Maternite Les Bluets 75011 Paris

This is a 20-year-old primigravida with no medical history or consanguinity, referred for ultrasound at 13 weeks of gestation. The following features were noted in the fetus:

Alobar holoprosencephaly

Microretrognatism, probable medial facial cleft, nasal bone not visible, abnormal nuchal translucency > 95th of the percentile

Abnormal ductus venosus Doppler (negative a wave)

Omphalocele

Bilateral hydronephrosis, suggesting the possibility of posterior urethral valves was also noted.
With all these findings, the diagnosis of trisomy 13 was made.