Cases reported "Heart Defects, Congenital"

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1/117. trisomy 2 in an acardiac twin in a triplet in-vitro fertilization pregnancy.

    A case is reported of twin reversed arterial perfusion (TRAP) sequence in a triamniotic dichorionic triplet pregnancy conceived by in-vitro fertilization which was diagnosed at 25 weeks of gestation by colour Doppler sonography. It highlights the risk of monochorionicity-associated morbidity in multiple pregnancies obtained by assisted conception and stresses the importance of chorionicity determination by early ultrasound examination. cytogenetic analysis of skin from the acardius showed trisomy 2 in all cells, whereas the karyotype in the monochorionic triplet was normal. This is an example of heterokaryotypic monozygotism where the chromosomal abnormality must have occurred during the early cleavage divisions. aneuploidy as a possible aetiological factor of TRAP sequence is discussed.
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ranking = 1
keywords = trisomy
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2/117. Prenatal findings in trisomy 16q of paternal origin.

    A 34-year-old pregnant woman was referred at 30 weeks of gestation with suspected fetal congenital heart disease. On prenatal ultrasound the following anomalies were detected: intra-uterine growth retardation, micrognathia, coarctation of the aorta with ventricular and atrial septal defects, ambiguous external genitalia, and clinodactyly of one hand with adducted thumb. Prenatal karyotyping was offered but refused by the patient. The fetus was delivered by Caesarean section due to fetal distress at 36 weeks of gestation. The neonate, weighing 2150 g was transferred to the neonatal intensive care unit, where he died 10 days later. The karyotype from peripheral blood lymphocytes was 46,XY der(20)t(16;20)(q12.1;p13)pat. The maternal karyotype was unremarkable, whereas the father had the translocation t(16;20)(q12.1;p13). Necropsy confirmed all the prenatal findings. These are discussed together with the implications of the chromosomal diagnosis and the pertinent literature is reviewed.
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ranking = 4
keywords = trisomy
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3/117. Sonographic features of fetal trisomy 18 at 13 and 14 weeks: four case reports.

    Fetal trisomy 18 is the second most common multiple malformation syndrome. We present four cases of trisomy 18 with multiple sonographic abnormalities at 13 and 14 weeks of gestation. These cases demonstrated that fetal hand deformities can be a tell-tale sign of trisomy 18 with or without increased nuchal translucency at this gestation.
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ranking = 7
keywords = trisomy
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4/117. Double-outlet right ventricle with intact ventricular septum in a foetus with trisomy-18.

    A rare case of double-outlet right ventricle with intact ventricular septum diagnosed by foetal echocardiography at 21 weeks of gestation is described. amniocentesis revealed trisomy-18. The cardiac diagnosis was confirmed at autopsy.
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ranking = 5
keywords = trisomy
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5/117. CHARGE association-related ocular pathology in a newborn with partial trisomy 19q and partial monosomy 21q, from a maternal translocation (19;21) (q13.1;q22.3).

    We report a novel case of partial trisomy 19q and concomitant partial monosomy 21q, segregated from a maternal translocation (19;21) (q13.1;q22.3), identified by spectral karyotyping. Clinical examination revealed dysmorphic features of the face and limbs, cleft palate, bilateral colobomas with associated bilateral colobomatous optic nerve cysts, hearing loss, and a cardiac anomaly. At autopsy, the dysmorphic features and cleft palate were confirmed. The ocular histopathology is described in detail and the cardiac anomaly was further specified. The combination of phenotype features is diagnostic of the CHARGE (coloboma, heart malformation, atresia choanae, retarded growth and development, and/or CNS anomalies, genital hypoplasia, ear anomalies and/or deafness) association. This case also has some phenotypic features in common with previous cases of partial trisomy 19q. The importance of a complete autopsy in cases with multiple congenital anomalies and/or genetic abnormalities is emphasized. This will allow optimal genetic counseling and contribute to our understanding of developmental biology.
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ranking = 14.122269463607
keywords = partial trisomy, trisomy
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6/117. Acardiac twin pregnancy: associated with trisomy 2: case report.

    Acardiac anomaly is a rare complication of multiple pregnancies. Arterial-to-arterial vascular anastomoses between twins, in the presence of a fused placenta, develop in the first trimester. Consequently the pump twin provides the acardius with blood. The second case of acardiac twin pregnancy with cytogenetic analysis of the acardiac showing the karyotype 47,XX, 2 is presented. literature of acardiac twin pregnancies with different cytogenetic results and cases with trisomy 2 are reviewed, and a hypothesis of genesis is put forward.
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ranking = 5
keywords = trisomy
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7/117. Interstitial tandem duplication of 6p: a case with partial trisomy (6)(p12p21.3).

    A de novo interstitial tandem duplication of 6p12p21.3 was observed in a 7-month-old boy with growth retardation, psychomotor delay and craniofacial, brain, limb, and genital anomalies. Fluorescent in situ hybridization using a chromosome 6 paint probe demonstrated that the extra material belonged to chromosome 6. Although it has been suggested that 6p25 is the critical band involved in the expression of the phenotype of 6p duplication, comparison of the clinical findings of this case with those from the literature cases showed strong similarities.
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ranking = 9.414846309071
keywords = partial trisomy, trisomy
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8/117. Reversed diastolic umbilical artery flow in the first trimester associated with chromosomal fetal abnormalities or cardiac defects.

    BACKGROUND: Six cases have been reported of reversed end-diastolic umbilical artery (UA) blood flow at 10-14 weeks' gestation. Four were associated with chromosomal anomalies, and one showed congenital heart disease. CASES: This report describes two cases of reversed end-diastolic UA flow at 10 and 12 weeks' gestation with increased nuchal translucency in which cytogenetic analysis by chorionic villus sampling showed triploidy (69,XXX) and trisomy 9, respectively. In second case, the fetus had a ventricular septal defect. CONCLUSION: Reversed end-diastolic UA flow in the first trimester might be an important sign of chromosomal abnormalities in early pregnancy and might be a useful signal for the diagnosis of early cardiac defects.
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ranking = 1
keywords = trisomy
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9/117. trisomy 19 q.

    Two sibs with trisomy for the long arm of chromosome 19 are reported. The common features included flat facial profile with microcephaly, hypertelorism, ptosis, prominence of the glabella, small nose with anteverted nostrils and a characteristic fish-shaped mouth. In addition congenital heart disease, physical retardation and seizures were seen in both sibs. That tristomy 19q can be suspected clinically is emphasized.
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ranking = 1
keywords = trisomy
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10/117. prenatal diagnosis of a partial trisomy 19q.

    Phenotypic anomalies due to a genetic imbalance of chromosome 19 have been reported in very rare postnatal cases. Here a case of partial trisomy 19 diagnosed prenatally by ultrasonography and cytogenetic analysis is presented. Detailed evaluation by sonography showed major anomalies which could be correlated to the typical appearance of this chromosomal anomaly. Termination of pregnancy at 21 weeks of gestation was performed, and the prenatal diagnosis was confirmed postnatally by autopsy. The syndrome in this case was caused by a duplication of the long arm of chromosome 19 (46,XY, dup(19) (q13.1-->qter).
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ranking = 11.768557886339
keywords = partial trisomy, trisomy
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