Proximal femoral focal deficiency is a rare skeletal disorder, with an estimated incidence of 0.11 to 0.2/10,000 births. The bilateral form is uncommon, occurring in 10 to 15% of cases. We report a case of bilateral proximal femoral focal deficiency diagnosed by ultrasound at 30 weeks' gestation. Differential diagnosis, prognosis and management are discussed.
We report a case of Klippel-Trenaunay-Weber syndrome presenting prenatally as a massive congenital lymphangiohemangioma of the thigh. Routine ultrasonographic examination revealed multiple distorted cystic areas extending from the right flank through the right lower extremity of a 30-week fetus. A diagnosis of cystic lymphangioma of the thigh was suspected prenatally. Neonatal evaluation confirmed the prenatal findings. Neonatal color Doppler imaging revealed blood vessels within the tumor. The differential diagnosis is discussed together with available therapeutic procedures.
We report a case of cutaneous hemangioma of the thigh detected by prenatal ultrasound. A hypoechoic homogeneous mass, filled with low-density echoes, was visualized on the posterior aspect of the right thigh, close to the genital region, at 36 weeks. Low-velocity arterial flow was detected within the mass by color and pulsed Doppler and the diagnosis of cutaneous hemangioma was suspected. No other anomalies were detected and the pregnancy evolved uneventfully to term. The prognosis and management of this condition are discussed.
Twin reversed arterial perfusion (TRAP sequence) occurs only in the setting of a monochorionic pregnancy and complicates 1 percent of monochorionic twin gestations, with an incidence of 1 in 35,000 births. In the TRAP sequence, the acardiac/acephalic twin receives all of its blood supply from the normal, 'pump twin'. A case of TRAP sequence was diagnosed at 8 weeks of gestation using transvaginal three-dimensional color Doppler ultrasound. Ultrasound imaging showed a monochorionic-monoamniotic twin pregnancy with normal morphology and growth of the first twin. Three-dimensional ultrasound examination showed growth restriction of the second twin, abnormal cephalic pole with acrania, no presence of cardiac activity, and presence of retrograde perfusion in the umbilical artery of the abnormal twin. With the three-dimensional ultrasound images that we presented, we showed that early diagnosis of acardiac twins is possible. Early confirmation of TRAP sequence allows early treatment and better outcome of pregnancy. P09.04 An early diagnosis of trisomy 18 by 2-3-4D at 10th week
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