Regulatory elements in (7q21.3) locus contribute to genetic control of coronal nonsyndromic craniosynostosis and bone density-related traits.

Purpose: The etiopathogenesis of coronal nonsyndromic craniosynostosis (cNCS), a congenital condition defined by premature fusion of 1 or both coronal sutures, remains largely unknown.

Methods: We conducted the largest genome-wide association study of cNCS followed by replication, fine mapping, and functional validation of the most significant region using zebrafish animal model.

Results: Genome-wide association study identified 6 independent genome-wide-significant risk alleles, 4 on chromosome 7q21.

Maternal Exposure to Tap Water Disinfection By-Products and Risk of Selected Congenital Heart Defects.

Background: The use of chlorine to treat drinking water produces disinfection by-products (DBPs), which have been associated with congenital heart defects (CHDs) in some studies.

Methods: Using National Birth Defects Prevention Study data, we linked geocoded residential addresses to public water supply measurement data for DBPs. Self-reported water consumption and filtration methods were used to estimate maternal ingestion of DBPs.

Gastroschisis prevalence patterns in 27 surveillance programs from 24 countries, International Clearinghouse for Birth Defects Surveillance and Research, 1980-2017.

Background: Gastroschisis is a serious birth defect with midgut prolapse into the amniotic cavity. The objectives of this study were to evaluate the prevalence and time trends of gastroschisis among programs in the International Clearinghouse for Birth Defects Surveillance and Research (ICBDSR), focusing on regional variations and maternal age changes in the population.

Methods: We analyzed data on births from 1980 to 2017 from 27 ICBDSR member programs, representing 24 countries and three regions (Europe , Latin America, North America).

Is gastroschisis associated with county-level socio-environmental quality during pregnancy?

Background: Gastroschisis prevalence more than doubled between 1995 and 2012. While there are individual-level risk factors (e.g.

Neighborhood Deprivation and Neural Tube Defects.

Background: Individual measures of socioeconomic status (SES) have been associated with an increased risk of neural tube defects (NTDs); however, the association between neighborhood SES and NTD risk is unknown. Using data from the National Birth Defects Prevention Study (NBDPS) from 1997 to 2011, we investigated the association between measures of census tract SES and NTD risk.

Methods: The study population included 10,028 controls and 1829 NTD cases.

Are individual-level risk factors for gastroschisis modified by neighborhood-level socioeconomic factors?

Background: Two strong risk factors for gastroschisis are young maternal age (<20 years) and low/normal pre-pregnancy body mass index (BMI), yet the reasons remain unknown. We explored whether neighborhood-level socioeconomic position (nSEP) during pregnancy modified these associations.

Methods: We analyzed data from 1269 gastroschisis cases and 10,217 controls in the National Birth Defects Prevention Study (1997-2011).

Neighborhood-level Socioeconomic Position During Early Pregnancy and Risk of Gastroschisis.

Background: Neighborhood-level socioeconomic position has been shown to influence birth outcomes, including selected birth defects. This study examines the un derstudied association between neighborhood-level socioeconomic position during early pregnancy and the risk of gastroschisis, an abdominal birth defect of increasing prevalence.

Methods: We conducted a case-control study of 1,269 gastroschisis cases and 10,217 controls using data from the National Birth Defects Prevention Study (1997-2011).

Exome-wide assessment of isolated biliary atresia: A report from the National Birth Defects Prevention Study using child-parent trios and a case-control design to identify novel rare variants.

The etiology of biliary atresia (BA) is unknown, but recent studies suggest a role for rare protein-altering variants (PAVs). Exome sequencing data from the National Birth Defects Prevention Study on 54 child-parent trios, one child-mother duo, and 1513 parents of children with other birth defects were analyzed. Most (91%) cases were isolated BA.

Society for Birth Defects Research and Prevention 2022-2027 strategic plan.

Background: The sixth Strategic Planning Session of the Society for Birth Defects Research and Prevention (BDRP) was held on April 24-25, 2022, in Alexandria, VA.

Methods: This effort built upon previous strategic planning sessions, conducted every 5 years.

Results: The overall process was designed to identify BDRP's vision, purpose, culture, and potential, as well as to communicate the value that BDRP brings to its members, volunteers, partners, and the greater community.

Parents' report on the health care management of spina bifida in early childhood.

Purpose: This study aimed to describe health care use by type of health providers and care settings visited by children with spina bifida (SB) and to compare this use between children with and without a shunt.

Methods: Health care use data were extracted from a larger study on the health and functioning of children with SB aged 3-6 years. The present study focused on the medical information subsection of a parent-reported survey related to SB care, general care, specialty care (e.

