13 at 12-18 weeks and in a trisomy 16 mouse[J]. Anat Embryol, 1998, 197(2): 105-124.
[10] VON KAISENBERG C S, BRAND-SABERI B, CHRIST B, et al. Collagen type VI gene expression in the skin of trisomy 21 fetuses[J]. Obstet Gynecol, 1998, 91(3): 319-323.
[11] WEILL D, MATTEI M G, PASSAGE E, et al. Cloning and chromosomal localization of human genes encoding the three chains of typeVI collagen[J]. Am J Hum Genet, 1988, 42(3): 435-455.
[12] NICOLAIDES K H, SPENCER K, AVGIDOU K, et al. Multicenter study of first-trimester screening for trisomy 21 in 75821 pregnancies: results and estimation of the potential impact of individual risk-orientated two-stage first-trimester screening[J]. Ultrasound Obstet Gynecol, 2005,25(3): 221-226.