Yang Yandong, Zhang Yongliang
Department of Fetal Medicine, the First Affiliated Hospital of Jinan University, Guangzhou 510630, China. Email:
Department of Fetal Medicine, the First Affiliated Hospital of Jinan University, Guangzhou 510630, China.
Zhonghua Fu Chan Ke Za Zhi. 2014 Mar;49(3):188-92.
To evaluate the detection rate of congenital heart defect (CHD) during the first trimester screening for chromosomal abnormalities, the role of ultrasound soft markers including increased nuchal translucency (NT), tricuspid regurgitation (TR) and abnormal ductus venosus (DV) flow in the screening for cardiac anomalies was also investigated.
From January 2009 to January 2012, 4 673 fetuses were scanned at 11-14 weeks at Department of Fetal Medicine, the First Affiliated Hospital of Jinan University. The ultrasound findings and follow up outcomes were recorded, False-positive rate of different first-trimester ultrasound markers for the detection of CHD was calculated, sensitivity of the markers for all major CHD was calculated as well.
There was a significant association between major CHD and first trimester ultrasound markers. (1) Overall findings:among the 4 673 fetuses, 31 fetuses were diagnosed CHD prenatally, 17, 12 and 2 of which were detected in the first, second and third trimester, respectively. In 22 of the 31 CHD cases, invasive procedure was performed, fetal karyotype was abnormal in 12 cases, including triosmy 21 (5 cases), trisomy 18 (2 cases), trisomy 13 (2 cases), Turner syndrome (2 cases) and pericentric inversion of chromosome 9 (1 cases). (2) NT measurement and prenatal detected CHD: in 4 673 cases, NT measurement between 95(th)-99(th) percentile were present in 206 (4.41%) , 5 cases were diagnosed CHD prenatally, in 4 of 5 cases were detected in first trimester; NT measurement <95(th) percentile were present in 4 430 (94.80%) , 16 cases were diagnosed CHD prenatally, in 5 of 16 cases were detected in first trimester; NT measurement>99(th) percentile (>3.5 mm) were present in 37 (0.79%, 37/4 673) , 10 cases were diagnosed CHD prenatally, in 8 of 10 cases were detected in first trimester. (3) TR and inverted a-wave at the DV and prenatal detected CHD: among 4 673 cases, TR or inverted a-wave at the DV were present in 51 (1.09%) , 98 (2.10%) respectively. TR was present in 8 of 31 CHD cases, inverted a-wave at the DV was present in 7 of 31 CHD cases. (4) Sensitivity of different first trimester ultrasound markers for detection of major CHD cases:in 31 CHD cases diagnosed prenatally, 23 cased were defined as major CHD. Sensitivity of at least one of the ultrasound markers, NT measurement between 95(th)-99(th) percentile, >99(th) percentile( >3.5 mm), TR or inverted a-wave at the DV for detection of major CHD cases was 74% (17/23), 22% (5/23), 39% (9/23), 35% (8/23), 30% (7/23) , respectively. (5) Specificity of different first trimester ultrasound markers for detection of CHD cases:specificity of NT measurement between 95(th)-99(th) percentile, >99(th) percentile (>3.5 mm), TR or inverted a-wave at the DV for detection of major CHD cases was 4.30% (201/4 673),0.58% (27/4 673),0.92% (43/4 673), 1.94% (91/4 673).
Routine first trimester soft markers for chromosomal abnormalities screening combined with cardiac assessment can detect quite a number of major heart defects. Increased NT, TR and abnormal DV flow can be important indicators for echocardiography, which is favorable to early prenatal diagnosis of CHD.
评估孕早期染色体异常筛查中先天性心脏病（CHD）的检出率，同时研究超声软指标包括颈项透明层（NT）增厚、三尖瓣反流（TR）及静脉导管（DV）血流异常在心脏畸形筛查中的作用。
2009年1月至2012年1月，暨南大学附属第一医院胎儿医学科对4673例孕11 - 14周的胎儿进行超声检查。记录超声检查结果及随访结局，计算孕早期不同超声指标检测CHD的假阳性率，以及各指标对所有主要CHD的敏感度。
主要CHD与孕早期超声指标之间存在显著关联。（1）总体结果：4673例胎儿中，31例产前诊断为CHD，其中17例、12例和2例分别在孕早期、孕中期和孕晚期被检出。31例CHD病例中，22例行侵入性检查，12例胎儿染色体核型异常，包括21 - 三体（5例）、18 - 三体（2例）、13 - 三体（2例）、特纳综合征（2例）及9号染色体臂间倒位（1例）。（2）NT测量与产前诊断CHD：4673例中，NT测量值处于第95 - 99百分位数的有206例（4.41%），5例产前诊断为CHD，其中4例在孕早期被检出；NT测量值<第95百分位数的有4430例（94.80%），16例产前诊断为CHD，其中5例在孕早期被检出；NT测量值>第99百分位数（>3.5 mm）的有37例（0.79%，37/4673），10例产前诊断为CHD，其中8例在孕早期被检出。（3）TR及DV a波倒置与产前诊断CHD：4673例中，TR或DV a波倒置分别有51例（1.09%）、98例（2.10%）。31例CHD病例中，8例有TR，7例有DV a波倒置。（4）孕早期不同超声指标检测主要CHD病例的敏感度：31例产前诊断为CHD的病例中，23例为主要CHD。NT测量值处于第95 - 99百分位数、>第99百分位数（>3.5 mm）、TR或DV a波倒置中至少一项指标检测主要CHD病例的敏感度分别为74%（17/23）、22%（5/23）、39%（9/23）、35%（8/23）、30%（7/23）。（5）孕早期不同超声指标检测CHD病例的特异度：NT测量值处于第95 - 99百分位数、>第99百分位数（>3.5 mm）、TR或DV a波倒置检测主要CHD病例的特异度分别为4.30%（201/4673）、0.58%（27/4673）、0.92%（43/4673）、1.94%（91/4673）。
孕早期染色体异常筛查的常规软指标联合心脏评估可检测出相当数量的主要心脏缺陷。NT增厚、TR及DV血流异常可为超声心动图检查的重要指标，有利于CHD的早期产前诊断。
