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Ultrasound prenatal diagnosis of congenital primary aphakia: case report
Filippo Di Meglio1, Carmine Vascone2, Letizia Di Meglio3
1Department of Ginecological-Obstetrical Sciences and Urological Sciences, "Sapienza" University of Rome, Rome, Italy.
Introduction:
the ultrasound prenatal diagnosis of aphakia is a difficult diagnosis and often requires a genetic study of the karyotype.
Case Report:
we present a rare case of prenatal bilateral aphakia, confirmed after bird. The patient was observed by ultrasound during the 23rd week of pregnancy. Through transabdominal ultrasound the lens could not be visualized bilaterally. The remaining anathomy, explorable by ultrasound, was still regular. When aphakia is suspected, genetic counseling is essential.
Conclusion:
a differential diagnosis between aphakia and anophtalmia is necessary. A TORCH complex evaluation can be useful. Amniocentesis is always required.
