Prenatally diagnosed isolated perimembranous ventricular septal defect: Genetic and clinical implications

Abstract

Objective To evaluate the incidence of chromosomal aberrations and the clinical outcomes following the prenatal diagnosis of isolated perimembranous ventricular septal defect (pVSD). Methods This retrospective study was composed of a cohort of pregnant women whose fetuses were diagnosed with isolated pVSD. Complete examinations of the fetal heart were performed, as well as a postnatal validation echocardiography follow‐up at 1 year of age. The collected data included: spontaneous closure of the pVSD, need for intervention, chromosomal aberrations and postnatal outcome. Results Fifty‐five pregnant women were included in the study. 34/55 (61.8%) of the fetuses underwent prenatal genetic workup which revealed no abnormal results. No dysmorphic features or abnormal neurological findings were detected postnatally in those who declined a prenatal genetic workup during the follow‐up period of 2 years. In 25/55 of the cases (45.4%), the ventricular septal defects (VSD) closed spontaneously in utero, whereas in 17 cases of this group (30.9%) the VSD closed during the first year of life. None of the large 3 VSDs cases (>3 mm), closed spontaneously. Conclusion Prenatally isolated perimembranous VSD has a favorable clinical outcome when classified as small‐to‐moderate size, children in our cohort born with such findings had no macroscopic chromosomal abnormalities.

Should prenatal chromosomal microarray analysis be offered for isolated ventricular septal defect? A single-center retrospective study from China

“…In our series, the intrauterine natural closure rate of muscular VSDs was 40.0%, with that of perimembranous defects at 15.4%. Although previous studies reported that 27.3–54.1% of all prenatally detected perimembranous VSDs closed spontaneously in utero , these studies consisted of smaller cohorts ( 9 , 12 , 22 , 30 ). As reported in the literature, this high incidence of spontaneous closure of muscular VSD can be seen as a normal process of delayed, underlying physiological development, rather than an abnormality ( 34 ).…”

“…Remarkably, results varied widely, with reported detection rates of pathogenic CNVs ranging from 1.2 to 6.9%, including VSDs with differing definitions of “isolated” ( 16 – 21 ). In addition, subgroup analyses of different types of VSDs, the most typical structural abnormalities detected in the prenatal setting, are rarely reported ( 22 , 23 ). Therefore, the possible association between isolated VSD and the risk of chromosomal abnormalities, and whether the prenatal invasive procedure should be granted access to pregnant women when an isolated VSD has been detected in the prenatal setting, remains controversial.…”

Correlation between types of Ventricular Septal Defect and chromosomal abnormalities in Low-Risk Non-Invasive Prenatal Testing: A Retrospective Study

“…Despite the small sample size, larger studies are still needed to further analyze the issue. A study showed that 45.4% of VSD closed in the womb, 30.9% closed in the rst year of life, and those with a defect larger than 3mm did not close spontaneously [15]. The average size of VSD in the operative and the non-operative groups was 3.89mm and 2.87mm, respectively (data not shown).…”

Prenatal detection of major congenital malformations in a cohort of 19 367 Danish fetuses with a complete follow‐up six months after birth

“…The frequency of associated genetic disorders for prenatally diagnosed perimembranous VSD depends on the presence of a first‐trimester screening. The risk of associated genetic disorders for fetuses with perimembranous VSD in the second trimester will be lower if fetuses with trisomies are diagnosed and terminated in the first trimester 13,14 . From a clinical perspective, prenatal detection of ventricular septal defects without a genetic disorder is less critical as it is often asymptomatic at birth, and there is no need for immediate treatment.…”

“…The risk of associated genetic disorders for fetuses with perimembranous VSD in the second trimester will be lower if fetuses with trisomies are diagnosed and terminated in the first trimester. 13,14 From a clinical perspective, prenatal detection of ventricular septal defects without a genetic disorder is less critical as it is often asymptomatic at birth, and there is no need for immediate treatment. Prenatal detection may lead to increased parental stress during pregnancy.…”