scholarly journals Decision to abort after a prenatal diagnosis of sex chromosome abnormality: a systematic review of the literature

2011 ◽  
Vol 14 (1) ◽  
pp. 27-38 ◽  
Author(s):  
Kwon Chan Jeon ◽  
Lei-Shih Chen ◽  
Patricia Goodson
Author(s):  
Andrés Mauricio Camacho Montaño ◽  
Reinaldo Child Alba Reinaldo ◽  
María Camila Cetina Grajales

Objetives: To report a case of dorsolumbosacral agenesis and to make a systematic review of the literature focused on prenatal diagnosis. Materials and methods: We report a case of a 32year old pregnant woman, with a 30 week pregnanacy, without prenatal care, the fetus is diagnosed with dorsolumbosacral agenesis. The mother request voluntary termination of pregnancy. A systematic review of the literature focused on prenatal diagnosis of thos condiction is performed. Results: We found 50 papers, 6 met the inclusión critiria. Three of them with prenatal diagnosis. In the first case the diagnosis was made at 13 weeks of gestation and termination of preganancy was requested. In the second case corresponded an biamniotic bicorial twin preganancy. One normal feto and one presented dorsolumbosacral agenesis. The diagnosis was made in the second trimester. The pregnancy continued until 34 week of gestation and the affected neonate had perinatal death. The third case, the diagnosis was made at 18 weeks and a male newborn of 2990gr was born at 37 weeks of gestation. Conclusion: Dorsolumbosacral agenesis is a very severe form of caudal regresión syndrome, with only a few cases reportted in the literature. To the best of our knowladge this is the fourth case reported with prenatal diagnosis.


PEDIATRICS ◽  
1967 ◽  
Vol 40 (4) ◽  
pp. 575-585
Author(s):  
Pierre E. Ferrier ◽  
Simone A. Ferrier

The clinical and laboratory findings in four males with the Turner's phenotype are reported. Three of the four patients had some evidence of testicular deficiency. Biopsy in one instance revealed abnormal spermatogenesis, thickening of the tubular basement membrane, interstitial fibrosis, and absence of Leydig cells. The dermatoglyphic findings in three of the four patients were in keeping with those previously reported in females with Turner's syndrome. No chromosome abnormality could be demonstrated, and extensive cytological investigations in one patient failed to produce evidence of sex chromosome mosaicism. Review of the literature suggests that only in a few cases is the Turner's phenotype in the male connected with a sex chromosome aberration. The majority of cases occur sporadically and only exceptionally can a genetic transmission be suspected.


2016 ◽  
Vol 44 (4) ◽  
Author(s):  
Ning Liu ◽  
Xiang-dong Kong ◽  
Quan-cheng Kan ◽  
Hui-rong Shi ◽  
Qing-hua Wu ◽  
...  

AbstractSuccinic semialdehyde dehydrogenase (SSADH) deficiency is a neurometabolic disease in which the degradation of γ-aminobutyric acid (GABA) is impaired. The purpose of this study was to report two novelGenetic analysis ofTwo novel


2012 ◽  
Vol 94 (11) ◽  
pp. 857-863 ◽  
Author(s):  
Candice Y. Johnson ◽  
Margaret A. Honein ◽  
W. Dana Flanders ◽  
Penelope P. Howards ◽  
Godfrey P. Oakley ◽  
...  

2015 ◽  
Vol 2015 ◽  
pp. 1-11 ◽  
Author(s):  
Raquel Garcia Rodriguez ◽  
Azahara Rodriguez Guedes ◽  
Raquel Garcia Delgado ◽  
Lourdes Roldan Gutierrez ◽  
Margarita Medina Castellano ◽  
...  

Cardiac diverticulum is a rare anomaly, which may present in association with pericardial effusion. Only few cases diagnosed during fetal life have been published and only in 12 cases pericardiocentesis was made with good postnatal outcomes in 83% of the cases. In the first trimester of pregnancy only 6 cases were reported. We described the largest series of cases published. We describe a case of cardiac diverticulum complicated with pericardial effusion during the first trimester of pregnancy and resolved by intrauterine pericardiocentesis at 17 weeks of pregnancy. We made a systematic review of the literature with the cases reported of cardiac diverticulum, management, and outcomes.


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