Sex differences for major congenital heart defects in Down Syndrome: A population based study

European Journal of Medical Genetics
Michele SantoroAnna Pierini

Abstract

Down syndrome (DS) is the most common autosomal chromosomal anomaly in liveborn infants. About 40% of infants with DS have a major congenital heart defect (CHD). Among them, atrioventricular septal defects (AVSD), atrial septal defects (ASD), ventricular septal defect (VSD) and Tetralogy of Fallot (ToF) are the most common. The aim of this study was to estimate the sex difference in the occurrence of CHD in infants with DS comparing it with non-DS infants. Live birth cases of DS diagnosed by the first year of life were extracted from the Registry of Congenital Anomalies of Tuscany (2003-2015 period). CHDs associated with DS were detected both from the registry and the hospital discharge data. Sex differences in total CHDs and ASD, VSD, AVSD, severe CHDs, ToF subgroups were investigated. Relative Risks between males and females (RRMF) with p-values and 95% confidence interval (95% CI) were estimated. RRMF of CHD in infants with DS was compared to RRMF in infants without DS. The ratio between relative risks (RRR) was estimated. A total of 230 live birth cases of DS were analyzed, with a prevalence of 5.70 per 10,000 births. Sex ratioMF was 1.3. One hundred and one DS cases (43.9%) were associated with at least one CHD. Among them...Continue Reading

Citations

Jul 20, 2019·American Journal of Medical Genetics. Part a·Jorge Román Corona-RiveraChristian Peña-Padilla
Dec 24, 2019·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Angela E LinIris Gutmark-Little
Jan 4, 2020·Acta Paediatrica·Niamh LaganEleanor J Molloy
Apr 14, 2020·Journal of Immunology Research·Luigi TaraniMarco Fiore
Oct 25, 2020·Trends in Genetics : TIG·Anna J MoyerRoger H Reeves
Mar 27, 2021·American Journal of Obstetrics and Gynecology·April D AdamsDiana W Bianchi
Jan 5, 2021·Cardiovascular & Hematological Disorders Drug Targets·Alireza NezamiMasoumeh Kariminia

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