Prenatal diagnosis of nonsyndromic congenital heart defects
National Center on Birth Defects and Developmental Disabilities, CDC, Atlanta, Georgia, USA Prenatal Diagnosis
(Impact Factor: 3.27).
03/2014; 34(3). DOI: 10.1002/pd.4282
Congenital heart defects (CHDs) occur in nearly 1% of live births. We sought to assess factors associated with prenatal CHD diagnosis in the National Birth Defects Prevention Study (NBDPS).
We analyzed data from mothers with CHD-affected pregnancies from 1998-2005. Prenatal CHD diagnosis was defined as affirmative responses to questions about abnormal prenatal ultrasounds and/or fetal echocardiography obtained during a structured telephone interview.
Fifteen percent (1,097/7,299) of women with CHD-affected pregnancies (excluding recognized syndromes and single-gene disorders) reported receiving a prenatal CHD diagnosis. Prenatal CHD diagnosis was positively associated with advanced maternal age, family history of CHD, type 1 or type 2 diabetes, twin or higher order gestation, CHD complexity and presence of extracardiac defects. Prenatal CHD diagnosis was inversely associated with maternal Hispanic race/ethnicity, prepregnancy overweight or obesity, and pre-existing hypertension. Prenatal CHD diagnosis varied by time to NBDPS interview and NBDPS study site.
Further work is warranted to identify reasons for the observed variability in maternal reports of prenatal CHD diagnosis and the extent to which differences in health literacy or health system factors such as access to specialized prenatal care and/or fetal echocardiography may account for such variability. This article is protected by copyright. All rights reserved.
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To document detection of fetal congenital heart disease (CHD) in relation to (i) indication for referral, (ii) chromosomal and (iii) extracardiac abnormalities METHOD: All fetal echocardiograms performed in our institution from 2007-2011 were reviewed retrospectively. Indication for referral, cardiac diagnosis based on the World Health Organization ICD-10 criteria and the presence of chromosomal and extracardiac defects were recorded.
Of 1,262 echocardiograms, 287 (22.7%) had CHD. Abnormal anatomy scan in pregnancies originally considered to be at low risk of CHD was the best indicator for detecting CHD (91.2% of positive cardiac diagnoses), compared to other indications of family history (5.6%) or maternal medical disorder (3.1%). Congenital anomalies of the cardiac septa comprised the largest category (n=89), within which atriovetricular septal defects were the most common anomaly (n=36). Invasive antenatal testing was performed for 126 of 287 cases, of which 44% (n=55) had a chromosomal abnormality. Of 232 fetuses without chromosomal abnormalities, 31% had an extracardiac defect (n=76).
Most CHD occurs in pregnancies regarded to be at low-risk, highlighting the importance of a routine mid-trimester fetal anatomy scan. Frequent association of fetal CHD and chromosomal and extracardiac pathology emphasise the importance of thorough evaluation of any fetus with CHD. © 2015 John Wiley & Sons, Ltd
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ABSTRACT: Case-control studies of birth defects might be subject to selection bias when there is incomplete ascertainment of cases among pregnancies that are terminated after a prenatal diagnosis of the defect. We propose a simple method to estimate inverse probability of selection weights (IPSWs) for cases ascertained from both pregnancies that end in termination and those that do not end in termination using data directly available from the National Birth Defects Prevention Study and other published information. The IPSWs can then be used to adjust for selection bias analytically. We can also allow for uncertainty in the selection probabilities through probabilistic bias analysis. We provide an illustrative example using data from National Birth Defects Prevention Study (1997-2009) to examine the association between prepregnancy obesity (body mass index, measured as weight in kilograms divided by height in meters squared, of ≥30 vs. <30) and spina bifida. The unadjusted odds ratio for the association between prepregnancy obesity and spina bifida was 1.48 (95% confidence interval: 1.26, 1.73), and the simple selection bias-adjusted odds ratio was 1.26 (95% confidence interval: 1.04, 1.53). The probabilistic bias analysis resulted in a median adjusted odds ratio of 1.22 (95% simulation interval: 0.97, 1.47). The proposed method provides a quantitative estimate of the IPSWs and the bias introduced by incomplete ascertainment of cases among terminated pregnancies conditional on a set of assumptions.
Published by Oxford University Press on behalf of the Johns Hopkins Bloomberg School of Public Health 2015. This work is written by (a) US Government employee(s) and is in the public domain in the US.
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ABSTRACT: In 2011, statewide newborn screening programs for critical congenital heart defects began in the United States, and subsequently screening has been implemented widely. In this review, we focus on data reports and collection efforts related to both prenatal diagnosis and newborn screening. Defect-specific, maternal, and geographic factors are associated with variations in prenatal detection, so newborn screening provides a population-wide safety net for early diagnosis. A new web-based repository is collecting information on newborn screening program policies, quality indicators related to screening programs, and specific case-level data on infants with these defects. Birth defects surveillance programs also collect data about critical congenital heart defects, particularly related to diagnostic timing, mortality, and services. Individuals from state programs, federal agencies, and national organizations will be interested in these data to further refine algorithms for screening in normal newborn nurseries, neonatal intensive care settings, and other special populations; and ultimately to evaluate the impact of screening on outcomes.
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