Atrioventricular septal defect, cleft lip and unilateral ventriculomegaly

Cuillier F, MD Bideaut J, MD Daguindeau D, MD Pilorget H, MD Alessandri JL, MD

Article Published: Dec 8, 2005

Cuillier F, MD*
Bideaut J, MD**
Daguindeau D, MD **
Pilorget H, MD***
Alessandri JL, MD***

* Department of Gynecology, ***Department of Neonatology,Hôpital Félix Guyon, **Department of Gynecology, Hôpital Intercommunal, Ile de la Réunion, France.

This is a case of a 26-year-old woman, G5P4, with no known obstetric risk factors. The triple test (1:10,000) and the nuchal translucency (0,5 mm) were normal. The first scan was normal. The second scan performed at 23 weeks revealed differents anomalies:

atrioventricular septal defect
left cleft lip and cleft palate
unilateral ventriculomegaly (13 mm)
discrete bilateral pyelectasy

At 24 weeks, an amniocentesis was performed and the karyotype was normal (46 XX) without any microdeletion 22q11. At 31 weeks, we performed a MRI of the brain, which was normal.

At 31 weeks, the patient had a premature labor and the baby was born (girl, 1400g). The external analysis confirmed the sonographic findings. The echocardiography showed a interatrial (10mm) and a interventricular communication. On the fifth day of life, the kidney scan was normal. The neurological examination was normal. Few weeks later, the interventricular septal defect was closed. The baby left the neonatal department at day 40. The cleft lip surgery will be program in few weeks.

Atrioventricular septal defect