Introduction
The early prenatal diagnosis of congenital heart disease (CHD) is crucial, empowering expectant mothers to effectively plan for their pregnancy and the subsequent delivery. However, a comprehensive understanding of how various sociodemographic and fetal factors impact the timeliness of prenatal care in diagnosing CHD has remained somewhat limited. A recent study delved into this critical area, aiming to evaluate the influence of both maternal and fetal characteristics on the timing of prenatal CHD diagnosis, and further explore the resultant fetal and postnatal outcomes.
Methods and Findings
This extensive retrospective study encompassed multiple medical centers and included women whose fetuses received a CHD diagnosis via echocardiography between 2010 and 2019. To assess social vulnerability, the researchers categorized women into quartiles based on the 2014 Social Vulnerability Index (SVI) from the Centers for Disease Control and Prevention, ranging from quartile 1 (lowest vulnerability) to quartile 4 (highest vulnerability). A fetal disease severity score, ranging from 1 to 7, was also developed, incorporating the severity of CHD and the presence of prenatally diagnosed genetic abnormalities, non-cardiac abnormalities, and fetal hydrops. A diagnosis made after 24 weeks of gestation was defined as a late diagnosis. The study employed both univariate and multivariable regression analyses to pinpoint factors associated with late diagnosis, termination of pregnancy (TOP), postnatal death, discrepancies between prenatal and postnatal CHD diagnosis and severity, and factors linked to postnatal death or heart transplant among liveborn infants.
The research encompassed 441 pregnancies, revealing that 94 (21%) were diagnosed with CHD late in pregnancy. Notably, late diagnosis was significantly more prevalent in the most socially vulnerable quartile, with 38% of women in this group receiving a diagnosis after 24 weeks, compared to 14-18% in the other quartiles. Associations were also found between late diagnosis and specific religious affiliations, namely Catholic or other Christian religions compared to non-denominational or other religious beliefs, as well as lower fetal disease severity scores. Termination of pregnancy occurred in 93 cases (21%), and there were 26 (6%) instances of fetal demise in utero. Early diagnosis and greater fetal disease severity were identified as factors associated with TOP. Interestingly, the most socially vulnerable quartile exhibited a higher incidence of fetal demise in utero but a lower incidence of TOP compared to other quartiles. Among the 322 live births, 49 infants (15%) either died or underwent heart transplantation during the follow-up period (ranging from 0 to 16 months). Factors linked to postnatal death or heart transplant included a longer duration between the initial obstetric ultrasound suspicion of CHD and the confirmatory fetal echocardiogram, as well as greater fetal disease severity.
Conclusion and Implications
The study’s findings underscore that high social vulnerability, Catholic or other Christian religious affiliation, and lower fetal disease severity are associated with a late prenatal CHD diagnosis. Furthermore, delays in CHD diagnosis correlate with fewer terminations of pregnancy and poorer postnatal outcomes. These results emphasize the critical need to expedite fetal echocardiography referrals following abnormal obstetric screenings, particularly for women identified as being at higher risk, such as those with elevated Social Vulnerability Index scores. Such proactive measures hold significant potential to positively influence both pregnancy and postnatal outcomes for infants diagnosed with CHD prenatally. Improving access to timely Prenatal Care Diagnosis is therefore paramount, especially for vulnerable populations, to optimize outcomes in pregnancies complicated by congenital heart disease.
