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Prenatal Cases (prenatal + case)
Selected AbstractsDe novo monosomy 9p24.3-pter and trisomy 17q24.3-qter characterised by microarray comparative genomic hybridisation in a fetus with an increased nuchal translucencyPRENATAL DIAGNOSIS, Issue 3 2006Sophie Brisset Abstract Objectives Increased nuchal translucency (NT) during the first trimester of pregnancy is a useful marker to detect chromosomal abnormalities. Here, we report a prenatal case with molecular cytogenetic characterisation of an abnormal derivative chromosome 9 identified through NT. Methods Amniocentesis was performed because of an increased NT (4.4 mm) and showed an abnormal de novo 46,XX,add(9)(p24.3) karyotype. To characterise the origin of the small additional material on 9p, we performed a microarray comparative genomic hybridisation (microarray CGH) using a genomic DNA array providing an average of 1 Mb resolution. Results Microarray CGH showed a deletion of distal 9p and a trisomy of distal 17q. These results were confirmed by FISH analyses. Microarray CGH provided accurate information on the breakpoint regions and the size of both distal 9p deletion and distal 17q trisomy. The fetus was therefore a carrier of a de novo derivative chromosome 9 arising from a t(9;17)(p24.3;q24.3) translocation and generating a monosomy 9p24.3-pter and a trisomy 17q24.3-qter. Conclusion This case illustrates that microarray CGH is a rapid, powerful and sensitive technology to identify small de novo unbalanced chromosomal abnormalities and can be applied in prenatal diagnosis. Copyright © 2006 John Wiley & Sons, Ltd. [source] Prenatal diagnosis of Juberg,Hayward syndromePRENATAL DIAGNOSIS, Issue 2 2005Stéphanie Couvreur-Lionnais Abstract Juberg,Hayward syndrome is a rare autosomal recessive syndrome characterised by the association of growth retardation, microcephaly, cleft lip and palate, and thumb and radial ray abnormalities. To date, no prenatal cases have been reported. Here, we report on the first prenatal case of Juberg,Hayward syndrome. The diagnosis was established following fetopathological study. Besides the cardinal features of the syndrome, this prenatal case was remarkable for the severity of the short arm malformation and by the finding of big toe agenesis and cerebral abnormalities including hydrocephalus, agenesis of corpus callosum, and cerebellar hypoplasia. We conclude that the diagnosis of Juberg,Hayward syndrome can be discussed prenatally following ultrasound diagnosis of the association of intrauterine growth restriction, microcephaly, thumb/radial anomalies, and cleft lip/palate. Copyright © 2005 John Wiley & Sons, Ltd. [source] Isolated levocardia: Prenatal diagnosis and managementCONGENITAL ANOMALIES, Issue 2 2009Satoko Katsuya ABSTRACT Isolated levocardia (IL) is a rare condition of situs anomaly in which there is a normal left-sided heart (levocardia) with dextro position of the abdominal viscera. IL has been reported in children and adults with complex cardiac defects, whereas there are only few published reports regarding the prenatal diagnosis of IL. We report two prenatal cases of IL diagnosed by ultrasonography and magnetic resonance imaging (MRI). In both cases, fetal cardiac function remained within the normal range throughout pregnancy, and no treatment for the heart was required after birth. For the dextro position of abdominal viscera, one case was followed without any surgical procedure, but the other case required prophylactic operation due to malrotation of the small intestine. Although the prognosis of IL largely depends on the severity of associated cardiac anomaly, future bowel obstruction caused by intestinal malrotation may also be life-threatening. In this respect, prenatal diagnosis of IL is important, even when there is no associated cardiac structural anomaly. If IL is suspected in routine fetal ultrasonography, MRI may be recommended to obtain more detailed information on the anatomy of abdominal viscerae, and careful observation for bowel problems is required, especially after oral nutrition is started. [source] Histology of the fetal prune belly syndrome with reference to the efficacy of prenatal decompressionINTERNATIONAL JOURNAL OF UROLOGY, Issue 5 2000Kenji Shimada Abstract Background: Deficient abdominal musculature, complex abnormalities of urinary tracts and bilateral abdominal cryptorchidism represent the basic characteristics of prune belly syndrome (PBS). Although prenatal diagnosis of PBS is rarely made, because of the wide variety of ultrasonographic images, reported cases have gradually increased. Once a fetus suspected of having PBS is found, it is sometimes difficult for the pediatric urologists to decide how to treat them. The histology of the kidney and urinary tracts in fetuses with PBS was reviewed in order to give suggestions on the management of prenatal cases. Methods: Autopsy records of nine fetuses (5 males, 2 females and 2 undetermined) with characteristically distended and deficient abdominal wall were