Cases reported "Fetal Diseases"

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1/18. hemangioma of the umbilical cord: stenotic change of the umbilical vessels.

    We report a rare case of an umbilical cord hemangioma diagnosed by ultrasound at 16 weeks of gestation. The umbilical cord consisted of a hemangioma nodule and pseudocysts near the placental insertion, a large gelatin-like swelling adjacent to the nodule on its fetal side, and a short normal part extending to the navel. At 17 weeks of gestation, this condition resulted in the intrauterine death of the fetus. Microscopically, there were communications between the capillary of the hemangioma and the umbilical vessels, verifying the origin of the tumor. Moreover, the umbilical vein and one of the arteries changed stenotically due to the intravascular proliferation of the hemangioma. These findings indicate the possibility of a pathological association between the umbilical cord hemangioma and fetal demise due to impaired umbilical circulation.
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2/18. prenatal diagnosis of cystic bladder distension secondary to obstructive uropathy.

    We report the perinatal findings of a huge midline posterior cystic bladder distension secondary to lower urinary tract obstruction and prune-belly syndrome in a male fetus. A 40-year-old woman, gravida 3, para 0, was referred at 21 gestation weeks with sonographic findings of anhydramnios and a fetus with a 9.5 x 6.0 cm intra-abdominal cystic mass containing two chambers. The in utero ultrasound-guided fetal bladder drainage using a single needle aspiration and the ultrasound follow-ups of fetal bladder filling provided a diagnostic aid. This method helped to show the position of the bladder and the cystic bladder mass as well as the status of communication in response to decompression or filling of the fetal bladder. cytogenetic analysis revealed a 46,XY karyotype. autopsy showed agenesis of the posterior urethra, prominent megacystis, a cystically distended mass arising from the lower posterior bladder, hydronephrosis, megaureters, and anorectal agenesis with an intestinal blind end adherent to the posterior wall of the uterus. There were no urogenital duplication, hindgut duplication, or urachal abnormalities. The contracted bladder had a full-thickness muscular wall with a trigone and two ureteral orifices while the cystically distended bladder did not have any opening and was lined by a very thin wall. histology of the cystic bladder wall demonstrated typical urothelium, lamina propria and muscularis propria. The pathogenesis and differential diagnosis of cystic bladder distension are discussed.
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3/18. prenatal diagnosis of intrahepatic communications of the umbilical vein with atypical arteries (A-V fistulae) in two cases of trisomy 21 using color Doppler ultrasound.

    We report on two cases of the prenatal diagnosis of arterio-venous communication between the intra-abdominal umbilical vein and atypical arteries. The diagnosis was made by color and spectral Doppler and 'color power angiography'. Both cases presented with hydrops fetalis, one at 14 and the other at 31 weeks of gestation. In the first case, color Doppler demonstrated an atypical arterial vessel connecting the umbilical vein with the aorta; the ductus venosus was patent. echocardiography showed a so-called atrioventricular canal. In the second case, a complex intrahepatic vascular malformation was found. color Doppler demonstrated communications between the umbilical vein and the hepatic artery and an atypical artery; the ductus venosus was patent. In the latter case polyhydramnios, duodenal atresia and macroglossia were additionally detected. In both cases, fetal karyotyping revealed trisomy 21. The first case resulted in a missed abortion, the second in a stillbirth. All findings were confirmed on autopsy. Of interest is that both fetuses were affected with trisomy 21. The increasing use of color Doppler in prenatal diagnosis, especially in hemodynamically compromised fetuses, will help to determine the actual incidence of complex vascular malformations of the umbilical vein and to elucidate the impact of such malformations on fetal outcome.
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4/18. In utero sonographic diagnosis of a communicating enteric duplication cyst in a giant omphalocele.

    Enteric duplications are rare lesions, and relatively few cases have been diagnosed prenatally. We present, to our knowledge, the first case of an associated communicating ileal duplication cyst in a huge omphalocele diagnosed prenatally. The prenatal ultrasound findings revealed four features of the cystic lesion including peristaltic movements of the cystic wall, communication between the cyst and normal bowel lumen, intra-cystic echogenic contents, and echogenic mesenteric tissue (fat) close to the cyst. These distinct characteristics helped us to make a firm in utero diagnosis.
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5/18. prenatal diagnosis of ventriculocoronary arterial fistula in a fetus with hypoplastic left heart syndrome and aortic atresia.

    In a fetus with a hypoplastic left heart syndrome detected at 26 weeks' gestation, a communication between the left ventricular cavity and the left coronary artery was detected using color Doppler. Bidirectional flow was demonstrated and the ventricle was shown to be filled via the fistula during diastole. After premature birth at 31 weeks and neonatal death, autopsy confirmed the findings. Because the association of a heart defect with ventriculocoronary communications worsens the neonatal prognosis, it should be ruled out in fetuses with hypoplastic left heart syndrome before parents are counseled.
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6/18. urinary tract infection in infants in spite of prenatal diagnosis of hydronephrosis.

