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Articles » Aneuploidy » Trisomy 13

2004-10-17-20 Trisomy 13 © Gourand

Trisomy 13

Luc Gourand, MD

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)


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

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