Prenatal Dönemde Kardiyak Anomali Saptanan Hastaların Genetik Hastalıklar Açısından Postnatal Değerlendirilmesi

Abstract

Yılbaş Kara, Gülcan, Postnatal Evaluation for Genetic Diseases of Individuals with Prenatally Detected Cardiac Anomalies, Hacettepe University, Faculty of Medicine, Thesis of Department of Pediatrics, Ankara 2021. Congenital heart diseases (CHD) stand for structural or functional defects of the heart or intrathoracic great vessels that occurred during the intrauterine period. CHD covers approximately one third of all congenital anomalies. Genetic and environmental factors take place in the etiology of CHD, however only a small portion of these factors are known and are heterogenous. In this study, it was aimed to investigate the genetic etiology of the fetuses with cardiac defects detected antenatally that were confirmed postnatally or during postmortem investigations. CHD classifications, diagnostic consistency of prenatal and postnatal tests, anthropometric measurements, maternal exposure to medications and infections, family history of CHD, coexistent anomalies, functional disabilities and genetic diseases of 268 cases were evaluated, after referral Pediatric Cardiology and/or Obstetrics and Gynecology clinics to Department of Pediatric Genetics of Hacettepe University Faculty of Medicine, between August 2016 and March 2020. Postnatal and postmortem cardiac evaluations showed that 210 of 258 cases had variable cardiac defect types; simple in 100 cases (38.8%), complex in 84 (32.6%), moderate in 22 (8.5%) and other cardiac anomalies in four (1.6%). Postnatal cardiac findings were consistent with fetal cardiac assessment, and 39% of the fetuses with echogenic intracardiac focus were born with normal cardiac anatomy. Extracardiac malformations were present in 61 (29%) of the patients; renal anomalies were the most frequent (25.3%), followed by intracranial (17.3%), musculoskeletal (10.4%) and abdominal (9.6%) anomalies. Furthermore, growth retardation (17.5%), ophthalmic anomalies (13.2%), hypothyroidism (7.8%), hypocalcemia (4.2%) and hearing loss (1.3%) were detected. In this study, 25 of 210 individuals (11.9%) were diagnosed with genetic disorders. Chromosomal analysis revealed trisomy 21 in seven, trisomy 18 in two, and trisomy 13 in one of the patients; copy number analysis revealed 22q11.2 deletion syndrome in five, 9p34 deletion in one, 4q31 duplication and 10p26 deletion in one of the patients. Clinical evaluation led to the diagnoses of 22q11.2 deletion syndrome in two, VACTERL association in two, PHACES syndrome in one, acrocardiofacial syndrome in one, CHARGE syndrome in one and Ivemark syndrome in one of the patients. The evaluation for genetic etiology and coexistent anomalies of CHD patients would increase the proportion of integrative clinical diagnoses.