Objective-To determine an accurate estimate of the prevalence of congenital heart defects (CHD) using current standard diagnostic modalities.Study design-We obtained data on infants with CHD delivered during 1998-2005 identified by the Metropolitan Atlanta Congenital Defects Program, an active, population-based birth defects surveillance system. Physiologic shunts in infancy and shunts associated with prematurity were excluded. Selected infant and maternal characteristics of the cases were compared with those of the overall birth cohort.Results-From 1998-2005 there were 398 140 births, of which 3240 infants had CHD, for an overall prevalence of 81.4/10 000 births. The most common CHD were muscular ventricular septal defect, perimembranous ventricular septal defect, and secundum atrial septal defect, with prevalence of 27.5, 10.6, and 10.3/10 000 births, respectively. The prevalence of tetralogy of Fallot, the most common cyanotic CHD, was twice that of transposition of the great arteries (4.7 vs. 2.3/10 000 births). Many common CHD were associated with older maternal age and multiple-gestation pregnancy; several were found to vary by sex.Conclusion-This study, using a standardized cardiac nomenclature and classification, provides current prevalence estimates of the various CHD subtypes. These estimates can be used to assess variations in prevalence across populations, time or space. Keywordscongenital heart defects; cardiovascular malformations; surveillance; prevalence Congenital heart defects (CHD) are the leading cause of infant mortality associated with birth defects (1) and can result in chronic disability, morbidity, and increased health-care costs (2, 3). It is therefore important to derive population-based estimates of the prevalence of CHD.Correspondence: Mark Reller MD, Division of Pediatric Cardiology, CDRC-P, Oregon Health & Science University, 707 SW Gaines Rd, Portland, Oregon, 97239, rellerm@ohsu.edu, Office: (503) 494-2192, Fax: (503) 494-2824. Publisher's Disclaimer: This is a PDF file of an unedited manuscript that has been accepted for publication. As a service to our customers we are providing this early version of the manuscript. The manuscript will undergo copyediting, typesetting, and review of the resulting proof before it is published in its final citable form. Please note that during the production process errors may be discovered which could affect the content, and all legal disclaimers that apply to the journal pertain. NIH Public Access NIH-PA Author ManuscriptNIH-PA Author Manuscript NIH-PA Author ManuscriptMost CHD prevalence estimates are based on data from population-based birth defects surveillance systems; a review by Hoffman and Kaplan (4) reported the inter-quartile range of prevalence estimates across 44 international studies for the common forms of CHD. For all types of CHD combined, the inter-quartile range was 60 to 105 CHD per 10 000 births (4). Routine utilization of echocardiography has significantly enhanced the ability to diagnose CHD, including minor abnorm...

PGDM was associated with a wide range of birth defects; GDM was associated with a limited group of birth defects.

Background Using the National Birth Defects Prevention Network (NBDPN) annual data report, U.S. national prevalence estimates for major birth defects are developed based on birth cohort 2010–2014. Methods Data from 39 U.S. population‐based birth defects surveillance programs (16 active case‐finding, 10 passive case‐finding with case confirmation, and 13 passive without case confirmation) were used to calculate pooled prevalence estimates for major defects by case‐finding approach. Fourteen active case‐finding programs including at least live birth and stillbirth pregnancy outcomes monitoring approximately one million births annually were used to develop national prevalence estimates, adjusted for maternal race/ethnicity (for all conditions examined) and maternal age (trisomies and gastroschisis). These calculations used a similar methodology to the previous estimates to examine changes over time. Results The adjusted national birth prevalence estimates per 10,000 live births ranged from 0.62 for interrupted aortic arch to 16.87 for clubfoot, and 19.93 for the 12 critical congenital heart defects combined. While the birth prevalence of most birth defects studied remained relatively stable over 15 years, an increasing prevalence was observed for gastroschisis and Down syndrome. Additionally, the prevalence for atrioventricular septal defect, tetralogy of Fallot, omphalocele, and trisomy 18 increased in this period compared to the previous periods. Active case‐finding programs generally had higher prevalence rates for most defects examined, most notably for anencephaly, anophthalmia/microphthalmia, trisomy 13, and trisomy 18. Conclusion National estimates of birth defects prevalence provide data for monitoring trends and understanding the impact of these conditions. Increasing prevalence rates observed for selected conditions warrant further examination.