Ultrasound soft markers and fetal cardiac structural assessment at 11-14 weeks / 中华妇产科杂志

ABSTRACT

Objective 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.Methods 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.Results 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 CHDin 4 673 cases,NT measurement between 95th-99th 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 ＜ 95th 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 ＞ 99th 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 CHDamong 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 casesin 31 CHD cases diagnosed prenatally,23 eased were defined as major CHD.Sensitivity of at least one of the ultrasound narkers,NT measurement between 95th-99th percentile,＞ 99th percentile(＞ 3.5 mm),TR or inverted a-wave at the DV for detection of major CHD eases 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 casesspecificity of NT measurement between 95th-99th percentile,＞ 99th 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).Conclusions 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.