Prenatal diagnosis of nonsyndromic congenital heart defects
ABSTRACT 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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ABSTRACT: The purpose of this analysis was to assess preoperative risk factors before the first-stage Norwood procedure in infants with hypoplastic left heart syndrome and related single-ventricle lesions and to evaluate practice patterns in prenatal diagnosis, as well as the role of prenatal diagnosis in outcome. Data from all live births with morphologic single right ventricle and systemic outflow obstruction screened for the Pediatric Heart Network's Single Ventricle Reconstruction Trial were used to investigate prenatal diagnosis and preoperative risk factors. Demographics, gestational age, prenatal diagnosis status, presence of major extracardiac congenital abnormalities, and preoperative mortality rates were recorded. Of 906 infants, 677 (75%) had prenatal diagnosis, 15% were preterm (<37 weeks' gestation), and 16% were low birth weight (<2500 g). Rates of prenatal diagnosis varied by study site (59% to 85%, P < .0001). Major extracardiac congenital abnormalities were less prevalent in those born after prenatal diagnosis (6% vs 10%, P = .03). There were 26 (3%) deaths before Norwood palliation; preoperative mortality did not differ by prenatal diagnosis status (P = .49). In multiple logistic regression models, preterm birth (P = .02), major extracardiac congenital abnormalities (P < .0001), and obstructed pulmonary venous return (P = .02) were independently associated with preoperative mortality. Prenatal diagnosis occurred in 75%. Preoperative death was independently associated with preterm birth, obstructed pulmonary venous return, and major extracardiac congenital abnormalities. Adjusted for gestational age and the presence of obstructed pulmonary venous return, the estimated odds of preoperative mortality were 10 times greater for subjects with a major extracardiac congenital abnormality.The Journal of thoracic and cardiovascular surgery 12/2010; 140(6):1245-50. DOI:10.1016/j.jtcvs.2010.05.022 · 3.99 Impact Factor
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ABSTRACT: The aims of this study were to ascertain the effect of a regional training program in fetal echocardiography for obstetric radiographers on the antenatal detection of major congenital heart disease (CHD) and to document short-term outcomes for major CHD. All 87 obstetric radiographers in Northern Ireland were invited to attend 2.5 days of training during a 1-year period. Data were collected before and after the training, over a 5-year study period, to assess the effect of training on the antenatal detection of CHD in the population. The antenatal detection of major CHD rose significantly, from 28% (72/262) pretraining to 43% (36/84) in the year of training (P = 0.008). Antenatal diagnosis of four-chamber-view defects rose significantly (from 38% to 54%; P = 0.04), as did detection of outflow-tract-view defects (from 8% to 21%; P = 0.05). Twelve per cent (13/108) of cases died spontaneously in utero and 8% (9/108) were terminated. Only 78% (67/86) of live-born cases in which CHD had been diagnosed antenatally survived the neonatal period, compared to 93% (221/238) with a postnatal diagnosis of CHD (P < 0.001). Even with a relatively simple training program, significant improvements can be made in the antenatal detection of CHD. With training, obstetric sonographers can successfully assess outflow tracts. Antenatally diagnosed cases have more complex CHD and this probably contributes to poor neonatal survival.Ultrasound in Obstetrics and Gynecology 09/2010; 36(3):279-84. DOI:10.1002/uog.7616 · 3.14 Impact Factor
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ABSTRACT: Previous reports suggest that mortality resulting from congenital heart disease (CHD) among infants and young children has been decreasing. There is little population-based information on CHD mortality trends and patterns among older children and adults. We used data from death certificates filed in the United States from 1999 to 2006 to calculate annual CHD mortality by age at death, race-ethnicity, and sex. To calculate mortality rates for individuals ≥1 year of age, population counts from the US Census were used in the denominator; for infant mortality, live birth counts were used. From 1999 to 2006, there were 41,494 CHD-related deaths and 27,960 deaths resulting from CHD (age-standardized mortality rates, 1.78 and 1.20 per 100,000, respectively). During this period, mortality resulting from CHD declined 24.1% overall. Mortality resulting from CHD significantly declined among all race-ethnicities studied. However, disparities persisted; overall and among infants, mortality resulting from CHD was consistently higher among non-Hispanic blacks compared with non-Hispanic whites. Infant mortality accounted for 48.1% of all mortality resulting from CHD; among those who survived the first year of life, 76.1% of deaths occurred during adulthood (≥18 years of age). CHD mortality continued to decline among both children and adults; however, differences between race-ethnicities persisted. A large proportion of CHD-related mortality occurred during infancy, although significant CHD mortality occurred during adulthood, indicating the need for adult CHD specialty management.Circulation 11/2010; 122(22):2254-63. DOI:10.1161/CIRCULATIONAHA.110.947002 · 14.95 Impact Factor