Logo Medical Science Monitor

Call: +1.631.470.9640
Mon - Fri 10:00 am - 02:00 pm EST

Contact Us

Logo Medical Science Monitor Logo Medical Science Monitor Logo Medical Science Monitor

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 Sikora

Med Sci Monit 2004; 10(2): 18-22 :: ID: 11840


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

Add Comment 0 Comments

803 1


01 December 2023 : Editorial  

Editorial: Outbreaks of Post-Pandemic Childhood Pneumonia and the Re-Emergence of Endemic Respiratory Infections

Dinah V. Parums

DOI: 10.12659/MSM.943312

Med Sci Monit 2023; 29:e943312


In Press

01 Dec 2023 : Clinical Research  

Risk Factors and Clinical Outcomes of COVID-19 Infection in Multiple Sclerosis Patients: A Retrospective St...

Med Sci Monit In Press; DOI:  

30 Nov 2023 : Review article  

Decoding the Neurological Sequelae of General Anesthesia: A Review

Med Sci Monit In Press; DOI:  

30 Nov 2023 : Clinical Research  

Enhanced Pain Relief and Muscle Growth in Individuals with Low Back Instability: The Impact of Blood Flow R...

Med Sci Monit In Press; DOI:  

29 Nov 2023 : Clinical Research  

Comparative Analysis of Intramedullary Nail versus Plate Fixation for Fibula Fracture in Supination Externa...

Med Sci Monit In Press; DOI:  

Most Viewed Current Articles

13 Nov 2021 : Clinical Research  

Acceptance of COVID-19 Vaccination and Its Associated Factors Among Cancer Patients Attending the Oncology ...

DOI :10.12659/MSM.932788

Med Sci Monit 2021; 27:e932788


30 Dec 2021 : Clinical Research  

Retrospective Study of Outcomes and Hospitalization Rates of Patients in Italy with a Confirmed Diagnosis o...

DOI :10.12659/MSM.935379

Med Sci Monit 2021; 27:e935379


14 Dec 2022 : Clinical Research  

Prevalence and Variability of Allergen-Specific Immunoglobulin E in Patients with Elevated Tryptase Levels

DOI :10.12659/MSM.937990

Med Sci Monit 2022; 28:e937990


08 Mar 2022 : Review article  

A Review of the Potential Roles of Antioxidant and Anti-Inflammatory Pharmacological Approaches for the Man...

DOI :10.12659/MSM.936292

Med Sci Monit 2022; 28:e936292


Your Privacy

We use cookies to ensure the functionality of our website, to personalize content and advertising, to provide social media features, and to analyze our traffic. If you allow us to do so, we also inform our social media, advertising and analysis partners about your use of our website, You can decise for yourself which categories you you want to deny or allow. Please note that based on your settings not all functionalities of the site are available. View our privacy policy.

Medical Science Monitor eISSN: 1643-3750
Medical Science Monitor eISSN: 1643-3750