Results 61 to 70 of about 3,897,220 (150)

Chromosomal microarray analysis for prenatal diagnosis of uniparental disomy: a retrospective study

Molecular Cytogenetics
Background Chromosomal microarray analysis (CMA) is a valuable tool in prenatal diagnosis for the detection of chromosome uniparental disomy (UPD).
Chenxia Xu, Miaoyuan Li, Tiancai Gu, Fenghua Xie, Yanfang Zhang, Degang Wang, Jianming Peng   +6 more
doaj   +1 more source

Experiences of prenatal diagnosis and decision‐making about termination of pregnancy: A qualitative study

Australian and New Zealand journal of obstetrics and gynaecology, 2016
Advances in genetic technologies and ultrasound screening techniques have increased the ability to predict and diagnose congenital anomalies during pregnancy.
J. Hodgson, Penelope Pitt, S. Metcalfe, J. Halliday, Melody Menezes, J. Fisher, C. Hickerton, K. Petersen, B. McClaren   +8 more
semanticscholar   +1 more source

Non-invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next-generation sequencing allows for a safer, more accurate, and comprehensive approach

Prenatal Diagnosis, 2015
Accurate prenatal diagnosis of genetic conditions can be challenging and usually requires invasive testing. Here, we demonstrate the potential of next‐generation sequencing (NGS) for the analysis of cell‐free DNA in maternal blood to transform prenatal ...
L. Chitty, S. Mason, A. Barrett, Fiona McKay, N. Lench, R. Daley, L. Jenkins   +6 more
semanticscholar   +1 more source

Prevalence, timing of diagnosis and pregnancy outcome of abdominal wall defects after the introduction of a national prenatal screening program

Prenatal Diagnosis, 2017
To examine prevalence, time of diagnosis and outcome of fetuses with an exomphalos or gastroschisis, diagnosed since the introduction of a national prenatal screening program in 2007.
H. Fleurke-Rozema, K. van de Kamp, M. Bakker, E. Pajkrt, C. Bilardo, R. Snijders   +5 more
semanticscholar   +1 more source

Identification of a novel pathogenic variant in the MYH3 gene in a five‐generation family with CPSFS1A (Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1A)

Molecular Genetics & Genomic Medicine, 2020
Background Distal arthrogryposis (DA) is a group of rare Mendelian conditions that demonstrate heterogeneity with respect to genetics and phenotypes. Ten types of DAs, which collectively involve six genes, have been reported.
Jing Zhang, Wen‐Qi Chen, Si‐Wen Wang, Shao‐Xiong Wang, Mei Yu, Qing Guo, Ya‐Dong Yu   +6 more
doaj   +1 more source

Chromosomal microarray versus karyotyping for prenatal diagnosis.

New England Journal of Medicine, 2012
BACKGROUND Chromosomal microarray analysis has emerged as a primary diagnostic tool for the evaluation of developmental delay and structural malformations in children.
R. Wapner, C. Martin, B. Levy, B. Ballif, C. Eng, J. Zachary, Melissa Savage, L. Platt, D. Saltzman, W. Grobman, S. Klugman, T. Scholl, J. Simpson, K. McCall, V. Aggarwal, B. Bunke, O. Nahum, Ankita Patel, A. Lamb, E. Thom, A. Beaudet, D. Ledbetter, L. Shaffer, L. Jackson   +23 more
semanticscholar   +1 more source

Prenatal diagnosis of critical congenital heart disease reduces risk of death from cardiovascular compromise prior to planned neonatal cardiac surgery: a meta‐analysis

Ultrasound in Obstetrics and Gynecology, 2015
To determine if prenatal diagnosis improves the chance that a newborn with critical congenital heart disease will survive to undergo planned cardiac surgery.
B. Holland, J. Myers, C. Woods
semanticscholar   +1 more source

Diagnosis of lethal or prenatal‐onset autosomal recessive disorders by parental exome sequencing

Prenatal Diagnosis, 2017
Rare genetic disorders resulting in prenatal or neonatal death are genetically heterogeneous, but testing is often limited by the availability of fetal DNA, leaving couples without a potential prenatal test for future pregnancies.
K. Stals, M. Wakeling, J. Baptista, R. Caswell, A. Parrish, J. Rankin, C. Tysoe, Garan Jones, A. Gunning, Hana Lango Allen, L. Bradley, A. Brady, H. Carley, J. Carmichael, B. Castle, D. Cilliers, H. Cox, C. Deshpande, A. Dixit, J. Eason, F. Elmslie, A. Fry, A. Fryer, M. Holder, T. Homfray, E. Kivuva, V. McKay, R. Newbury-Ecob, M. Parker, R. Savarirayan, C. Searle, N. Shannon, D. Shears, S. Smithson, E. Thomas, P. Turnpenny, V. Varghese, P. Vasudevan, E. Wakeling, E. Baple, S. Ellard   +40 more
semanticscholar   +1 more source

Non-invasive prenatal diagnosis for cystic fibrosis: detection of paternal mutations, exploration of patient preferences and cost analysis

Prenatal Diagnosis, 2015
We aim to develop non‐invasive prenatal diagnosis (NIPD) for cystic fibrosis (CF) and determine costs and implications for implementation.
M. Hill, Philip Twiss, T. Verhoef, S. Drury, Fiona McKay, S. Mason, L. Jenkins, S. Morris, L. Chitty   +8 more
semanticscholar   +1 more source

Genetic analysis of albinism caused by compound heterozygous mutations of the OCA2 gene in a Chinese family

Hereditas
Background Oculocutaneous albinism (OCA) is a group of rare genetic disorders characterized by a reduced or complete lack of melanin in the skin, hair, and eyes. Patients present with colorless retina, pale pink iris, and pupil, and fear of light.
Yanan Wang, Yujie Chang, Mingya Gao, Weiwei Zang, Xiaofei Liu   +4 more
doaj   +1 more source