PP169. FETAL THANATOPHORIC DYSPLASIA - SECOND TRIMESTER ULTRASOUND EXAMINATION
DINU FLORIN ALBU, E. Severin, C. Albu, A. Toma Carol Davila University of Medicine and Pharmacy, Bucharest, Romania e-mail: emilia@cis.ro
*Corresponding Author:
page: 123

Abstract

Thanatophoric dysplasia (TD) is a severe congenital skeletal disorder that is lethal in fetuses and neonates. The condition is characterized by multiple skeletal abnormalities (extremely short limbs, narrow chest, short ribs and large head with frontal bossing). TD is divided into two types, depending upon whether the femur is bowed (type I) or straight (type II). Type II is also associated with a severe malformation of the skull, brain and face called cloverleaf skull. Both types are caused by "de novo" autosomal dominant mutations in FGFR3 gene. Objective: To specify the role of 3D ultrasonography as a screening tool for the prenatal detection of skeletal dysplasia and to describe the ultrasound findings suggesti ve of TD. Patients and Methods: A 34-year-old female was referred at 19 weeks' gestation for a routine prenatal ultrasound. The patient was examined with Color Doppler and 3D system. We also collected information about family medical history. Results: The patient's obstetrics history revealed three previous miscarriages, all in the second trimester (unknown causes). Her third pregnancy ended at 24-weeks with a stillborn fetus (TD morphology appearance but no radiologic examination or molecular genetic testing were made). A 3D ultrasound examination of fourth pregnancy identified a single fetus with skeletal findings suggestive of TD type II: micromelia with straight femurs and cloverleaf skull deformity. More associated anomalies were detected. The couple chose to terminate the pregnancy. Conclusions: Genetic counseling and evaluation based on both 3D ultrasonography and the molecular genetic testing should be considered for the next pregnancy.




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