20 May 2004
Atrioventricular septal defects (AVSD) with and without genetic syndromes – prenatal diagnosis, management, treatment and follow-up
Helena Sławska, Bartosz Czuba, Stanisław Włoch, Barbara Goc, Ewa Wojciechowska, Agata Włoch, Lesław Szydłowski, Janusz Świetliński, Jerzy SikoraMed Sci Monit 2004; 10(2): 18-22 :: ID: 11840
Abstract
Background: Authors analyse an association of prenatal diagnosis of AVSD with genetic syndromes, extracardiac malformations or heterotaxy syndromes and neonatal follow-up.Material/Methods: Sixteen cases of atrioventricular septal defect (AVSD) detected prenatally were ascertained between 2000–2003.Results: Mean gestational age of the first echo exam was 27.3 weeks (range from 18–38 wks). Five (31%) fetuses were referred because of abnormal 4-chamber view. Ten (63%) mothers were from low-risk group. We divided fetuses into two groups: I – different types of AVSD, II – heterotaxy syndromes (HS). Group I consisted of: balanced AVSD – 10; unbalanced – 1 (with LV dominance);AVSD with tetralogy of Fallot (ToF) – 1, AVSD with coarctation of aorta (CoA). Group II – 3: left atrial isomerism – 2; right atrial isomerism – 1. Extracardiac malformations were found in 6 fetuses in both groups. All HS fetuses had normal karyotype; in one case complete heart block was noted, in 2 cases – other arrhythmias. There were 12 (92%) fetuses with chromosomal anomalies in the group I: 7 – trisomy 21; 4 – trisomy 18; 1 – trisomy 13. In the group I: intrauterine demise (IUD) was in 1 case. Neonatal or infant deaths occurred in 6 cases. There were 6 survivors (4 after cardiac surgery, 1 before cardiac surgery and 1 pregnancy is lasting). In the group II: neonatal or infant death occurred in 2 cases; there was 1 survivor (after cardiac surgery). Survival rate was 46% in the group I, and 33% in the group II.Conclusions: 1. Majority of fetuses with AVSD was not referred for fetal echo due to abnormal 4-chamber view, but most of all were from low-risk group. 2. Prenatal karyotyping is necessary when AVSD is diagnosed because of high association with chromosomal anomalies. 3. In cases when other ultrasound markers of chromosomal abnormalities were not found, fetuses with HS can be excludedfrom prenatal karyotyping. The low survival rate in examined group of fetuses with AVSD could be associated with high coexistence of cardiac defect with chromosomal and extracardiac malformations.
Keywords: heterotaxy syndrome, chromosomal abnormalities, Prenatal Diagnosis, atrioventricular canal
Editorial
01 April 2024 : Editorial
Editorial: Forty Years of Waiting for Prevention and Cure of HIV Infection – Ongoing Challenges and Hopes for Vaccine Development and Overcoming Antiretroviral Drug ResistanceDOI: 10.12659/MSM.944600
Med Sci Monit 2024; 30:e944600
In Press
06 Mar 2024 : Clinical Research
Comparison of Outcomes between Single-Level and Double-Level Corpectomy in Thoracolumbar Reconstruction: A ...Med Sci Monit In Press; DOI: 10.12659/MSM.943797
21 Mar 2024 : Meta-Analysis
Economic Evaluation of COVID-19 Screening Tests and Surveillance Strategies in Low-Income, Middle-Income, a...Med Sci Monit In Press; DOI: 10.12659/MSM.943863
10 Apr 2024 : Clinical Research
Predicting Acute Cardiovascular Complications in COVID-19: Insights from a Specialized Cardiac Referral Dep...Med Sci Monit In Press; DOI: 10.12659/MSM.942612
06 Mar 2024 : Clinical Research
Enhanced Surgical Outcomes of Popliteal Cyst Excision: A Retrospective Study Comparing Arthroscopic Debride...Med Sci Monit In Press; DOI: 10.12659/MSM.941102
Most Viewed Current Articles
17 Jan 2024 : Review article
Vaccination Guidelines for Pregnant Women: Addressing COVID-19 and the Omicron VariantDOI :10.12659/MSM.942799
Med Sci Monit 2024; 30:e942799
14 Dec 2022 : Clinical Research
Prevalence and Variability of Allergen-Specific Immunoglobulin E in Patients with Elevated Tryptase LevelsDOI :10.12659/MSM.937990
Med Sci Monit 2022; 28:e937990
16 May 2023 : Clinical Research
Electrophysiological Testing for an Auditory Processing Disorder and Reading Performance in 54 School Stude...DOI :10.12659/MSM.940387
Med Sci Monit 2023; 29:e940387
01 Jan 2022 : Editorial
Editorial: Current Status of Oral Antiviral Drug Treatments for SARS-CoV-2 Infection in Non-Hospitalized Pa...DOI :10.12659/MSM.935952
Med Sci Monit 2022; 28:e935952