reviewed. Gestational age (GA) at detection ranged from 12 to 25 weeks and at delivery from 13 to 32 weeks. Results: Renal histology in two fetuses showed earlier than normal disappearance of cortical nephrogenic zone replaced by cortical cysts and dysplastic structures. The nephrogenic zone was retained in five fetuses which were younger than GA 20 weeks. While the number of glomeruli along the medullary ray was normal for the age in three fetuses younger than GA 20 weeks, it was decreased in all others. Bladder histology was variable showing both increased musculature and defective or dysplastic muscles. There was a tendency for connective tissues in the bladder wall to increase in proportion to GA, The ureter revealed scarcity of muscle bundles among dense connective tissue. The urethra was atretic in eight fetuses. Conclusion: The clinical implication from the renal histology is that decompression of the urinary tract should be done before GA 20 weeks. However, the early fetal treatment appears to have no effect on the urodynamics in this disorder with deficient musculature. [source] Hypophosphatasia: molecular testing of 19 prenatal cases and discussion about genetic counseling,PRENATAL DIAGNOSIS, Issue 11 2008Brigitte Simon-Bouy Abstract Objective We studied hypophosphatasia (HP) mutations in 19 cases prenatally detected by ultrasonography without familial history of HP. We correlated the mutations with the reported ultrasound signs, and discussed genetic counseling with regard to the particular dominantly inherited prenatal benign form of HP. Method The coding sequence of the tissue nonspecific alkaline phosphatase (TNSALP) gene was analyzed by DNA sequencing, and 3D modeling was used to locate the mutated amino acids with regard to the functional domains of TNSALP. Results Although reported ultrasound signs were heterogeneous, two mutated alleles were found in 18 of the 19 cases studied, indicating recessive transmission of the disease. Functional domains of TNSALP were affected by 74% of missense mutations. In all the cases, including one with only a heterozygous mutation, molecular, biological, and familial data do not corroborate the hypothesis of prenatal benign HP. The mutation c.1133A > T observed in the prenatal benign form of HP and common in USA was not found in this series. Conclusion The results point out the prenatally detectable allelic heterogeneity of HP. The nature of the detected mutations and the evidence of recessive inheritance do not support these cases being affected with prenatal benign HP. Copyright © 2008 John Wiley & Sons, Ltd. [source] Comparison of microarray-based detection rates for cytogenetic abnormalities in prenatal and neonatal specimensPRENATAL DIAGNOSIS, Issue 9 2008Lisa G. Shaffer Abstract Objective To compare the detection rate by microarray analysis for chromosome abnormalities in a prenatal population to that of a neonatal population referred for diagnostic testing. Methods Array comparative genomic hybridization (aCGH) analysis was performed for 151 prenatal cases and compared with the results from 1375 postnatal cases less than 3 months of age. Results Two of 151 prenatal cases (1.3%) showed a clinically significant cytogenetic abnormality. In contrast, of the 1375 postnatal cases studied, 11.4% showed a cytogenetic abnormality by aCGH. Many of these (40%) were referred for aCGH because of dysmorphic features, a clinical indication unlikely to be identified in the prenatal population. Conclusions The chance of detecting a chromosome abnormality in a prenatal population that has already been screened by routine cytogenetics is ,1.3%. However, given that many of the abnormal array results in the neonatal population were among those with dysmorphic features as the primary indication for testing, which are not easily identifiable by ultrasound, offering prenatal testing by aCGH to a wider population would likely result in a higher detection rate. Copyright © 2008 John Wiley & Sons, Ltd. [source] Prenatal diagnosis of Juberg,Hayward syndromePRENATAL DIAGNOSIS, Issue 2 2005Stéphanie Couvreur-Lionnais Abstract Juberg,Hayward syndrome is a rare autosomal recessive syndrome characterised by the association of growth retardation, microcephaly, cleft lip and palate, and thumb and radial ray abnormalities. To date, no prenatal cases have been reported. Here, we report on the first prenatal case of Juberg,Hayward syndrome. The diagnosis was established following fetopathological study. Besides the cardinal features of the syndrome, this prenatal case was remarkable for the severity of the short arm malformation and by the finding of big toe agenesis and cerebral abnormalities including hydrocephalus, agenesis of corpus callosum, and cerebellar hypoplasia. We conclude that the diagnosis of Juberg,Hayward syndrome can be discussed prenatally following ultrasound diagnosis of the association of intrauterine growth restriction, microcephaly, thumb/radial anomalies, and cleft lip/palate. Copyright © 2005 John Wiley & Sons, Ltd. [source] | ||||||||||