Prenatal detection of chromosomal abberations: A case report of Trisomy 9

Introduction:

Trisomy 9 is a rare chromosomal abnormality. It combines multiple defects giving a poor prognosis.

The therapeutic pregancy interruption is always an option.

Case study:

We reported a case of a 35- year -patient who had no pathological history and non-consanguineous marriage. She had two children in good health.

During this pregnancy, the first trimester ultrasound and measurement of nuchal translucency were not performed. A cystic hygroma was discovered at 18 WG associated to a complex cardiac defect and a left diaphragmatic hernia, without other Ultrasound signs.

Amniocentesis showed Trisomy 9.

A therapeutic interruption of the pregnancy was performed.

The examination of the fetus had confirmed ultrasound abnormalities.

For the cardiac anomaly, examination showed a common trunk aortic-pulmonary.

Conclusion:

Antenatal diagnosis of trisomy 9 is very rare.

This rare chromosomal abnormality associated brain malformations, congenital heart defects and abnormalities of the extremities.