We report on an 18-week gestation fetus with 46,XX karyotype, gonadal agenesis, meningo-encephalocele, spina bifida, omphalocele, webbing of right upper limb, deformed right clavicle and right sided ribs, absent interventricular septum, hypoplastic aorta, hypoplastic spleen, and single umbilical artery. This case is similar to the one previously described by Kennerknecht et al. in 1997 and may represent a unique syndrome.

Integration of NT and second trimester serum AFP and hCG assay yielded the best screening efficacy for Down syndrome.

To evaluate the sonographic characteristics of the cloacal anomaly on prenatal ultrasound and to correlate with pathologic findings. Methods: From March 1991 to December 2002, eight cases with the persistent cloaca (4 cases in female 1 case in male) and cloacal exstrophy (3 cases) diagnosed by prenatal ultrasound examination were included, and all of them were pathologically confirmed by autopsy. One radiologist retrospectively analyzed the prenatal sonographic findings, including the urinary bladder, kidney, pelvic cyst, abdominal wall defect and amount of amniotic fluid. Results: The ultrasonographic diagnosis was established at 21.8 ± 7.8 weeks of gestation. The prenatal sonographic findings of the persistent cloaca were absent bladder (n = 2), distended bladder (n = 2), and small thick bladder (n = 1). Sonography of kidney showed normal (n = 2), hydronephrosis (n = 1), dysplasia (n = 1), and unilateral hydronephrosis with absent contralateral kidney (n = 1). Four fetuses showed septated pelvic cyst; three fetuses, oligohydramnios. The prenatal sonographic findings of cloacal exstrophy included absent bladder (n = 3), normal kidney (n = 1), hydronephrosis (n = 1), and absent kidney (n = 1). All fetuses with cloacal exstrophy had abdominal wall defect while two of them had ligohydramnios. Conclusions: A prenatal diagnosis of persistent cloaca can be confidently made when there is septated pelvic cyst combined oligohydramnios, sediments within the cyst and intraluminal calcifications. Cloacal exstrophy should be included in diagnosis if there is a low abdominal wall defect with absent urinary bladder.