EC Clinical and Medical Case Reports

Among the congenital malformations the most common are the congenital heart defects (CHD) that occur in about 10% of the newborns.

Congenital heart malformations diagnosis is most often made in the second trimester of pregnancy at the second trimester anomaly scan.

Early diagnosis, however, offers significant advantages regarding the opportunities of further investigations, counselling of future parents and access to management options.

Among other investigations in case of CHD diagnosis are the tests for detecting chromosomal abnormalities (CVS or cff DNA), knowing that the association of some CHD with aneuploidies that might change the management options and the counselling.

We present the case of a patient, a primigravida that came into our clinic at 11+3 days weeks of gestation for her first trimester screening and the fetus was diagnosed with a CHD-atrioventricular septal defect (AVC).

 Keywords: CHD (Congenital Heart Disease); AVC (Atrioventricular Canal); Aneuploidies; CVS (Chorionic Villous Sample)

1. Bilardo CM., et al. “ISUOG practice guidelines performance at 11-14 weeks ultrasound scan”. Ultrasound in Obstetrics and Gynecology 1 (2023): 127-143.
2. Chaoui R. “The four chamber view: four reasons why it seems to fail in screening for cardiac abnormalities and suggestions to improve detection rate: editorial”. Ultrasound in Obstetrics and Gynecology 1 (2003): 3-10.
3. De Roberts V., et al. “Tetralogy of Fallot and outlet ventricular septal defect with anterior malalignement detected at early fetal echocardiography”. Fetal Diagnosis and Therapy 10 (2020): 765-771.
4. Hutchinson D., et al. “First trimester echocardiography: identification of cardiac structure for screening from 6 to 13 weeks gestational age”. Journal of the American Society of Echocardiography 8 (2017): 763-772.
5. Wawrzynec R., et al. “Congenital heart anomalies in the first trimester: From screening to diagnosis”. Prenatal Diagnosis7 (2023): 889-900.
6. Lawrence Cullum and Jerome Liebman. “Natural history of transposition of the great arteries”. American Journal of Cardiology (1968).
7. Charlotte Ferencz., et al. “Congenital cardiovascular malformations associated with chromosome abnormalities: an epidemiologic study”. The Journal of Pediatrics1 (1989): 79-86.