The Value of Increasing Nuchal Translucency in Diagnosis of Congenital Heart Disease in Fetus_Chinese Journal of Evidence-Based Medicine

Authors：

 TANGYing ,  YANGTai-zhu , ZHUQi , LUOHong

Department of Ultrasound, West China Second University Hospital, Sichuan University, Chengdu 610041, China;

Corresponding author：

YANGTai-zhu, Email: ytaizhu@sina.com

Keywords：

Ultrasound; Fetus; Nuchal translucency; Cardiac defects; Screening; Diagnostic test

DOI：

10.7507/1672-2531.20150063

Video：

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Objective To evaluate the performance of nuchal translucency (NT) measurement in the first trimester of pregnancy as a marker for congenital heart defects (CHD). Methods From January 2010 to December 2012, middle-low risk pregnant women were prospectively evaluated at the Department of Ultrasound in West China Second Hospital of Sichuan University about Nuchal translucency and echocardiography. Results NT measurements was performed in 2 443 women from 2 764 pregnancy women, and a total of 2 125 case could be used in data analysis. NT measurement >2.5 mm was found in 68 fetuses, and 11 cases were diagnosed as CHD (prevalence 5.2/1 000). The sensitivity and specificity of NT measurement >2.5 mm for CHD were 45.5% and 87%, respectively. Conclusion Increasing nuchal translucency might increase the risk of CHD in fetuses, and could be used as a method to diagnosis CHD.

Citation： TANGYing, YANGTai-zhu, ZHUQi, LUOHong. The Value of Increasing Nuchal Translucency in Diagnosis of Congenital Heart Disease in Fetus. Chinese Journal of Evidence-Based Medicine, 2015, 15(4): 373-376. doi: 10.7507/1672-2531.20150063 Copy

1.	Boneva RS, Botto LD, Moore CA, et al. Mortality associated with congenital heart defects in the United States:trends and racial disparities. 1979-1997 Circulation, 2001, 103(19):2376-2381.
2.	Nicolaides KH. The 11-13⁺⁶ weeks scan. Fetal Med Foun-dation, 2004, 1(18):71-88.
3.	唐英, 刘关键, 杨太珠. 孕早期超声筛查胎儿结构畸形的循证病案讨论. 中国循证医学杂志, 2009, 9(6):705-708.
4.	Souka AP, Krampl E, Bakalis S, et al. Outcome of pregnancy in chromosomally normal fetuses with increased nuchal translucency in the first trimester. Ultrasound Obstet Gynecol, 2001, 18(1):9-17.
5.	McAuliffe FM, Hornberger LK, Winsor S, et al. Fetal cardiac defects and increased nuchal translucency thickness:a prospective study. Am J Obstet Gynecol, 2004, 191(4):1486-1490.
6.	Lopes LM, Brizot ML, Lopes MAB, et al. Structural and functional cardiac abnormalities identified prior to 16 weeks' gestation in fetuses with increased nuchal translucency. Ultrasound Obstet Gynecol, 2003, 22(5):470-478.
7.	Schwarzler P, Carvalho JS, Senat MV, et al. Screening for fetal aneuploidies and fetal cardiac abnormalities by nuchal translucency thickness measurement at 10-14 weeks of gestation as part of routine antenatal care in an unselected population. Br Obstet Gynaecol, 106(10):1029-1034.
8.	Hyett J, Perdu M, Sharland G, et al. Using fetal nuchal translucency to screen for major congenital cardiac defects at 10-14 weeks of gestation:population based cohort study. BMJ, 1999, 318(7176):81-85.
9.	Nicolaides KH, Azar G, Snijders RJ, et al. Fetal nuchalo edema:associated malformations and chromosomal defects. Fetal Diagn Ther, 1992, 7(2):123-131.
10.	Pandya PP, Snijders RJ, Johnson SP, et al. Screening for fetal trisomies by maternal age and fetal nuchal translucency thickness at 10 to 14 weeks of gestation. Br J Obstet Gynaecol, 1995, 102(12):957-962.
11.	Berger A.. Science commentary:What is fetal nuchal translucency? BMJ, 1999, 318(7176):85.
12.	Atzei A, Gajewska K, Huggon IC, et al. Relationship between nuchal translucency thickness and prevalence of major cardiac defects in fetuses with normal karyotype. Ultrasound Obstet Gynecol, 2005, 26(2):154-157.
13.	Makrydimas G, Sotiriadis A, Ioannidis JP. Screening performance of first-trimester nuchal translucency for major cardiac defects:a meta-analysis. Am Obstet Gynecol, 2003, 189(5):1330-1335.
14.	Muller1 M, Clur S, Timmerman1, et al. Nuchal translucency measurement and congenital heart defects:modest association in low-risk pregnancies. Prenat Diagn, 2007, 27(2):164-169.
15.	Simpson LL, Malone FD, Bianchi DW, et al. Nuchal translucency and the risk of congenital heart disease. Obstet Gynecol, 2007, 109(2Pt 1):376-383.
16.	Wald NJ, Morris JK, Walker K, et al. Prenatal screening for serious congenital heart defects using nuchal translucency:a meta-analysis. Prenat Diagn, 2008, 28(12):1094-1104.
17.	Chasen ST, Skupski DW, McCullough LB, et al. Prenatal informed consent for sonogram:the time for first-trimester nuchal translucency has come. Ultrasound Med, 2001, 20(11):1147-1152.
18.	Yagel S, Cohen SM, Messing B. First trimester fetal heart screening. Curr Opin Obstet Gynecol, 2007, 19(2):183-190.
19.	Bronshtein M, Zimmer EZ, Blazer S. The utility of detailed first trimester ultrasound examination in abnormal fetal nuchal translucency. Prenat Diagn, 2008, 28(11):1037-1041.
20.	Lee W, Allan L, Carvalho JS, et al. ISUOG consensus statement:what constitutes a fetal echocardiogram? Ultrasound Obstet Gynecol, 2008, 32(2):239-242.

