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Aim : To evaluate the incidence of chromosomal aberrations in apparently isolated ventricular septal defects (VSD), quantify the timing of diagnosis of prenatally diagnosed VSDs, and define the spontaneous closure rate prenatally both in utero and during the first year of life.Materials and methods : Medline, PubMed, and the Cochrane Database Library were searched to identify studies published between January 2013 and January 2023 using keywords and word variant combinations for isolated ventricular septal defect, fetal echocardiography, karyotype, genetics, array CGH, spontaneous closure, and outcome. Inclusion criteria: studies reporting apparently isolated ventricular septal defect. Primary outcomes: to find the incidence of chromosomal aberrations in apparently isolated ventricular septal defects, and quantify the timing of diagnosis. Secondary outcome: to define the spontaneous closure rate in utero and in the first year of life. Statistical analysis was performed using Jamovi Meta-Analysis major package 2.3.21 Solid. To combine data, we used proportions and maximum likelihood ratios.Results : Overall, the maximum likelihood ratio of chromosomal aberrations in antenatally diagnosed apparently isolated VSD was 2.7%. The different types of defects showed substantially different rates of chromosomal aberrations. Muscular VSDs had a chromosomal aberrations rate of 0.4% vs. 4.8% for perimembranous VSDs. Mean gestational age of diagnosis was 25 +4  days. Spontaneous closure rate maximum likelihood ratio in utero was 28.6%. Higher closure rate in utero was observed for the perimembranous type while muscular VSDs showed higher closure rates after birth. Closure in utero was observed in 28.9% of the perimembranous VSDs and in 14.5% of the muscular VSDs. Closure after 12 months was found in 22% for the perimembranous defects and in 53.8% for the muscular defects. The presented results could be of use in informed prenatal counseling and of great help in parental decision making.Conclusions : This systematic study included 740 isolated ventricular septal defects, of which 422 were muscular and 165 were perimembranous. Other types were not specified. One hundred fifty-nine perimembranous and 384 muscular VSDs were available for a follow-up after 12 months of life. Chromosomal aberrations were detected in 4.8% of the perimembranous VSDs and in 0.4% of the muscular VSDs.

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Apparently isolated ventricular septal defect, prenatal diagnosis, association with chromosomal aberrations, spontaneous closure rate in utero and during the first year of life: a systematic review