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

Abstract

Objective: To evaluate the pregnancy outcomes of fetuses with congenital heart disease (CHD) after chromosome microarray (CMA)-based prenatal diagnosis.Method: Amniocentesis was performed in 1035 pregnant women carrying fetuses with CHD between September 2014 and December 2019. Chromosomal aberrations in fetuses with CHD were evaluated using CMA. The pregnancy outcomes were followed up from 6 months to 5 years. Results:The overall CHD detection rate by CMA was 10.1% (105/1035; 50 fetuses: aneuploidy, 55 fetuses: pathogenic or likely pathogenic copy number variations).Among 1003 fetuses who were followed up, 4, 236, 763, and 18 cases were of miscarriages, pregnancy termination, live births, and postnatal deaths, respectively. Self-healed CHD was observed in 401 (52.6%) fetuses. The pregnancy termination rate of fetuses with chromosomal anomalies was significantly higher than that of fetuses without chromosomal anomalies (93.1% vs. 15.5%, p < 0.001). However, other pregnancy outcomes, including mortality, preterm labor, and low-weight birth rate, were similar between the two groups. Conclusion:The outcome of CMA is an important factor influencing parents' choice of whether to continue the pregnancy. Self-healing rate of prenatal diagnosed CHD is high. The mortality and morbidity of fetuses with CHD following prenatal CMA testing are relatively low. Key pointsWhat's already known about this topic?� Chromosomal microarray analysis (CMA) is a reliable and high-resolution technology and should be used as a first-tier test for the prenatal diagnosis of congenital heart disease (CHD) in clinical practice. What does this study add?� The mortality and morbidity of fetuses with CHD following prenatal CMA testing are relatively low.� Self-healing rate of prenatally diagnosed CHD, especially minor CHD, is high.

Prenatal Utility of Chromosomal Microarray Analysis and Pregnancy Outcomes ： A Cohort Study of 4211 Pregnancies

“…For structural anomalies of multiple systems, the probability of carrying pathogenic CNVs increased to 9.1% 21 . The most common organ systems associated with abnormal CMA results are the heart, kidney, bone, genitourinary system and central nervous system [7][8][9][10],and our research results agree with these views. Among the 1379 fetuses with ultrasound structural abnormalities, the overall detection rate of pathogenic CNV with multiple system abnormalities was 7.41%.…”

“…The incidence of pathogenic CNV in the fetus with abnormal ultrasound can be further re ned by the organ system involved and the number of abnormalities observed. The most common organ systems related to abnormal CMA results are the heart, bone, genitourinary system and central nervous system 7,8,9,10 . However, little is known about the incidence of clinically signi cant CNV in fetuses with structural abnormalities of the anatomical systems or ultrasound soft marker abnormalities.…”

Association between parental decisions regarding abortion and severity of fetal heart disease

“…To assess the impact of FHD severity on the decision, we defined two types of “severe” diseases based on previous reports 11 – 16 , utilizing established classifications. Cases were categorized as “complex” FHD based on the ACHD anatomical and physiological classification, which is widely used in the ACHD guidelines (e.g., double outlet right ventricle, IAA, TGA, functionally single ventricle, or mitral atresia) 38 – 40 .…”

Untargeted metabolomics analysis of differences in metabolite levels in congenital heart disease of varying severity

“…CHD is characterized by various phenotypes, for example, ventricular septal defect (VSD), atrial septal defect (ASD), tetralogy of Fallot(TOF), persistent truncus arteriosus and double outlet right ventricle DORV [1,2]. CHD may cause miscarriage, premature delivery, low birth weight, or death [3].…”