1/4. Acute oligohydramnios and deteriorating fetal biophysical profile associated with severe preeclampsia.Acute changes in fetal biophysical profile (BPP) status usually include rapid cessation of all nonessential acute biophysical activities, yet not necessarily an acute decrease in the amniotic fluid volume, or oligohydramnios. A 36-year-old para 3 with early third-trimester severe preeclampsia, mild placental abruption, and fetal growth restriction, with a reassuring BPP of 8/8, was managed expectantly with intravenous magnesium sulfate, hydralazine, and intramuscular corticosteroids. Within 20 h of admission a marked change in the BPP was noted, with a score of 0/8. amniotic fluid index (AFI), which on admission had been 20.1, progressively became 0, despite a stable normovolemic maternal status. At immediate cesarean, a mildly acidotic and hypoxic fetus was delivered which subsequently did well. This case supports the concept that acute oligohydramnios may develop rapidly in the presence of acute fetal hypoxemia.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
2/4. Cloacal outlet obstruction with an ectopic ureter.Cloacal malformation occurs in approximately 1 in 50,000 live female births. Prenatal ultrasound may lead to the diagnosis in selected cases. We report an unusual case of prenatally detected single-system hydronephrosis with a nonvisible bladder and worsening oligohydramnios. Labor was induced at 35 weeks' estimated gestational age. On physical examination, a single perineal opening was noted consistent with cloaca. endoscopy revealed an obstructed ectopic ureter at the level of the sphincter, an undeveloped bladder and vagina, and a fistula to the rectum. A low loop cutaneous ureterostomy and right upper quadrant loop colostomy were performed. The absence of a typical fluid-filled pelvic structure may confound the prenatal diagnosis of cloaca.- - - - - - - - - - ranking = 0.16666666666667keywords = physical (Clic here for more details about this article) |
3/4. Meckel-gruber syndrome associated with gastrointestinal tractus anomaly.Meckel-Gruber syndrome (MGS) is rare autosomal recessive disorder characterized by occipital encephalocele, postaxial polydactyly and polycystic kidneys. A one-day-old girl was admitted to our clinic with occipital encephalocele, polydactyly, ulnar deviation of left hand and failure to thrive. Patient's parents were first-degree relatives. It was learned that the patient's two sisters had died from similar anomalies. In our case, prenatal sonographic examination revealed oligohydramnios and hydrocephaly in the 33rd week of gestation. At birth her weight was 2200 g. Both physical and radiological examinations diagnosed MGS. Cranial computed tomography (CT) showed agenesis of cerebellar vermis and corpus callosum, and cystic dilatation of the 4th ventricle and lateral ventricles. The case died due to severe respiratory distress in the intensive care Unit on day 38. In the postmortem examination, longitudinally located intestine-like stomach was determined without a fundus. In conclusion, intestinal malrotation and hepatic portal fibrosis have been reported in MGS in the literature. In this case, a longitudinally located intestine-like stomach in MGS is reported for the first time. No such association to our knowledge has been previously reported.- - - - - - - - - - ranking = 0.16666666666667keywords = physical (Clic here for more details about this article) |
4/4. Double aneuploidy involving trisomy 7 with Potter sequence.We report a prenatal case of double aneuploidy (consisting of chromosome 7 and X) with the features of Potter sequence. Of the stillborn fetus, skin fibroblast cultures were performed and fluorescence in situ hybridization (FISH) technique was also used for further investigation. On physical examination; the fetus was found to have malformed ears, micrognatia, hypertelorism, abnormal extremities, rocker-bottom feet and abnormal external genitalia and polycystic right kidney was seen after an extensive autopsy. As amniocentesis and cordocentesis materials revealed x chromosome mosaicism, trisomy 7 was detected in the skin fibroblast culture of the ex fetus and karyotype evaluated as composite; 46~47,X, 7,-X[cp18]. FISH results confirmed the double aneuploidy and also revealed XX and XXXX cell lines. Comparison with the previously reported cases of trisomy 7 with Potter syndrome suggests a possible link (if not coincidental) between trisomy 7 and Potter syndrome in our case. This is the first reported case of double aneuploidy involving trisomy 7 with the features of Potter syndrome.- - - - - - - - - - ranking = 0.16666666666667keywords = physical (Clic here for more details about this article) |