1. Boneva RS, Botto LD, Moore CA, et al. Mortality associated with congenital heart defects in the United States:trends and racial disparities. 1979-1997 Circulation, 2001, 103(19):2376-2381.
2. Nicolaides KH. The 11-13⁺⁶ weeks scan. Fetal Med Foun-dation, 2004, 1(18):71-88.
3. 唐英, 刘关键, 杨太珠. 孕早期超声筛查胎儿结构畸形的循证病案讨论. 中国循证医学杂志, 2009, 9(6):705-708.
4. Souka AP, Krampl E, Bakalis S, et al. Outcome of pregnancy in chromosomally normal fetuses with increased nuchal translucency in the first trimester. Ultrasound Obstet Gynecol, 2001, 18(1):9-17.
5. McAuliffe FM, Hornberger LK, Winsor S, et al. Fetal cardiac defects and increased nuchal translucency thickness:a prospective study. Am J Obstet Gynecol, 2004, 191(4):1486-1490.
6. Lopes LM, Brizot ML, Lopes MAB, et al. Structural and functional cardiac abnormalities identified prior to 16 weeks' gestation in fetuses with increased nuchal translucency. Ultrasound Obstet Gynecol, 2003, 22(5):470-478.
7. Schwarzler P, Carvalho JS, Senat MV, et al. Screening for fetal aneuploidies and fetal cardiac abnormalities by nuchal translucency thickness measurement at 10-14 weeks of gestation as part of routine antenatal care in an unselected population. Br Obstet Gynaecol, 106(10):1029-1034.
8. Hyett J, Perdu M, Sharland G, et al. Using fetal nuchal translucency to screen for major congenital cardiac defects at 10-14 weeks of gestation:population based cohort study. BMJ, 1999, 318(7176):81-85.
9. Nicolaides KH, Azar G, Snijders RJ, et al. Fetal nuchalo edema:associated malformations and chromosomal defects. Fetal Diagn Ther, 1992, 7(2):123-131.
10. Pandya PP, Snijders RJ, Johnson SP, et al. Screening for fetal trisomies by maternal age and fetal nuchal translucency thickness at 10 to 14 weeks of gestation. Br J Obstet Gynaecol, 1995, 102(12):957-962.
11. Berger A.. Science commentary:What is fetal nuchal translucency? BMJ, 1999, 318(7176):85.
12. Atzei A, Gajewska K, Huggon IC, et al. Relationship between nuchal translucency thickness and prevalence of major cardiac defects in fetuses with normal karyotype. Ultrasound Obstet Gynecol, 2005, 26(2):154-157.
13. Makrydimas G, Sotiriadis A, Ioannidis JP. Screening performance of first-trimester nuchal translucency for major cardiac defects:a meta-analysis. Am Obstet Gynecol, 2003, 189(5):1330-1335.
14. Muller1 M, Clur S, Timmerman1, et al. Nuchal translucency measurement and congenital heart defects:modest association in low-risk pregnancies. Prenat Diagn, 2007, 27(2):164-169.
15. Simpson LL, Malone FD, Bianchi DW, et al. Nuchal translucency and the risk of congenital heart disease. Obstet Gynecol, 2007, 109(2Pt 1):376-383.
16. Wald NJ, Morris JK, Walker K, et al. Prenatal screening for serious congenital heart defects using nuchal translucency:a meta-analysis. Prenat Diagn, 2008, 28(12):1094-1104.
17. Chasen ST, Skupski DW, McCullough LB, et al. Prenatal informed consent for sonogram:the time for first-trimester nuchal translucency has come. Ultrasound Med, 2001, 20(11):1147-1152.
18. Yagel S, Cohen SM, Messing B. First trimester fetal heart screening. Curr Opin Obstet Gynecol, 2007, 19(2):183-190.
19. Bronshtein M, Zimmer EZ, Blazer S. The utility of detailed first trimester ultrasound examination in abnormal fetal nuchal translucency. Prenat Diagn, 2008, 28(11):1037-1041.
20. Lee W, Allan L, Carvalho JS, et al. ISUOG consensus statement:what constitutes a fetal echocardiogram? Ultrasound Obstet Gynecol, 2008, 32(2):239-242.

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The Value of Increasing Nuchal Translucency in Diagnosis of Congenital Heart Disease in Fetus

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