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: Objective: Nuchal translucency (NT) thickness is one of the major screening markers during the first trimester that could be influenced by several factors. Here, we investigated the association between NT thickness and thyroid related hormones. Methods: NT thickness was measured with transabdominal ultrasound in 643 pregnant women between 11 and 13 weeks of gestation. Maternal thyroxine (T4), free thyroxine (fT4) and thyroid-stimulating hormone (TSH) were evaluated. Bivariate correlations were assessed and thyroid profile was subcategorized with regard to the calculated reference ranges. Results: An inverse relation was found between serum levels of maternal T4 with NT thickness (r = −0.128, p = 0.001) and CRL (r = −0.168, p Conclusion: Thyroid function tests are found to independently influence NT measurements in the first trimester. Assessment of hormones such as thyroxine could optimize the interpretation of screening tests for pathological conditions during pregnancy.Journal of Maternal-Fetal and Neonatal Medicine 10/2013; 26(16). DOI:10.3109/14767058.2013.784259 · 1.21 Impact Factor
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ABSTRACT: Fetal scanning is one of the most common applications of ultrasound imaging and serves as a source of vital information about maternal and fetal health. Visualization of clinically relevant structures, however, can be severely compromised in difficult-to-image patients due to poor resolution and the presence of high levels of acoustical noise or clutter. We have developed novel coherence-based beamforming methods called Short-Lag Spatial Coherence (SLSC) imaging and Harmonic Spatial Coherence imaging (HSCI), and applied them to suppress the effects of clutter in fetal imaging. This method is used to create images of the spatial coherence of the backscattered ultrasound as opposed to images of echo magnitude. We present the results of a patient study to assess the benefits of coherence-based beamforming in the context of first trimester fetal exams. Matched fundamental B-mode, SLSC, harmonic B-mode, and HSCI images were generated using raw radio frequency data collected on 11 volunteers in the first trimester of pregnancy. The images were compared for qualitative differences in image texture and target conspicuity as well as using quantitative imaging metrics such as signal-to-noise ratio (SNR), contrast-to-noise ratio (CNR), and contrast. SLSC and HSCI showed statistically significant improvements across all imaging metrics compared with B-mode and harmonic B-mode, respectively. These improvements were greatest for poor quality B-mode images where contrast of anechoic targets was improved from 15 dB in fundamental B-mode to 27 dB in SLSC and 17 dB in harmonic B-mode to 30 dB in HSCI. CNR improved from 1.4 to 2.5 in the fundamental images and 1.4 to 3.1 in the harmonic case. These results exhibit the potential of coherence-based beamforming to improve image quality and target detectability, especially in high noise environments.Ultrasonic Imaging 08/2014; 37(2). DOI:10.1177/0161734614547281 · 1.16 Impact Factor
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ABSTRACT: Congenital heart defects(CHDs), the most commonly occurring congenital malformations, cause significant mortality and morbidity. With the recognition of early markers for CHD and the development of better ultrasound resolution, interest has turned towards performing a screening anomaly scan, including the heart, together with the nuchal scan. It is also possible, with adequate skill and training, to competently perform an echocardiogram <16 weeks' gestation. This article reviews the detection of major CHD in the first- and early second-trimester including specific markers that help to identify high-risk groups for early fetal echocardiography(EFEC).CHD detection during first-trimester screening is low (2.3-56%) depending on the center's experience and the population studied. An increased nuchal translucency, abnormal ductus venosus flow and tricuspid regurgitation in the first-trimester are associated with an increased CHD risk and can be used together to identify high-risk fetuses for EFEC. EFEC requires skilled scanning and the expertise of a fetal echocardiographer. In high-risk populations it is 78.5% sensitive with a 74.5% concordance between the EFEC and the mid-gestational echocardiogram. The availability of qualified personnel and diagnostic accuracy are pre-requisites before EFEC can be introduced into management protocols. The limitations of EFEC should be recognized and a later confirmatory echocardiogram is recommended. This article is protected by copyright. All rights reserved.Prenatal Diagnosis 12/2014; 34(13). DOI:10.1002/pd.4466 · 2.51 Impact Factor