Results 81 to 90 of about 2,588,889 (202)

International Society for Prenatal Diagnosis 2024 Debate 3—Cytogenetics Is a Dinosaur and Should Be Replaced by Molecular Technologies

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., Breman, Amy M., Talkowski, Michael E.   +2 more
core   +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

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
core  

False non-paternity in a family for prenatal diagnosis of β-thalassaemia

, 1993
Initial screening for the common β-thalassaemia mutations with allele-specific oligonucleotide probe in an at-risk family suggested non-paternity. Subsequent DNA fingerprinting of the members proved otherwise.
Todd, D, Chan, TPT, Chan, TK, Chan, V, Lau, K   +4 more
core   +1 more source

Preimplantation Genetic Testing for Cornelia de Lange Syndrome with Low-Level Maternal Gonadal Mosaicism for a Sub-Megabase Deletion in China

The Application of Clinical Genetics
Lulu Meng,1,* Yan Wang,1,* Junqiang Zhang,2,* Ran Zhou,1 Xingxing Wang,3 Fengchang Qiao,1 Qinxin Zhang,1 Cheng Wan,3 Shujing Jiao,3 Ping Hu,1 Zhengfeng Xu11Department of Prenatal Diagnosis, Women’s Hospital of Nanjing Medical ...
Meng L, Wang Y, Zhang J, Zhou R, Wang X, Qiao F, Zhang Q, Wan C, Jiao S, Hu P, Xu Z   +10 more
doaj  

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

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

CURRENT PRACTICE OF PRENATAL DIAGNOSIS IN CANADA

, 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  

Prenatal diagnosis using deletion studies in Duchenne muscular dystrophy

, 1988
Accurate carrier testing and prenatal diagnosis in Duchenne muscular dystrophy (DMD) families is facilitated when an Xp21 deletion is found to be segregating within a family.
Vance, Jeffery M, Speer, Marcy C, Yamaoka, Larry H, Roses, Allen D, Pericak‐Vance, Margaret A, Koh, James, Bartlett, Richard J, Hung, Wu‐Yen, Gaskell, Peter C   +8 more
core   +1 more source

Diagnostic value of karyotyping, CMA/CNV-seq, and WES in fetuses with thickened nuchal translucency: perinatal and two-year follow-up outcomes

BMC Medical Genomics
Background This study aimed to analyze the perinatal and pediatric outcomes of fetuses with thickened nuchal translucency (NT ≥ 2.5 mm) to enhance prenatal diagnostic strategies.
Mohan Wang, Yizhen Ji, Yasong Xu, Shiyu Sun, Xiaomei Yang, Li Sun, Qichang Wu   +6 more
doaj   +1 more source