Potential impact of population screening for prenatal diagnosis of congenital heart disease.

Abstract

The potential impact of prenatal screening for the detection of congenital heart disease (CHD) was assessed by prospective analysis of 428 consecutive infant admissions to a supraregional centre; 28 (6X50/) did not have CHD and were excluded from analysis. Of the 400 cases with CDH, 396 (99%P/) underwent fetal ultrasonography but scanning was performed only before 18 weeks' gestation in 200 (50%). One hundred and forty nine (37%) of all cardiac abnormalities and 149/283 (53%) of severe abnormalities were considered to be detectable prenatally in a screening echocardiographic four chamber view had this technique been used. Prenatal diagnosis of severe CHD actually occurred in only eight (2%) cases and was after 30 weeks' gestation in all. There were 181/347 (52%) of all mothers and 177/253 (70%) of the subgroup with severe abnormalities who expressed an opinion volunteered their preference for termination of pregnancy if mid-trimester diagnosis had been available.Mid-trimester detection of congenital heart disease rarely occurs at present despite fetal ultrasound scanning in almost all pregnancies. More than half of all severe congenital heart defects seen in infancy are potentially detectable by screening. Major training at primary scan level and modification of the timing of existing fetal anomaly scanning would be required for a screening programme to be effective.

A comparative study of routine versus selective fetal anomaly ultrasound scanning

“…The dominance of fetal cardiac abnormalities within our false negative group is in agreement with a previous study which found that prenatal diagnosis of congenital cardiac abnormality had occurred in only 2% of babies admitted to a supraregional paediatric cardiology unit, and then always in the third trimester. 17 Similarly, another study found that the sensitivity of routine antenatal ultrasound was low (14.3%) for detecting congenital heart disease in the low risk population. 15 Some sonographic signs associated with other structural abnormalities only develop late in pregnancy-for example, limb shortening in achondroplasia or some cases of ventriculomegaly, and may give rise to a false negative second trimester fetal anomaly ultrasound scan.…”

Detection of Transposition of the Great Arteries in Fetuses Reduces Neonatal Morbidity and Mortality

“…6,7 Controversies have emerged about the impact of prenatal diagnosis on the prevalence of congenital anomalies at birth in well-defined populations. 8,9 In addition, the advantages of prenatal detection of cardiac anomalies in low-risk populations have not been clearly demonstrated. 3 However, when specific congenital heart defects are detected, diagnosis in the fetus may have dramatic consequences.…”

Diagnosis, Natural History, and Outcome of Fetal Heart Disease

“…Although the most common reason for referral in the majority of practices is for a family history of congenital heart disease and maternal metabolic disease, the reason for referral that results in the highest yield of fetal cardiac pathology by far is a suspected cardiovascular abnormality on a routine fetal anatomic screen, typically performed in the midtrimester. 27 The second reason most likely to yield fetal cardiac abnormalities is the presence of an extracardiac abnormality in the fetus. Given this experience, efforts to improve screening of primarily low-risk pregnancies in general obstetrical and radiology practices are critical for the development of a successful fetal cardiac program.…”