Title: Blood Oxygen Test Finds Heart Defects in Newborns
Category: Health News
Created: 8/22/2011 11:00:00 AM
Last Editorial Review: 8/22/2011 12:00:00 AM

Leveraging genetic mapping, scientists pinpointed a gene on human chromosome 21 named Dyrk1a. In the mouse model of medlinkDown syndrome/medlink,

Pregnant women living within 16 km of unconventional gas wells in Colorado, US, are up to 30% more likely to give birth to a baby with a heart defect, new research has found. These findings suggest that more research is needed to understand the potential health impact of natural gas developments, say the researchers.

Risk of preterm birth (PTB) has been noted to be higher for newborns with congenital heart defects (CHDs). The role of associated anomalies, whether PTB is spontaneous or medically induced, or specific categories of CHDs have not been elucidated.

By using population-based data, we found that PTB associated with CHDs was due to spontaneous PTB. Associated anomalies accounted for a small part of this increase, and there were specific associations between categories of CHDs and PTB. (Read the full article)

The etiology of congenital heart defects (CHDs) is largely unknown. A few studies have suggested that maternal emotional stress around the time of conception may be related to the occurrence of CHDs.

Using a large registry-based data source from Denmark, we found that prenatal exposure to maternal bereavement, as a marker of severe stress exposure, may increase the prevalence of CHDs in offspring. (Read the full article)

Pulse oximetry testing in newborns can detect asymptomatic cases of critical congenital heart defects and has been added to the US Recommended Uniform Screening Panel. However, the impact that earlier diagnosis may have on survival in this population is unclear.

One-year survival for infants with critical congenital heart defects has been improving over time, yet mortality remains high. Survival has been greatest for those diagnosed after 1 day of age and may increase more with screening using pulse oximetry. (Read the full article)

Prenatal diagnosis and clinical examination do not identify all infants with critical congenital heart defects before hospital discharge. To improve early critical congenital heart defect detection, New Jersey was the first state to implement legislatively mandated newborn pulse oximetry screening.

This report is the first to evaluate statewide pulse oximetry screening implementation. New Jersey had a high statewide screening rate and identified 3 infants with previously unsuspected critical congenital heart defects that otherwise might have resulted in significant morbidity and mortality. (Read the full article)

Delayed diagnosis of critical congenital heart defects (CCHDs) is associated with increased morbidity and mortality.

Despite increasing prenatal diagnosis rates, delayed diagnosis of CCHDs continues to occur, with rates highest among isolated cases and those delivered at nontertiary care hospitals. Better understanding of delayed diagnosis could help to improve screening efforts. (Read the full article)

Poor neurocognitive outcomes are associated with some types of congenital heart defects (CHDs). Guidelines for developmental screening for children with CHDs have been published. Population-based information on special education services needed among children with CHDs is limited.

Children in metropolitan Atlanta with congenital heart defects (CHDs) received special education services more often than children without birth defects. These findings highlight the need for special education services and the importance of developmental screening for all children with CHDs. (Read the full article)

Genetic variants are the primary driver of congenital heart disease (CHD) pathogenesis. However, our ability to identify causative variants is limited. To identify causal CHD genes that are associated with specific molecular functions, the study used prior knowledge to filter de novo variants from 2,881 probands with sporadic severe CHD. This approach enabled the authors to identify an association between left ventricular outflow tract obstruction lesions and genes associated with the WAVE2 complex and regulation of small GTPase-mediated signal transduction. Using CRISPR zebrafish knockdowns, the study confirmed that WAVE2 complex proteins brk1, nckap1, and wasf2 and the regulators of small GTPase signaling cul3a and racgap1 are critical to cardiac development.