    The efficacy of preventing neonatal urinary infection in infants by diagnosing hydronephrosis in the fetus on obstetrical ultrasonography was studied. 426 infants had uroradiologic evaluation between 1984 and June 1991 because they had hydronephrosis detected in utero. Thirteen with posterior urethral valves were excluded. Of the remaining 413, 13 (3.1%) presented with urinary infection in the first 6 months of life. Ten of the 13 were boys and 7 were not circumcised. Eleven of the 13 infants less than 2 months old were formula-fed. The causes of hydronephrosis were reflux alone in 6, ureteropelvic junction obstruction in 6 (with coexisting ipsilateral reflux in 4), and primary megaureter in 1. ultrasonography alone was insufficient to exclude reflux. amoxicillin-resistant bacteria were the causative organisms in all 10 for whom bacteriology data was available. Four categories of management failure were identified: 1) failure of communication of the prenatal findings, 2) antibiotics not prescribed, 3) antibiotics prescribed but not administered, and 4) infection in spite of continuous antibiotic prophylaxis. Uncircumcised formula-fed male infants with reflux seemed to be at special risk for infection.
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7/18. oligohydramnios and megacolon in a fetus with vesicorectal fistula and anal-urethral atresia: a case report.

    Severe oligohydramnios and extremely dilated bowel filled with hyperechogenic material floating in fluid were the ultrasonographic findings in a fetus at 27 weeks' gestation. Vesicorectal communication and urethral-anal atresia permitted urine to empty into the colon, causing megacolon, oligohydramnios, and markedly increased intraabdominal pressure resulting in pulmonary hypoplasia.
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8/18. Early sonographic diagnosis of fetal cystic hygroma colli.

    Fetal cystic hygroma colli (FCHC) is a congenital malformation of the lymphatic system which develops as a result of failure of the communication between the jugular lymphatic canal and the internal jugular vein. The diagnosis is usually made by ultrasound in the second trimester of pregnancy by the demonstration of a multiseptate, thin-walled cystic mass appearing posterolaterally in position to the fetal head and neck region. In this report we present two cases of FCHC diagnosed by transabdominal ultrasound in the first trimester of pregnancy. In one case, chorionic villus sampling revealed a 45,X karyotype, the fetus became progressively hydropic and died at 15 1/2 weeks. In the other, the spontaneous resolution of a nonseptated FCHC in a fetus with normal karyotype was documented, resulting in the delivery of a healthy infant a term. Fetal karyotyping, a careful search for other anomalies that may affect fetal survival, and a close sonographic follow-up in cases of FCHC are advocated for an accurate diagnosis and genetic counselling.
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9/18. Sirenomelia with radial dysplasia.

    Sirenomelia is a rare anomaly usually associated with other multiple malformations. In this communication the authors report a case of sirenomelia associated with multiple malformations, which include radial hypoplasia also. Though several theories have been proposed regarding the etiology of multiple malformation syndromes in the past, the recent theory of primary developmental defect during blastogenesis holds good in this case.
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10/18. In utero cardiac fetal surgery: laser atrial septotomy in the treatment of hypoplastic left heart syndrome with intact atrial septum.

    OBJECTIVE: The purpose of this study was to report a novel technique, laser atrial septotomy, for the in utero treatment of hypoplastic left heart syndrome with intact atrial septum. STUDY DESIGN: In utero atrial septotomy by neodymium-YAG laser photofulguration in a fetus with hypoplastic left heart syndrome (HLHS) and intact atrial septum was performed at 30 4/7 weeks of gestation. Percutaneous fetal cardiocentesis was performed to guide a contact (neodymium-YAG) laser fiber into the right atrium with the objective of creating an interatrial communication by photofulguration of the septal tissue. RESULTS: New onset of blood flow from the left to the right atrium was confirmed by color Doppler imaging during the procedure. The neoatrial septal defect remained patent until delivery. A 3400-g neonate was born by spontaneous vaginal delivery at 37 weeks of gestation. A first stage Norwood procedure was performed on the first day of life and surgical correction of an obstructed right pulmonary vein at 3 months. Although pulmonary vascular resistance was normal at cardiac catheterization at 2 months of age, the infant died at 5 months of age from multiple organ failure. An autopsy was declined. CONCLUSION: In utero laser atrial septotomy is feasible. Further experience is necessary to determine the risks and benefits of this technique for the treatment of fetuses hypoplastic left heart syndrome with intact atrial septum.
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