Chen Xu, Chang Ying, Cui Hong-yan, Ren Chen-Chun, Yu Bing-ying
Department of Obstetrics, Tianjin Center Hospital of Obstetrics and Gynecology, Tianjin 300100, China. Email:
Department of Obstetrics, Tianjin Center Hospital of Obstetrics and Gynecology, Tianjin 300100, China.
Zhonghua Fu Chan Ke Za Zhi. 2013 Nov;48(11):815-8.
To evaluate the efficiency of combined screening for chromosomal abnormalities in the first trimester and the ultrasound characteristics of these fetuses.
Retrospective study for 5000 singleton pregnancies by combined screening of trisomies 21, 18, 13 and Turner syndrome.Risk algorithms were developed for calculation of patient-specific risks for each of the three trisomies based on maternal age, fetal nuchal translucency, free β human chorionic gonadotropin and serum pregnancy associated plasma protein A at 11 to 13(+6) weeks of pregnant. The value of nuchal translucency (NT) and β-hCG and pregnancy-associated plasma protein A (PAPP-A) level were inputted computer, and calculate the risk value ( ≥ 1: 270) by automatic analysis software. Two hundred and four cases with high risk were performed transabdominal chorionic villus biopsy to detect the fetal chromosomal karyotypes. Meanwhile, other ultrasonic characteristics of fetal were elevated.
(1) Five thousand cases of pregnant women were detected, including 4983 normal cases, 62 cases were induced labor for a variety of reasons in the second trimester, including 40 cases with normal karyotype but with congenital heart disease, 17 cases of chromosome abnormalities (9 cases trisomy 21, 2 cases trisomy 18, 1 cases trisomy 13, 4 cases 45X), 2 cases spina bifida, 2 cases digestive tract obstruction, 1 cases giant bladder.One case with low risk of fetal chromosomal abnormalities in combined screening, but high risk of age (maternal age were over 40 years old), it was 21 trisomy syndrome after the prenatal diagnosis.(2) Five cases of nasal bone loss in 9 cases of trisomy 21 (5/9), 5 cases with three tricuspid regurgitation (5/9), 4 cases of venous ductus a wave flow reverse (4/9), 3 cases of fetal nasal bone loss accompanied by tricuspid regurgitation and venous ductus a wave flow reverse (3/9).One case of nasal bone loss in 2 cases of trisomy 18, 2 cases were tricuspid regurgitation and venous ductus a wave flow reverse. Two cases in 4 cases of 45X had venous ductus a wave flow reverse. There were 8 cases (0.16%) nasal bone absence in 4983 cases of normal karyotype fetus, 48 cases (0.96%) of tricuspid regurgitation and 44 cases (0.88%) of venous ductus a wave flow reverse. Thirty-two cases in 40 cases (80%) of fetal congenital heart disease were tricuspid regurgitation, 30 cases of venous ductus a wave flow reverse (75%).Eight cases of nasal bone absence normal karyotype fetus were found the nasal bone at 20 weeks gestation.
Combination screening of nuchal translucency with serum markers in the first trimester were high detection rate and low false positive rate; a wave reversion and fetal nasal bone absence accompanied by tricuspid regurgitation can improve the detection rate of abnormal karyotype; abnormalities ultrasound marker may be associated with fetal congenital heart disease at 11-13(+6) weeks of pregnancy.
评估孕早期染色体异常联合筛查的效率以及这些胎儿的超声特征。
对5000例单胎妊娠进行回顾性研究，采用21 -三体、18 -三体、13 -三体和特纳综合征联合筛查。基于孕妇年龄、胎儿颈部透明带厚度、游离β-人绒毛膜促性腺激素以及孕11至13⁺⁶周时的血清妊娠相关血浆蛋白A，开发风险算法以计算三种三体综合征各自的个体特异性风险。将颈部透明带厚度（NT）值、β-人绒毛膜促性腺激素（β-hCG）和妊娠相关血浆蛋白A（PAPP-A）水平输入计算机，通过自动分析软件计算风险值（≥1:270）。对204例高风险病例进行经腹绒毛取样以检测胎儿染色体核型。同时，观察胎儿的其他超声特征。
（1）共检测5000例孕妇，其中4983例正常，62例在孕中期因各种原因引产，包括40例核型正常但有先天性心脏病，17例染色体异常（9例21 -三体，2例18 -三体，1例13 -三体，4例45,X），2例脊柱裂，2例消化道梗阻，1例巨大膀胱。1例联合筛查胎儿染色体异常风险低但年龄风险高（孕妇年龄超过40岁），产前诊断为21 -三体综合征。（2）9例21 -三体中有5例鼻骨缺失（5/9），5例三尖瓣反流（5/9），4例静脉导管a波血流逆转（4/9），3例胎儿鼻骨缺失伴三尖瓣反流和静脉导管a波血流逆转（3/9）。2例18 -三体中有1例鼻骨缺失，2例有三尖瓣反流和静脉导管a波血流逆转。4例45,X中有2例有静脉导管a波血流逆转。4983例核型正常胎儿中有8例（0.16%）鼻骨缺失，48例（0.96%）三尖瓣反流，44例（0.88%）静脉导管a波血流逆转。40例胎儿先天性心脏病中有32例（80%）为三尖瓣反流，30例（75%）有静脉导管a波血流逆转。8例核型正常胎儿鼻骨缺失者在孕20周时发现有鼻骨。
孕早期颈部透明带与血清标志物联合筛查检出率高、假阳性率低；a波逆转及胎儿鼻骨缺失伴三尖瓣反流可提高异常核型检出率；孕11至13⁺⁶周超声异常标志物可能与胎儿先天性心脏病有关。
