1. Department of Gynecology, Félix Guyon Hospital, 97400 Saint-Denis, Ile de la Réunion, France. 
2. Department of Genetic, Félix Guyon Hospital, 97400 Saint-Denis, Ile de la Réunion, France.
3. Department of radiology, Félix Guyon Hospital, 97400 Saint-Denis, Ile de la Réunion, France.
4. Department of Neonatology, Félix Guyon Hospital, 97400 Saint-Denis, Ile de la Réunion, France.

A 30-year-old-woman, G2P1, was referred to our antenatal unit at 22 weeks due to unilateral cleft lip. Her first trimester screening was reported to be normal (nuchal translucency = 1 mm; triple test 1/1000).

Our examination revealed following anomalies:

Unilateral right cleft lip:

Microtia of the right ear

22 weeks - ear length was just 13 mm at 22 weeks - normal length at 22 weeks is 18 mm

Ventricular septal defect of the heart was noted:

Unilateral cerebral ventriculomegaly (9 mm) was present, without dilation of the third and fourth ventricle:

Unilateral left choanal hypoplasia was suspected:

30 weeks - right ear length was 20 mm (normal ear length at 30 weeks is 26 mm). Shape of the ear was also abnormal.

At 30 weeks also the left ear length was smaller than normal.

Amniocentesis revealed normal karyotype (46 XX). Microarray-based comparative genomic hybridization (array CGH) was also done, but did not reveal any anomaly. Maternal serologic tests were normal (Toxoplasmosis, Rubeola, CMV, Herpes and Chikungunya).

MRI examination of the fetus at 32 weeks found unilateral cerebral ventriculomegaly (13 mm) and absent olfactory bulbs. 

The parents opted for the termination of the pregnancy at 33 weeks. The described anomalies including the unilateral choanal atresia were confirmed. Coloboma was present in one eye. 

Diagnosis of CHARGE syndrome (coloboma of the eye, heart defects, atresia of the nasal choanae, retardation of growth and/or development, genital and/or urinary abnormalities, and ear abnormalities and deafness) was suspected and confirmed by molecular testing (mutation in the CHD7 gene).