Elevated first-trimester nuchal translucency increases the risk of congenital heart defects
ABSTRACT We sought to evaluate the association between first trimester nuchal translucency measurement and the risk for major congenital heart defect in chromosomally normal fetuses.
First trimester (10 weeks 4 days of gestation to 13 weeks 6 days of gestation) nuchal translucency was obtained in a large prospective multicenter National Institute of Child Health and Human Development study for Down syndrome prediction. The study, which was conducted between May 1998 and December 2000, was restricted to singleton pregnancies. Gestational age was determined by crown rump length measurements. Perinatal outcomes were determined and included the frequency of major congenital heart defect, which was defined as those cases that potentially could require surgery, intensive medical therapy, or prolonged follow-up time. Logistic regression analysis was used to determine whether nuchal translucency was a significant predictor of congenital heart defect.
There were 8167 chromosomally normal pregnancies, of which 21 cases of major congenital heart defect were identified at follow-up examination (incidence, 2.6/1000 pregnancies). The risk of congenital heart defect rose with increasing nuchal translucency measurements. The mean nuchal translucency value for the normal and congenital heart defect groups were 1.5 mm and 1.9 mm, respectively (P = .05). With a nuchal translucency measurement of < 2.0 mm, the incidence of congenital heart defect was 13 of 6757 pregnancies (1.9 of every 1000 pregnancies). At 2.0 to 2.4 mm, the incidence was 5 of 1032 pregnancies (4.8 of every 1000 pregnancies). At 2.5 to 3.4 mm, the incidence was 2 of 335 pregnancies (6.0 of every 1000 pregnancies). At > or = 3.5 mm, the incidence was 1 of 43 pregnancies (23 of every 1000 pregnancies). Logistic regression analysis confirmed that nuchal translucency was associated significantly with congenital heart defect (odds ratio, 2.1; 95% CI, 1.4-3.1; P = .0004).
Increased first trimester nuchal translucency measurement was associated with a higher risk of major congenital heart defect in chromosomally normal pregnancies. The practical implications of our findings are that patients with unexplained elevations of nuchal translucency may need referral for a fetal echocardiogram.
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ABSTRACT: The articles collected together in this issue describe first-trimester screening for a variety of complications. With the advance of both technology and research, early pregnancy screening is becoming ever more sophisticated and complex. While there are clear benefits to most women receiving early reassurance that their baby is developing as expected, there is no evidence to suggest that an earlier prenatal diagnosis has less long-term emotional impact than at later gestations. The poignancy of ultrasound images for many parents means that it can be especially difficult to manage the anxiety when an ultrasound marker is highlighted as potential cause for concern. They can then face a journey of anxiety-laden uncertainty, which can extend through much of the pregnancy, and even beyond. Professionals involved in screening need to recognise and acknowledge such adverse side-effects and develop the skills necessary to help parents understand and cope with the uncertainties inherent in the process.Prenatal Diagnosis 01/2011; 31(1):46-9. DOI:10.1002/pd.2687 · 2.51 Impact Factor
Chapter: Prenatal aneuploidy screeningEncyclopedia of Genetics, Genomics, Proteomics and Bioinformatics, 04/2005; , ISBN: 9780470011539
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ABSTRACT: The purpose of this study was to evaluate the detection rate of early fetal echocardiography and the in utero development of congenital heart defects (CHD). Cases were selected from all singleton pregnancies between 1997 and 2003 in which detailed fetal 2-dimensional and color-coded Doppler echocardiography was performed in our prenatal unit between 11 weeks' and 13 weeks 6 days' gestation; 2165 cases with complete outcome parameters were analyzed. During this study period, CHD were diagnosed in 46 fetuses. Between 11 and 13 weeks' gestation, 29 CHD were diagnosed (11 weeks, 9 cases; 12 weeks, 8 cases; and 13 weeks, 12 cases); 9 CHD were found in the second trimester and 2 in the third trimester. The in utero detection rate of fetal echocardiography was 86.96% (n = 40). Six additional CHD (13.04%) were detected postnatally. The spectrum of detected CHD changed with advancing gestational age and was different from the postnatal detected heart defects. Early fetal echocardiography is feasible and allows the detection of most CHD. Congenital heart defects vary in appearance at different stages of pregnancy and may evolve in utero with advancing gestational age. Therefore, early fetal echocardiography should always be followed by echocardiography at mid gestation.Journal of ultrasound in medicine: official journal of the American Institute of Ultrasound in Medicine 03/2006; 25(2):187-96. · 1.53 Impact Factor