Cases reported "Fetal Diseases"

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1/218. Early prenatal diagnosis of cord entanglement in monoamniotic multiple pregnancies.

    OBJECTIVES: Cord entanglement is a severe complication in monoamniotic multiple pregnancies. Three cases were reviewed to determine how early ultrasound diagnosis might improve counselling and management. methods: In two monoamniotic twin and one dichorionic diamniotic triplet pregnancies, cord entanglement was detected between 10 and 18 gestational weeks by color Doppler and pulsed Doppler velocimetry. Pregnancies were followed up on a weekly basis with special observation of fetal behavior and use of color Doppler velocimetry. RESULTS: In Case 1, a monoamniotic twin pregnancy with cord entanglement close to the umbilical insertions was diagnosed at 10 weeks. Longitudinal follow-up showed intrauterine death of both twins at 15 weeks. In Case 2, entanglement of the umbilical cords of two monoamniotic triplets within a dichorionic diamniotic triplet pregnancy was diagnosed at 10 weeks. The pregnancy continued uneventfully until 35 weeks when cord entanglement was confirmed at cesarean section. All triplets have since developed normally. In Case 3, monoamniotic twins were diagnosed at 18 weeks. color Doppler detected side-by-side insertion of the umbilical cords and Doppler velocimetry suggested an entanglement at the chorionic plate. The pregnancy was complicated by polyhydramnios. cesarean section at 36 weeks confirmed cord entanglement at the chorionic plate. Postnatal computer angiography and morphological examination of the placenta showed the presence of superficial artery-to-artery and vein-to-vein anastomoses and of deep arteriovenous shunts. The development of the twins was uneventful. CONCLUSIONS: Diagnosis of cord entanglement is feasible early in gestation. Future protocols are proposed to document the gestational age at detection, the location, and the Doppler flow patterns and to facilitate the assessment of short- and long-term development.
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2/218. Progressive disease of the atrioventricular conduction axis in an infant of an anti-Ro positive mother.

    A child of a mother with maternal anti-Ro and anti-La antibodies presented antenatally with abnormal myocardial function, and was found to have a first degree heart block at birth. The extent of the abnormality in the conduction system progressed, with appearance of left bundle branch block in addition to further prolongation of PR interval. A pacemaker was implanted prophylactically, but patient has remained well, with no further deterioration in her atrioventricular conduction.
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3/218. Fetal trisomy 10 mosaicism: ultrasound, cytogenetic and morphologic findings in early pregnancy.

    We report the ultrasound, cytogenetic and morphologic findings in a case of trisomy 10 mosaicism prenatally detected by chorionic villus sampling (CVS). CVS sampling was carried out at the 13th week of gestation because of ultrasound diagnosis of hydrops fetalis and hygroma colli. trisomy 10 mosaicism was diagnosed in cells from the cytotrophoblast (short-term culture) and the chorionic villus core (long-term culture). Fetal mosaicism was confirmed after termination of pregnancy in umbilical cord cells, placenta and fetal skin fibroblasts.
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4/218. Fetal cataract in congenital toxoplasmosis.

    We report a case of the prenatal diagnosis of fetal cataract due to congenital toxoplasmosis. To the best of our knowledge, this is the first report of such a case. We discuss the long-term ocular sequelae of the condition and how they should affect prenatal counselling.
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5/218. Massive fetomaternal hemorrhage: how long should children with good evolution be controlled? A case report.

    We report on a term infant with a severe fetomaternal hemorrhage that caused a serious anemia that was surmounted after several transfusions. After the initial complications, such as persistent pulmonary circulation, severe anemia and thrombocytopenia, the outcome was good. We discuss the importance of a long-term follow-up of affected children, as well as their mothers. No clear parameters for a real prognosis are available. A follow-up is needed in order to detect possible complications in neurological development.
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6/218. Prolonged intestinal exposure to amniotic fluid does not result in peel formation in gastroschisis.

    The etiology of bowel wall changes in infants with gastroschisis remains unknown. Currently, debate focuses on the relative roles of amniotic fluid exposure versus that of intestinal ischemia. The authors report five cases of prenatally diagnosed gastroschisis in which the bowel was exposed to amniotic fluid for up to 21.3 weeks without developing any visible intestinal peel. These cases appear to minimize the role of prolonged amniotic fluid exposure in the development of bowel wall changes in gastroschisis.
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7/218. prenatal diagnosis of long qt syndrome using fetal magnetocardiography.

    We describe the detection of congenital long qt syndrome in a fetus at 37 weeks' gestation using magnetocardiography (MCG). The prenatal diagnosis was confirmed by standard electrocardiography (ECG) performed after birth. This is the first case report of fetal long qt syndrome detected by MCG. Fetal MCG may be useful in the prenatal diagnosis of congenital cardiac disease with abnormal ECG findings.
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8/218. A variant of long qt syndrome manifested as fetal tachycardia and associated with ventricular septal defect.

    Two patients with a novel variant of long qt syndrome are described. The clinical course was characterised by an in utero onset of ventricular tachycardia and atrioventricular block (at 26 and 30 weeks' gestational age, respectively), and an association with a ventricular septal defect. Studies of both patients' families identified relatives with prolonged QT interval, syncope, or sudden death. One patient died of intractable ventricular tachycardia at 4 days old. The other received beta blocker treatment and a pacemaker. She died suddenly at the age of 10 months. The unique association with ventricular septal defect and the malignant clinical course warrants further molecular diagnosis of this novel variant of long qt syndrome.
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9/218. fetus with long qt syndrome manifested by tachyarrhythmia: a case report.

    We encountered a fetus who exhibited transient (at most 30 s), repeated episodes of tachyarrhythmia (240 bpm). This female neonate was born at 36 weeks of gestation and showed a markedly prolonged QT interval and transient, repeated episodes of polymorphic ventricular tachycardia. Congenital long qt syndrome was diagnosed. Retrospective analysis of the videotape showing fetal cardiac movement revealed that atrio-ventricular dissociation was present prenatally and thus, the fetal tachyarrhythmia was due to ventricular tachycardia. To our knowledge, there are few reports of a fetus with the long qt syndrome who exhibited ventricular tachycardia in utero. In the presence of unexplained fetal tachyarrhythmia, long QT syndrome should be considered as a possible underlying cause disorder. The presence of atrio-ventricular dissociation may be useful in prenatal diagnosis of long qt syndrome.
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10/218. prenatal diagnosis of a fetus with distal 10q trisomy.

    Distal 10q trisomy is a well-defined but rare syndrome. Most cases are diagnosed in infancy or in childhood and rarely include prenatal findings. We present a case of fetal distal 10q trisomy with abnormal prenatal sonographic findings. A 19-year-old primigravida was referred for genetic counselling at 18 gestational weeks because her husband had a familial history of congenital anomalies. Genetic amniocentesis was thus performed and showed fetal distal 10q trisomy (10q24.1-->qter), 46,XX,der(22)t(10;22)(q24.1;p11.2)pat, resulting from paternal t(10;22) reciprocal translocation. Level II ultrasonograms further demonstrated bilateral hydronephrosis, ventricular septal defect and facial dysmorphism ascertained by three-dimensional ultrasound. The pregnancy was terminated at 22 gestational weeks. Post-mortem autopsy confirmed the sonographic findings. We suggest that abnormal prenatal sonographic findings such as cardio-vascular, renal and facial malformations should alert cytogeneticists to search for subtle chromosomal abnormalities.
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