Results 91 to 100 of about 147,199 (219)

SVseq discloses the genomic complexity of different prenatal, de novo, apparently balanced chromosome rearrangements detected by CMA and karyotype

Italian Journal of Pediatrics
Background Balanced chromosomal rearrangements (BCRs) are common structural variations (SVs), but only a small number of individuals with BCRs exhibit abnormalities. To better understand the different phenotypes in children diagnosed with BCRs during the
Shengfang Qin, Xueyan Wang, Chun Chen, Jin Wang, Zhuo Zhang, Yan Yin, Xiangyou Leng   +6 more
doaj   +1 more source

Recognising Complexity and Contradiction: Prenatal Genetic Diagnosis [PDF]

, 2004
Twenty women, who had experienced pregnancy and birth when aged 35 or over,  were interviewed in relation to prenatal genetic testing. Foucauldian discourse  analysis of the interview texts revealed a particular subjectivity for the woman or  the baby ...
Deborah Payne
core  

Prenatal diagnosis and in utero treatment of congenital adrenal hyperplasia: An up-to-date comprehensive review [PDF]

Congenital adrenal hyperplasia (CAH) is a term that encompasses a wide range of conditions that affect the adrenals. Diagnosis and treatment before birth are important as irreparable birth defects can be avoided, decreasing the need for surgical ...
Ruano, Rodrigo, Okpaise, Oluwateniayo O., Ahn, Hyunyoung, Tonni, Gabriele   +3 more
core   +1 more source

Prenatal Diagnosis and Genetic Analysis of Type I and Type Ii Thanatophoric Dysplasia [PDF]

, 2009
Thanatophoric dysplasia (TD) is one of the most common neonatal lethal skeletal dysplasias. Prenatal sonographic and molecular genetic diagnoses of three cases of TD type I( TD1) and one case of TD type II (TD2) are presented here.
CHEN, CHIH-PING;CHERN, SCHU-RERN;SHIH, JIN-CHUNG;WANG, WAYSEEN;CHANG, TUNG-YAO;TZEN, CHIN-YUAN, 陳持平;陳樹人;施景中;王偉信;張東耀;曾岐元   +1 more
core  

Prenatal diagnosis and molecular cytogenetic characterization of fetuses with central nervous system anomalies using chromosomal microarray analysis: a seven-year single-center retrospective study

Scientific Reports
Few existing reports have investigated the copy number variants (CNVs) in fetuses with central nervous system (CNS) anomalies. To gain further insights into the genotype–phenotype relationship, we conducted chromosomal microarray analysis (CMA) to reveal
Jianlong Zhuang, Na Zhang, Yu’e Chen, Yuying Jiang, Xinying Chen, Wenli Chen, Chunnuan Chen   +6 more
doaj   +1 more source

Metabolic profiling and early prediction models for gestational diabetes mellitus in PCOS and non-PCOS pregnant women

European Journal of Medical Research
Background Gestational diabetes mellitus (GDM) is the most common pregnancy complication, significantly affecting maternal and neonatal health. Polycystic ovary syndrome (PCOS) is a common endocrine disorder characterized by metabolic abnormalities ...
Jin Wang, Can Cui, Fei Hou, Zhiyan Wu, Yingying Peng, Hua Jin   +5 more
doaj   +1 more source

CURRENT PRACTICE OF PRENATAL DIAGNOSIS IN CANADA [PDF]

, 1993
Ch. 1. Prenatal diagnosis in Canada - 1990: a review of genetics centres / John L. Hamerton, Jane A. Evans, and Leonie Stranc -- Ch. 2. An assessment of the readability of patient education materials used by genetic screening clinics / Janis Wood Catano
Canada. Royal Commission on New Reproductive Technologies = Commission royale sur les nouvelles techniques de reproduction
core  

Clinical Application of Noninvasive Prenatal Testing in Singleton Pregnancy with and without in vitro Fertilization: A 6-year Observational Study at a Single Tertiary Center

International Journal of Women's Health
Qian Zhang,* Yuhong Guo,* Bin Liang, Meihuan Chen, Xiaoqing Wu, Na Lin, Hailong Huang, Liangpu Xu Department of Medical Genetic Diagnosis and Therapy Center, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Maternity ...
Zhang Q, Guo Y, Liang B, Chen M, Wu X, Lin N, Huang H, Xu L   +7 more
doaj  

Placental mosaicism in prenatal diagnosis. [PDF]

Med Genet
Döttelmayer P, Fauth C.
europepmc   +1 more source

Prenatal diagnosis – where do we go from here? [PDF]

Med Genet
Fauth C, Verheyen S.
europepmc   +1 more source