Molecular Cytogenetics, 2019 Background 46,XX male syndrome is a rare disorder that usually causes infertility. This study was established to identify the genetic causes of this condition in a series of 46,XX males through the combined application of cytogenetic and molecular ...
Fagui Yue +6 more
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Costs and Benefits of Prenatal Screening For Cystic Fibrosis [PDF]
Newly-developed genetic tests based on restriction fragment length polymorphisms (RFLPs) promise to facilitate the early detection of genetic diseases. Several such tests are now available for the prenatal detection of cystic fibrosis (CF), a common and ...
Alan M. Garber, Joseph P. Fenerty
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International Society for Prenatal Diagnosis 2024 Debate 3—Cytogenetics Is a Dinosaur and Should Be Replaced by Molecular Technologies [PDF]
Cytogenetic technologies such as G-banding chromosome and FISH analyses have long been the gold standard diagnostic test in prenatal genetic testing. However, unbiased next-generation sequencing technologies such as fetal exome or genome sequencing (ES ...
Akkari, Yassmine M. N. +2 more
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Pregnant women's and their partners' perception of an information model on prenatal screening [PDF]
, 2012 Objective: Extended verbal information on prenatal screening was given when combined ultrasound and biochemistry screening test was offered at Örebro County Council, Sweden, in 2008. The aim of this study was to describe pregnant women's and her partners'
Wätterbjörk, Inger, +3 more
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Taiwanese Journal of Obstetrics & Gynecology, 2016 Objective: The aim of this report is to describe the phenotype-genotype correlation of chromosome 9p deletion syndrome cases, particularly the prenatal cases.
Qiao-Fang Hou +3 more
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Prenatal diagnosis of hereditary spastic paraplegia [PDF]
, 2001 Hereditary spastic paraplegia (HSP) is a degenerative neurologic disorder that causes progressive, often severe, spastic weakness in the legs. Autosomal dominant HSP is a highly penetrant, genetically heterogeneous disorder with loci present on ...
Rainier, S +6 more
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Prenatal diagnosis of glycogen storage disease type 1b using denaturing high performance liquid chromatography [PDF]
, 2000 Glycogen storage disease type 1b (GSD1b) is an autosomal recessive inborn error of metabolism caused by deficiency of glucose-6-phosphate translocase (G6PT1). Current laboratory diagnosis for GSD1b is established by a functional enzyme assay of glucose-6-
Tong, SF +5 more
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Clinical application value of preconception and prenatal carrier screening in Yinchuan
Frontiers in GeneticsObjectiveTo explore the clinical application value of Expanded Carrier Screening (ECS) in preconception and prenatal populations in Yinchuan.MethodsA total of 1,319 participants underwent ECS, including 1,063 females receiving preconception or prenatal ...
Hua Han +5 more
doaj +1 more source
Dyssegmental dysplasia, Silverman-Handmaker type: prenatal ultrasound findings and molecular analysis. [PDF]
, 2013 OBJECTIVES: The objective of this study is to describe the prenatal sonographic features and the results of DNA analysis on three fetuses with dyssegmental dysplasia, Silverman-Handmaker type (DD-SH). METHODS: A retrospective review of three fetuses with
Chitayat, D. +10 more
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A review of evidence on non-invasive prenatal diagnosis (NIPD) : tests for fetal RHD genotype [PDF]
, 2007 This report concentrates on three main areas. First and foremost, we set the background context for RhD NIPD in prenatal care. While the methodology chapter describes how the literature review was carried out and how additional information was collected,
Clay, Diane +5 more
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