introduction: cloacal malformation is an extremely rare fetal pathological condition but an important anomaly that presents as a variety of defects. it predominantly affects females, with prevalence of 1 in 50,000 births. prenatal ultrasonography usually showed oligohydramnios and the fetus having a large cystic mass in the lower abdomen with a single septum, bilateral hydronephrosis, ambiguous...

Restrictive dermopathy is a lethal autosomal recessive skin disease. Prenatal diagnosis has not yet been reported. We present a case of restrictive demography and describe the associated prenatal sonographic findings. A continuously open mouth was the most striking feature and this sonographic finding may be a marker of a skin disease.

The prenatal diagnosis of thrombocytopeniaabsent radius (TAR) syndrome by ultrasound is established. The sonographic findings showed bilateral absence of the radii and club hands with normal thumbs and metacarpals. Thrombocytopenia was identified from the postabortal cord blood. Three-dimensional computerized tomography images confirmed the sonographic diagnosis. This report, to our knowledge, ...

OBJECTIVE The purpose of this study was to assess the accuracy of prenatal sonographic diagnosis of birth defects and the gestational age at detection according to the health insurance schemes of mothers in 450 malformed neonates from 18 South American hospitals on the basis of prenatal sonographic records. METHODS Between July 2000 and December 2003, 18 hospitals included in the Latin Americ...

OBJECTIVE This manuscript reviews congenital anomalies and imaging findings associated with non-visualisation of the cavum septi pellucidi (CSP) found on prenatal sonogram. BACKGROUND Observation of a normal cavum septi pellucidi (CSP) is an important landmark in the second and third trimester prenatal ultrasound evaluation of the fetal brain, and its visualisation provides reassurance of nor...

INTRODUCTION Urorectal septum malformation sequence (URSMS) is a rare congenital abnormal syndrome that is caused by the incomplete division of the cloaca. Based on whether the cloaca membrane breaks down or not, the URSMS are classified as full and partial forms. The prenatal diagnosis of URSMS remains challenging because of poor recognition to this malformation and the relatively non-specific...

Prenatal ultrasound can often reliably distinguish fetal anatomic anomalies, particularly in the hands of an experienced ultrasonographer. Given the large number of existing syndromes and the significant overlap in prenatal findings, antenatal differentiation for syndrome diagnosis is difficult. We constructed a hierarchic tree of 1140 sonographic markers and submarkers, organized per organ sys...

We report the prenatal sonographic diagnosis of hydrometrocolpos caused by an imperforate hymen in a Down syndrome fetus, with spontaneous evacuation on the third day of life. In this case, sonographic evaluation in the 37th week revealed a large retrovesical, sharply marginated, heterogeneous, unilocular cystic structure within the fetal abdomen extending to the left side of the umbilicus.

Two second-trimester cases and one third-trimester case of intrauterine cytomegalic inclusion disease (CID) are presented, each having a different intracranial sonographic presentation. The findings are correlated with radiographic studies and the known pathophysiology. Sonographic evidence of intrauterine cerebral necrosis or calcification should alert one to the possibility of CID, particular...