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Dictionnaire français - anglais

Recent advances in prenatal genetic screening and testing [version 1; referees: 3 approved]... More recently introduced technologies such as chromosomal microarray analysis and whole-exome sequencing can diagnose more genetic conditions on samples obtained through amniocentesis or chorionic villus sampling, including many disorders that cannot be screened for non-invasively....

santé / transports aérien et spatial - core.ac.uk - PDF: doaj.org

Prenatal diagnosisof genetic disorders:trials and tribulations... Additional Keyphrases amniocentesis #{149} karo-typing #{149} genetic counseling #{149} Tay-Sachs disease hexosaminidase #{149} cystic fibrosis #{149} melachromatic leukodystrophy #{149} cell culture...

PDF: www.clinchem.org

Molecular genetic characterization of a prenatally detected de novo interstitial deletion of chromosome 20p (20p12-p13) encompassing jag1 and a literature review of prenatal diagnosis of alagille syndrome...(ALGS).Case report: A 33-year-old woman underwent amniocentesis at 17 weeks of gestation because of an abnormal result of combined first-trimester screening....

PDF: doaj.org

Second trimester genetic amniocentesis at secondary center hospital in southern thailandObjectives: To evaluate the complications and outcomes of second trimester genetic amniocentesis in singleton pregnancy for prenatal diagnosis at secondary center hospital in Southern Thailand.Materials...

PDF: doaj.org

Publications scientifiques

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Detection of maternal transmission of a splicing mutation in the tsc2 gene following prenatal diagnosis of fetal cardiac rhabdomyomas mimicking congenital cystic adenomatoid malformation of the lung and cerebral tubers and awareness of a family history of maternal epilepsy ...(TSC).Case ReportA 29-year-old woman was referred to our institution for amniocentesis at 24 weeks of gestation because of congenital anomaly....

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