Proximal femoral focal deficiency of the fetus - early 3D/4D prenatal ultrasound diagnosis.
Proximal Femoral Focal Deficiency (PFFD) is a rare congenital syndrome of unknown etiology. Additional disorders can be present up to 70% of PFFD cases. Management (including termination) depends on the severity of the malformation. We present a case of a 32-year-old woman referred for routine ultrasound examination in the 12th week of pregnancy. Detailed 3D/4D evaluation revealed asymmetry of lower limbs and diagnosis of isolated PFFD was established. Parents were fully informed and decided to continue the pregnancy. We stress here the importance of early 3D/4D ultrasound diagnosis. Our paper presents the earliest case where the diagnosis of PFFD was established with 3D/4D ultrasound.
Clinical Department of Oncological Gynecology, Obstetric and Gynecology, Chair of Women's Health, Medical University of Silesia, Katowice, Poland. marekkudla@hotmail.com.
Marek J
MJ
Kudla
Medical University of Silesia, Katowice, Poland.
Aleksandra
A
Beczkowska-Kielek
Medical University of Silesia, Katowice, Poland.
Katarzyna
K
Kutta
Department of Gynecology and Obstetrics, Medical University of Silesia, Katowice, Poland.
Justyna
J
Partyka-Lasota
D000328:Adult; D005260:Female; D005269:Femur / Q000002:abnormalities* / Q000000981:diagnostic imaging*; D006801:Humans; D021621:Imaging, Three-Dimensional / Q000379:methods*; D007231:Infant, Newborn; D011247:Pregnancy; D016216:Ultrasonography, Prenatal / Q000379:methods*