Results 71 to 80 of about 4,187,133 (314)

Prenatal diagnosis of cystinosis [PDF]

The Journal of Pediatrics, 1975
Cystinosis was diagnosed in a small quantity of cultured amniotic cells from a 22-week-old fetus by a modified pulse-labeling technique in which intracellular 35SL-cystine retention was measured. As a result of the above finding, the pregnancy was terminated by administration of prostaglandin.
Dorothy Harris, Dorothy Harris, Beatrice States, Beatrice States, Stanton Segat, Stanton Segat, Bonnie Blazer, Bonnie Blazer   +7 more
openaire   +3 more sources

Experiences of informational needs and received information following a prenatal diagnosis of congenital heart defect

Prenatal Diagnosis, 2016
To explore the need for information and what information was actually received following prenatal diagnosis of a congenital heart defect, in a country where termination of pregnancy beyond 22 weeks of gestation is not easily possible because of legal ...
Tommy Carlsson, G. Bergman, Barbro Wadensten, E. Mattsson   +3 more
semanticscholar   +1 more source

Elimination of Congenital Syphilis in Ukraine: Analysis and the Emerging Issues [PDF]

, 2017
The objective of this study is to analyze the indicators of the process of elimination of mother-to-child transmission of syphilis in Ukraine thus helping to prepare for elimination of this process according to the WHO targets and criteria ...
Derevyanko, L. (Lyudmyla)
core   +2 more sources

Prenatal diagnosis of 4953 pregnant women with indications for genetic amniocentesis in Northeast China

Molecular Cytogenetics, 2019
Background Several different technologies are used for prenatal screening procedures and genetic diagnostic technologies. We aimed to investigate the rates of chromosomal abnormalities in cases with different abnormal prenatal indications and to ...
Rulin Dai, Yang Yu, Qi Xi, Xiaonan Hu, Haibo Zhu, Ruizhi Liu, Ruixue Wang   +6 more
doaj   +1 more source

Non‐invasive prenatal diagnosis (NIPD) for single gene disorders: cost analysis of NIPD and invasive testing pathways

Prenatal Diagnosis, 2016
Evaluate the costs of offering non‐invasive prenatal diagnosis (NIPD) for single gene disorders compared to traditional invasive testing to inform NIPD implementation into clinical practice.
T. Verhoef, M. Hill, S. Drury, S. Mason, L. Jenkins, S. Morris, L. Chitty   +6 more
semanticscholar   +1 more source

Comprehensive analysis of three female patients with different types of X/Y translocations and literature review

Molecular Cytogenetics, 2023
Background X/Y translocations are highly heterogeneity in terms of clinical genetic effects, and most patients lack complete pedigree analysis for clinical and genetic characterization. Results This study comprehensively analyzed the clinical and genetic
Shanquan Liu, Jiemei Zheng, Xijing Liu, Yi Lai, Xuan Zhang, Tiantian He, Yan Yang, He Wang, Xuemei Zhang   +8 more
doaj   +1 more source

Impact of prenatal diagnosis on survival of newborns with four congenital heart defects: a prospective, population-based cohort study in France (the EPICARD Study)

BMJ Open, 2017
Objectives (1) Assess the population-level probability of prenatal diagnosis and termination of pregnancy for fetal anomaly for four major congenital heart defects; (2) Examine, using population-based data, the relation between timing of (prenatal vs ...
B. Khoshnood, N. Lelong, L. Houyel, D. Bonnet, M. Ballon, J. Jouannic, F. Goffinet   +6 more
semanticscholar   +1 more source

Molecular cytogenetic analysis and genetic counseling: a case report of eight 46,XX males and a literature review

Molecular Cytogenetics, 2019
Background 46,XX male syndrome is a rare disorder that usually causes infertility. This study was established to identify the genetic causes of this condition in a series of 46,XX males through the combined application of cytogenetic and molecular ...
Fagui Yue, Hongguo Zhang, Qi Xi, Yuting Jiang, Leilei Li, Ruizhi Liu, Ruixue Wang   +6 more
doaj   +1 more source

Associated factors of secondary sex ratio of offspring in assisted reproductive technology: a cross-sectional study in Jilin Province, China

BMC Pregnancy and Childbirth, 2020
Background The aim of this study was to determine the secondary sex ratio (SSR) of offspring in assisted reproduction technology (ART) in Jilin Province, China, and to analyse the influencing factors associated with SSR.
Mohan Wang, Xiangyin Liu, Han Zhang, Leilei Li, Ruizhi Liu, Hongguo Zhang, Yang Yu   +6 more
doaj   +1 more source

Prenatal origin of childhood AML occurs less frequently than in childhood ALL [PDF]

, 2006
Background While there is enough convincing evidence in childhood acute lymphoblastic leukemia (ALL), the data on the pre-natal origin in childhood acute myeloid leukemia (AML) are less comprehensive.
AM Ford, AT Maia, AT Maia, AT Maia, Bjoern Schneider, C Meyer, Claus Meyer, CM McHale, CM McHale, Felix Votava, GS Makowski, H Kempski, H Kiyoi, J Zuna, Jan Stary, Jan Trka, Jan Zuna, JL Wiemels, JL Wiemels, JL Wiemels, JL Wiemels, Jozef Madzo, JW Taub, K Fasching, Katerina Muzikova, KB Gale, KE Richkind, LK Jones, LL Hjalgrim, LY Shih, MD Megonigal, MF Greaves, MJ Pongers-Willemse, N Goulden, PD Kottaridis, Rolf Marschalek, S Meshinchi, SA Miller, SC Raimondi, T Szczepanski, T Yagi, Tatiana Burjanivova   +41 more
core   +3 more sources