Prenatal diagnosis and pregnancy outcomes of 1492 fetuses with congenital heart disease: role of multidisciplinary-joint consultation in prenatal diagnosis

Abstract

Early diagnosis of congenital heart disease (CHD) can improve the prognosis of neonates with CHD. We retrospectively evaluated the value of prenatal diagnosis of CHD by comparing the pregnancy outcomes. Prenatal diagnosis of CHD was established by echocardiographic evaluation of fetal heart. Amniotic fluid and/or cord blood genetic examination, pathological anatomy, casting specimen, and/ or multidisciplinary-joint consultation (MDJC) were performed. A total of 1492 fetuses with CHD were diagnosed by prenatal echocardiography from 67834 pregnant women. There were 445, 236, 583, and 228 cases in groups A (simple CHD), B (simple CHD plus extra-cardiac abnormality), C (complex CHD), and D (complex CHD plus extra-cardiac abnormality), respectively. The pregnancy continuation rate in the four groups was 98.67%, 85.71%, 67.65%, and 36.84%, respectively (P < 0.001). The pregnancy termination rate for fetal CHD with extra-cardiac abnormalities was significantly higher than that for fetuses with only CHD (81.24% vs. 53.6%, P < 0.05). Prenatal genetic test revealed chromosomal abnormalities in 20.43% of fetuses with CHD. MDJC significantly decreased the pregnancy termination rate. In 88 cases, the original decision to terminate the pregnancy was changed after consultation and the pregnancy was continued. Of these, 87 cases culminated in live births; 65 of these children had better prognosis. Nine-segment sequential segment analysis method for prenatal fetal echocardiography was compared with the results of pathological anatomy, cast specimen, postoperative diagnosis, and postnatal ultrasound. The accuracy of prenatal ultrasound for diagnosis of fetal complex CHD and fetal simple CHD was 90.5-91.66% and 98.6%, respectively. Prenatal ultrasound is still the most effective method for fetal CHD diagnosis. According to the "China Birth Defect Prevention Report (2012)" 1 , congenital heart disease (CHD) is the most common type of birth defect in China accounting for 26.7% of all birth defects in 2011. More than 130,000 new cases of CHD are reported each year in China. Globally, a total of 48.9 million cases of CHD were reported in 2015 2. The reported incidence of CHD varies from 4 to 75 per 1,000 live births depending upon the method of diagnosis. About 0.6 to 1.9% of live born infants with CHD have moderate to severe disease 3. CHD is the leading cause of birth defect-related deaths 4. In 2015, an estimated 303,300 infants died around the world due to CHD 5 .

Pregnancy outcomes of fetuses with congenital heart disease after a prenatal diagnosis with chromosome microarray

“…However, the difference was not significant. These results are quite different from the pregnancy outcomes described in two studies 25,26 that consistently found that the postnatal outcome of cases with pathogenic variants was significantly worse than that of those with normal results. Moreover, the total mortality in this study (2.4%) was even lower than that of cases without pathogenic variants described in the previous study (9.0%).…”

“…The pregnancy outcomes were similar between the cases with isolated CHD and those with non-isolated CHD, except for pregnancy termination, which is consistent with a recent report by Qiu et al 26 The mortality, preterm labor, and low-weight birth rates of the cases with aneuploidy and pathogenic or likely pathogenic CNVs were higher than those of the cases with no, benign, or likely benign CNVs. However, the difference was not significant.…”

Chinese Parents’ Perceptions, Attitudes, and Treatment-Seeking Intentions Toward Congenital Heart Disease with Charitable Assistance: A Cross-Sectional Study in a Congenital Heart Center in Southern China

“…Most unterminated pregnant fetuses need further interventional or surgical treatment. 17 , 18 However, in some Chinese regions and other impoverished areas, due to the relatively backward economy and education, limited distribution of medical resources, lack of standardized prenatal screening, or inferior technology, the prevalence of CHD remains high. 19 In addition, as a result of economic backwardness, most children do not receive medical treatment in time.…”

Fatores relacionados à mortalidade infantil por anomalias congênitas, Paraná, Brasil 2010-2019

“…No que tange as características da gestação e do parto, as mulheres que tiveram número de consultas de pré-natal inadequado apresentaram maior chance de que seus filhos com anomalias congênitas morressem. Pesquisas concordam que os diagnósticos precoces realizados durante a assistência pré-natal, assim como as consultas multiprofissionais, contribuem para a redução da mortalidade por anomalias congênitas críticas (Combs et al, 2020;Qiu et al, 2020).…”

“…Em relação ao tipo de gravidez, o presente estudo apresenta que a gravidez múltipla proporciona maior chance de mortalidade por anomalias congênitas. O que vai ao encontro de uma pesquisa realizada na cidade de Maringá, Paraná, Brasil, que identificou como fatores de risco para a mortalidade neonatal, entre mulheres com gestação de alto risco, a gestação múltipla na gestação atual (Qiu et al, 2020).…”