Prepregnancy exposure to dietary arsenic and congenital heart defects.

Introduction: Arsenic crosses the placenta and accumulates in fetal tissues. In the United States, diet is the predominant route of arsenic exposure, but epidemiologic data are sparse regarding this exposure and development of birth defects. Using data from a large case-control study, we explored associations between maternal dietary arsenic exposure and congenital heart defects (CHDs), the most prevalent birth defects.

Health Care Usage Among Adolescents With Congenital Heart Defects at 5 Sites in the United States, 2011 to 2013.

Background We sought to characterize health care usage for adolescents with congenital heart defects (CHDs) using population-based multisite surveillance data. Methods and Results Adolescents aged 11 to 18 years with ≥1 CHD-related diagnosis code and residing in 5 US sites were identified in clinical and administrative data sources for the years 2011 to 2013. Sites linked data on all inpatient, emergency department (ED), and outpatient visits.

Interaction of maternal medication use with ambient heat exposure on congenital heart defects in the National Birth Defects Prevention Study.

Background: Maternal exposure to weather-related extreme heat events (EHEs) has been associated with congenital heart defects (CHDs) in offspring. Certain medications may affect an individual's physiologic responses to EHEs. We evaluated whether thermoregulation-related medications modified associations between maternal EHE exposure and CHDs.

Exome sequencing identifies genetic variants in anophthalmia and microphthalmia.

Anophthalmia and microphthalmia (A/M) are rare birth defects affecting up to 2 per 10,000 live births. These conditions are manifested by the absence of an eye or reduced eye volumes within the orbit leading to vision loss. Although clinical case series suggest a strong genetic component in A/M, few systematic investigations have been conducted on potential genetic contributions owing to low population prevalence.

Exome sequencing identifies variants in infants with sacral agenesis.

Background: Sacral agenesis (SA) consists of partial or complete absence of the caudal end of the spine and often presents with additional birth defects. Several studies have examined gene variants for syndromic forms of SA, but only one has examined exomes of children with non-syndromic SA.

Methods: Using buccal cell specimens from families of children with non-syndromic SA, exomes of 28 child-parent trios (eight with and 20 without a maternal diagnosis of pregestational diabetes) and two child-father duos (neither with diagnosis of maternal pregestational diabetes) were exome sequenced.

Factors associated with maternal consent for use of residual newborn bloodspots in the National Birth Defects Prevention Study.

Purpose: We investigated factors associated with maternal consent to use residual newborn dried bloodspots (DBS) in a national case-control study of birth defects.

Methods: A subset of sites in the National Birth Defects Prevention Study (NBDPS; 1997-2011) asked participants to provide consent for investigators to retrieve DBS from local newborn screening programs to use for research on risk factors for birth defects. We assessed whether consent differed by factors including maternal age, education, parity, body mass index, language of interview, country of birth, and case-control status.

Evaluation of effects of continued corticosteroid treatment on cardiac and pulmonary function in non-ambulatory males with Duchenne muscular dystrophy from MD STARnet.

Introduction/aims: Corticosteroids have been shown to improve muscle strength and delay loss of ambulation (LOA) in Duchenne muscular dystrophy (DMD) and are considered standard of care despite significant side-effects. The objective of this study is to evaluate whether corticosteroid treatment after LOA is beneficial for cardiac or pulmonary functions among boys with DMD.

Methods: We used the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet) to characterize associations between corticosteroid use and onset of abnormal left ventricular (LV) function or abnormal percent predicted forced vital capacity (ppFVC) among 398 non-ambulatory boys with DMD.

Modeling complex effects of exposure to particulate matter and extreme heat during pregnancy on congenital heart defects: A U.S. population-based case-control study in the National Birth Defects Prevention Study.

Background/objective: Research suggests gestational exposure to particulate matter ≤2.5 μm (PM) and extreme heat may independently increase risk of birth defects. We investigated whether duration of gestational extreme heat exposure modifies associations between PM exposure and specific congenital heart defects (CHDs).

Site, frequency, and duration of pain in young children with spina bifida.

Purpose: To investigate the: (1) percent of children with spina bifida (SB) complaining of pain, (2) frequency, duration, and cause of pain by sex, level of lesion type of SB, and ambulation status, (3) body sites reported to hurt, by variables in objective 2, and (4) associations between physical and mental/emotional health between caregiver and child.

Methods: Cross-sectional study of 101 caregivers of children (3 to 6 years old) with SB. Survey data and information from medical records were included.