Prenatal Diagnosis of Fetal Cardiac Anomalies: Diagnostic Concordance with Postnatal Echocardiography and Perinatal Outcomes
Aylin Yılmaz1
, Fatih Alparslan Genç2, Didar Kurt1, Gizem Elif Dizdaroğulları3, İsmail Bağlar1, Beyzanur Kahyaoğlu1, Yeliz Çeçen1
1Department of Obstetrics and Gynecology, Kartal Dr. Lütfi Kırdar City Hospital, İstanbul, Türkiye
2Department of Pediatric Cardiology, Koşuyolu High Specialization Training and Research Hospital, İstanbul, Türkiye
3Department of Obstetrics and Gynecology, Private Practice, İstanbul, Türkiye
Keywords: Congenital; echocardiography; fetus; heart defects; infant; newborn; pregnancy outcome; prenatal diagnosis.
Abstract
Objective: This study aimed to evaluate the concordance between prenatal and postnatal diagnoses in pregnant women with detected fetal cardiac anomalies and to present the perinatal outcomes of these pregnancies.
Methods: A total of 9,755 fetal echocardiographic examinations performed at our hospital’s perinatology clinic between January 2019 and May 2025 were retrospectively analyzed. Ninety-two fetuses with structural cardiac anomalies identified during these examinations were included in the study. Maternal demographic characteristics, prenatal ultrasound and echocardiographic findings, the presence of accompanying extracardiac or genetic anomalies, pregnancy outcomes, and postnatal echocardiography results were examined. The concordance between prenatal and postnatal cardiac diagnoses in live-born infants was analyzed.
Results: The mean gestational age at diagnosis was 23.07±4.15 weeks. Septal defects were the most common cardiac anomalies (45.7%), followed by conotruncal defects (18.5%) and left-sided obstructive lesions (15.2%). Due to severe cardiac and/or associated extracardiac or genetic anomalies, pregnancy was terminated in 10 cases (10.9%). Prenatal and postnatal cardiac diagnoses were consistent in 72 of the 82 live births (87.8%), whereas inconsistencies were detected in 10 cases (12.2%). These inconsistencies were most commonly associated with small or muscular ventricular septal defects. Eleven deaths were observed in the postnatal period.
Conclusion: Prenatal diagnosis of fetal cardiac anomalies is important for the early detection of associated structural and genetic anomalies. Accurate diagnosis supports informed decision-making regarding the continuation or termination of pregnancy. Furthermore, early diagnosis of severe cardiac defects allows delivery to be planned in well-equipped centers and enables rapid postnatal intervention, which may positively influence neonatal outcomes. These findings emphasize the importance of prenatal echocardiography and a multidisciplinary approach in the perinatal management of congenital heart disease.
Cite This Article: Yılmaz A, Genç FA, Kurt D, Dizdaroğulları GE, Bağlar İ, Kahyaoğlu B, Çeçen Y. Prenatal Diagnosis of Fetal Cardiac Anomalies: Diagnostic Concordance with Postnatal Echocardiography and Perinatal Outcomes. Koşuyolu Heart J 0000;00(0):1–7