Results 31 to 40 of about 147,199 (219)

Prenatal diagnosis of Myhre syndrome with a heterozygous pathogenic variant in SMAD4 gene presented with thick nuchal translucency and cardiac abnormalities [PDF]

, 2023
Prenatal testing was performed in a 39-year-old Chinese pregnant woman referred for increased nuchal translucency measuring 5.7 mm. Non-invasive prenatal testing and SNP array study on amniotic fluid samples were normal.
Luk, HM, Hui, PW, Lau, EYT, Mok, YK, Au, SLK, Chung, B, Kan, ASY   +6 more
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The Italian guidelines on non-invasive and invasive prenatal diagnosis: Executive summary of recommendations for practice the Italian Society for Obstetrics and Gynecology (SIGO) [PDF]

The Italian guidelines on non-invasive and invasive prenatal diagnosis: Executive summary of recommendations for practice the Italian Society for Obstetrics and Gynecology ...
Elvira Di Pasquo, Working Group on Non-invasive Prenatal Diagnosis, Chiara Formigoni, Marco De Santis, Working Group on Invasive Prenatal Diagnosis, Working Group Secretariat, Tiziana Frusca, Maurizio Guido, Tamara Stampalija, Moira Barbieri, Panel of Experts Delegated by Scientific Societies and Stakeholders, Promoting Committee, External Auditors, Tullio Ghi, Enrico M Ferrazzi, M Morlando, Chair and Methodological Group   +16 more
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Prenatal phenotype of Kabuki syndrome: A case series and literature review [PDF]

, 2021
Objectives: Kabuki syndrome (KS) is a genetic disorder characterized by intellectual disability, facial dysmorphism and congenital anomalies. We aim to investigate the prenatal features of fetuses with KS and to provide a comprehensive review of the ...
Luk, HM, Cheung, KW, Lok, WY, Hau, EW.L., Ho, S, Yu, KPT, Mak, SLA, Chung, MY, Hui, W, Lam, ST.S., So, PL, Cheng, SS.W., Lo, IF.M.   +12 more
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Prenatal diagnosis of rearrangements in the fetal 22q11.2 region

Molecular Cytogenetics, 2020
Background 22q11.2 deletion syndrome (22q11.2DS) and 22q11.2 duplication syndrome (22q11.2DupS) are the most common copy number variations in humans. The clinical phenotypes of these two syndromes are variable, and there are no large sample data on the ...
Suping Li, Yuxia Jin, Jing Yang, Li Yang, Ping Tang, Chiyan Zhou, Liping Wu, Jinhua Dong, Jie Chen, Huaxiang Shen   +9 more
doaj   +1 more source

Attitudes toward prenatal diagnosis and termination of pregnancy in Saudi Arabia [PDF]

, 2004
INTRODUCTION: Advances in molecular biology will soon make it possible to offer parents prenatal testing for a large number of different genetic disorders.
Alsulaiman, Ayman
core  

Unveiling Hidden Genetic Architectures: Molecular Diagnostic Yield of Whole Exome Sequencing in 50 Children With Autism Spectrum Disorder Negative for Copy Number Variations

Genetics Research
Autism spectrum disorders (ASDs) are heterogeneous neurodevelopmental conditions with complex genetic etiologies. Recent advances in whole exome sequencing (WES) have enabled comprehensive detection of clinically relevant variants, particularly single ...
Zhiwei Wang, Yali Zhao, Shuting Yang, Yongan Wang, Leilei Wang   +4 more
doaj   +1 more source

Case Report: Exome Sequencing Identified a Novel Compound Heterozygous Variation in PLOD2 Causing Bruck Syndrome Type 2

Frontiers in Genetics, 2021
Bruck Syndrome (BRKS) is a rare type of recessive osteogenesis imperfecta (OI) and consists of two subtypes, BRKS1 and BRKS2, which are caused by variations in FKBP10 and PLOD2 genes, respectively.
Jing Zhang, Huaying Hu, Huaying Hu, Weihong Mu, Mei Yu, Wenqi Chen, Dongqing Mi, Kai Yang, Qing Guo   +8 more
doaj   +1 more source

Prenatal diagnosis and long term follow up of a patient with mosaic variegated aneuploidy and its molecular analysis [PDF]

, 2018
Objectives: Mosaic variegated aneuploidy (MVA) is a recessive condition characterized by mosaic aneuploidies, predominantly trisomies and monosomies, involving multiple chromosomes and tissues.
Leung, WC, Luk, HM, Lin, SM, Tang, MHY, Chan, KYK, Tse, HY, Kan, SYA, Tam, WK   +7 more
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Prenatal diagnosis and investigation of a fetus with chondrodysplasia punctata, ichthyosis, and Kallmann syndrome due to an Xp deletion [PDF]

, 1992
We report the prenatal diagnosis of a male fetus with X-linked recessive chondrodysplasia punctata (CDPX), steroid sulphatase (STS) deficiency, X-linked Kallmann syndrome (KAL), and a chromosome deletion at Xp22.31. Biochemical analysis of bone from this
Moore, C. M., Campbell, L., Robert W. Huff, Huff, R. W., Larry J. Shapiro, Bick, D. P., Price, P. A., David P. Bick, Shapiro, L. J., Leslie Campbell, Daniel F. Schorderet, Paul A. Price, Charleen M. Moore, Schorderet, D. F.   +13 more
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Congenital heart anomalies in the first trimester: From screening to diagnosis [PDF]

, 2023
Congenital heart defects occur in approximately 1% of liveborn children and represent the most common form of congenital malformation. Due to the small size and complexity of the heart structures, prenatal diagnosis is most often made in the second ...
Simon Meagher, Meagher, S., Eperon, I., Wawrzyniec Rieder, Isabelle Eperon, Rieder, W.   +5 more
core   +1 more source