Ran Svirsky1,2,3, Dana Brabbing-Goldstein1, Uri Rozovski3,4, Livia Kapusta3,5,6, Adi Reches1, Yuval Yaron1,3. 1. a Prenatal Genetic Diagnosis Unit & Genetic Institute , Tel Aviv Sourasky Medical Center , Tel Aviv , Israel. 2. b Department of Obstetrics And Gynecology , Assaf Harofe Medical Center , Zrifin , Israel. 3. c Sackler School of Medicine , Tel Aviv University , Tel Aviv , Israel. 4. d Davidoff Cancer Center , Institute of Hematology, Beilinson Hospital , Tel Aviv , Israel. 5. e Children's Heart Center , Amalia Children's Hospital, Radboud University Medical Centre , Nijmegen , The Netherlands. 6. f Pediatric Cardiology Unit, Tel Aviv Sourasky Medical Center, Sackler School of Medicine , Tel Aviv University , Tel Aviv , Israel.
Abstract
Introduction: Our objective was to evaluate the incidence of chromosomal aberration (both microscopic and submicroscopic) and the clinical outcome of fetuses with isolated muscular ventricular septal defect (VSD). Material and methods: The study included 40 pregnant women whose fetuses were diagnosed with isolated muscular ventricular septal defect (mVSD). Of these, 30 patients underwent amniocentesis and 10 declined. All samples were tested by chromosomal microarray analysis (CMA). Of the 40 women in the study, 32 gave birth and the clinical outcome of the children was retrieved from the patients' medical records. Results: Of the 30 patients who underwent amniocentesis, one was detected with mosaic Klinefelter syndrome and one was detected with a pathogenic copy number variant unrelated to the VSD. Clinical follow-up was performed on 26 children after birth. The first postnatal echocardiography did not detect a VSD in 13 (50%) of the followed-up children. Spontaneous closure occurred in another eight (30.8%) children during the postnatal follow-up period. In only five children (19.2%) VSD was still detected by echocardiography after the first year of life. Discussion: Isolated muscular VSD diagnosed prenatally does not appear to be a significant risk factor for chromosomal abnormalities and has a favorable clinical outcome.
Introduction: Our objective was to evaluate the incidence of chromosomal aberration (both microscopic and submicroscopic) and the clinical outcome of fetuses with isolated muscular ventricular septal defect (VSD). Material and methods: The study included 40 pregnant women whose fetuses were diagnosed with isolated muscular ventricular septal defect (mVSD). Of these, 30 patients underwent amniocentesis and 10 declined. All samples were tested by chromosomal microarray analysis (CMA). Of the 40 women in the study, 32 gave birth and the clinical outcome of the children was retrieved from the patients' medical records. Results: Of the 30 patients who underwent amniocentesis, one was detected with mosaic Klinefelter syndrome and one was detected with a pathogenic copy number variant unrelated to the VSD. Clinical follow-up was performed on 26 children after birth. The first postnatal echocardiography did not detect a VSD in 13 (50%) of the followed-up children. Spontaneous closure occurred in another eight (30.8%) children during the postnatal follow-up period. In only five children (19.2%) VSD was still detected by echocardiography after the first year of life. Discussion: Isolated muscular VSD diagnosed prenatally does not appear to be a significant risk factor for chromosomal abnormalities and has a favorable clinical outcome.
Authors: Ken Cheng; Hang Zhou; Fang Fu; Tingying Lei; Fucheng Li; Ruibin Huang; You Wang; Xin Yang; Ru Li; Dongzhi Li; Can Liao Journal: Front Cardiovasc Med Date: 2022-09-07