Prenatal Detection of Congenital Heart Diseases Using Echocardiography: 12-Year Results of an Improving Program With 9782 Cases

Abstract

Background: A provincial program combining the effect of a government investment in prenatal screening and a specialized cardiac center was introduced in 2004, to improve prenatal diagnosis by echocardiography for congenital heart diseases (CHDs) in the Guangdong Registry of Congenital Heart Disease, China.

Objectives: To evaluate the effects of this program on the prenatal diagnosis rate (PDR) by echocardiography and termination of pregnancy (TOP).

Methods: A retrospective study from 2004-2015 included 9782 fetuses and infants diagnosed with CHDs. The PDR was calculated for major and minor CHDs during pre-, mid- and post-program time-intervals. Multivariable logistic regression was utilized to analyze the associations between program implementation and the timing of CHD diagnosis (prenatal vs. postnatal) by different hospital levels. The rate for TOP were also evaluated.

Results: The PDR increased by 44% for major CHDs in the post-program interval relative to the pre-program interval. The three most frequently diagnosed subtypes prenatally were hypoplastic left heart syndrome (84%), double outlet right ventricle (83%) and severe pulmonary stenosis (82%). Participants with a high school education experienced a greater increase in PDR than those without a high school education. The odds for a prenatal vs. a postnatal diagnosis for major CHD were greater after introduction of the program than before (adjusted odd ratio= 20.95, 95% CI:2.47, 178.06 in secondary hospitals; and adjusted odd ratio=11.65, 95% CI:6.52, 20.81 in tertiary hospitals). The TOP rate decreased from 52.3% pre-program to 19.6% post-program among minor CHD fetuses with a prenatal diagnosis (P for trend =0.041). A lower proportion of TOP were attributed to minor CHDs after the program.

Conclusions: The program combining the advantages of government investment and a specialized cardiac center appeared to increase the PDR by echocardiography for CHDs in an unselected population. The TOP rate among minor cases with prenatal diagnosis declined significantly after implementation of the program.

Keywords: birth defects; congenital disease; echocardiography; prenatal diagnosis; program; termination of pregnancy.

Figure 1

Trend for prenatal diagnosis rates for congenital heart diseases during pre-, mid- and post-program time intervals, by major and minor severity. CHD, congenital heart disease.

Figure 2

Timing of prenatal and postnatal diagnosis for major congenital heart defects. DORV Double Outlet Right Ventricle, HLHS Hypoplastic Left Heart Syndrome, PA Pulmonary Atresia, PDR Prenatal Detection Rate, PS Pulmonary Stenosis, TA Tricuspid Atresia, TAPVR Total Anomalous Pulmonary Venous Return, TGA D-Transposition of the Great Arteries, ToF Tetralogy of Fallot.

Figure 3

Multivariate logistic regression analysis for different time-interval associated with the prenatal diagnosis for major congenital heart diseases stratified by different hospital levels, 2004–2015. The multivariable models in different hospital stratification was adjusted by maternal age (>35 yrs and ≤ 35 yrs), domestic migrant population (yes/no), maternal education (more than high school/completion of high school/less than high school), total previous live births (0/1/≥2), family history of CHD (yes/no), maternal diabetes (yes/no), maternal hypertension (yes/no), infant sex (female/male), extra-cardiac/aneuploidy/genetic syndrome (yes/no), and fetus with suspected cardiac abnormality on basic obstetric ultrasound (yes/no). OR, Odds Ratio; CI, confidence interval.

Figure 4

The distribution of the indicators for termination of a pregnancy with a prenatal congenital heart disease diagnosis. BD, birth defect; CHD, congenital heart disease; PDR, prenatal detection rate; TOP, termination of pregnancy.