Results 141 to 150 of about 4,096,588 (418)

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

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, Freeman, Karoline, HASH(0x55aa091d4640), Hyde, Julia, Osipenko, Leeza, Szczepura, Ala   +5 more
core  

Severe Nerve Enlargement in SOS2‐Related Noonan Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan syndrome is a genetic multisystem congenital disorder, caused by pathogenic variants in genes that encode components of the RAS/MAPK signaling pathway. Pathogenic variants in SOS2 represent less than 2% of cases with NS. The phenotype includes a particularly high prevalence (65%) of lymphatic disease. Recently, severe nerve enlargements
Erika Leenders, Fieke Draaisma, Corrie E. Erasmus, Catelijne Coppens, Lotte E. R. Kleimeier, Melanie Burgers, Tuula Rinne, Martin Zenker, Laura Mazzanti, Wesley Reintjes, Nens van Alfen, Jos M. T. Draaisma   +11 more
wiley   +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

Noninvasive prenatal diagnosis of 21-Hydroxylase deficiency using target capture sequencing of maternal plasma DNA. [PDF]

, 2017
Here, we aimed to validate a noninvasive method using capture sequencing for prenatal diagnosis of congenital adrenal hyperplasia due to 21-Hydroxylase deficiency (21-OHD).
Asan, Chen, Chao, Cheng, Jian, Guo, Fengyu, Hu, Ping, Jiang, Tao, Luo, Chunyu, Ma, Dingyuan, Sun, Yun, Wang, Jian, Wang, Wei, Wang, Yaoshen, Xu, Zhengfeng, Yang, Huanming, Yi, Xin, Yuan, Yuan, Zhang, Jingjing   +16 more
core   +2 more sources

Do Influential Articles on the Genetics of Autism Show Evidence of Engagement With the Autistic Community?

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Investigations into the etiology and genetic basis of autism continue to drive much autism research, yet reports are emerging of this research not aligning with priorities of autistic people. Engagement of autistic people in the research process is a key way to take their perspectives on board.
Heidi Kristiina Kaljusto, Emma Wilson, Sue Fletcher‐Watson   +2 more
wiley   +1 more source

Identification of important genes related to ferroptosis in early missed abortion based on WGCNA

Scientific Reports
Early missed abortion is defined as a pregnancy of ≤ 12 weeks in which there is a cessation of life in the developing embryo or fetus, leading to its retention within the uterine cavity without being spontaneously expelled promptly.
Yulu Zeng, Jiayi Gan, Jinlian Cheng, Changqiang Wei, Xiangyun Zhu, Shisi Wei, Lihong Pang   +6 more
doaj   +1 more source

Prenatal diagnosis of genetic disorders. [PDF]

, 1976
Martinus F. Niermeijer, E. S. Sachs, M Jahodova, C. Tichelaar-Klepper, W. J. Kleijer, H. Galjaard   +5 more
openalex   +1 more source

Emerging prenatal genetic tests : developing a health technology assessment (HTA) framework for informed decision-making [PDF]

, 2005
Delphi Process In preparation for the first Delphi exercise, a list of questions was produced from the academic literature, webbased sources and interviews with experts.
Freeman, Karoline, HASH(0x55aa091f4e88), Hyde, Julia, Osipenko, Leeza, Szczepura, Ala   +4 more
core  

Non‐Invasive Prenatal Testing by Cell‐Free DNA (cfNIPT) for Detecting Turner Syndrome With Mosaicism and Structural Variants—Prenatal Findings and Postnatal Outcomes

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Turner Syndrome (TS) is a sex chromosomal disorder associated with karyotype heterogeneity. Although TS can be associated with severe prenatal findings, most often linked to the 45, X karyotype, the majority of TS fetuses have no overt phenotype, resulting in delayed diagnosis and management.
Ivonne Bedei, Johanna Bruder, Ida C. B. Lund, Simon H. Thomsen, Ida Vogel, Andrea T. Maciel‐Guerra, Francisco Alvarez‐Nava, Melissa L. Crenshaw, Roland Axt‐Fliedner, Claus H. Gravholt, Anne Skakkebæk   +10 more
wiley   +1 more source