Results 51 to 60 of about 3,897,220 (150)
Molecular Cytogenetics, 2021 Background Trisomy 19q is a recognizable syndrome and associated with a wide spectrum of clinical phenotypes in clinic. The purpose of this study was to explore the prenatal phenotypes of 19q13.42 duplication, which was rarely reported in clinic.
Xinyue Zhang +6 more
doaj +1 more source
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 +8 more
doaj +1 more source
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 +6 more
semanticscholar +1 more source
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 +6 more
doaj +1 more source
Molecular analysis of a large novel deletion causing α+-thalassemia
BMC Medical Genetics, 2019 Background α-thalassaemia is an inherited blood disorder caused by mutations in the α-globin gene cluster. Recognizing the pathogenic α-globin gene mutations associated with α-Thalassemia is of significant importance to thalassaemia’s diagnosis and ...
Jianlong Zhuang +10 more
doaj +1 more source
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 +6 more
doaj +1 more source
Prenatal Diagnosis Innovation: Genome Sequencing of Maternal Plasma.
Annual Review of Medicine, 2016 Noninvasive prenatal testing (NIPT) is accomplished by analysis of circulating cell-free fetal nucleic acids in maternal plasma. The advent of massively parallel sequencing (MPS) has enabled NIPT of chromosomal aneuploidies with unprecedented robustness,
F. Wong, Y. Lo
semanticscholar +1 more source
ISUOG Practice Guidelines: invasive procedures for prenatal diagnosis
Ultrasound in Obstetrics and Gynecology, 2016 These guidelines may have been translated, from the originals published by ISUOG, by recognized experts in the field and have been independently verified by reviewers with a relevant first language.
T. Ghi +6 more
semanticscholar +1 more source
Taiwanese Journal of Obstetrics & Gynecology, 2016 Objective: The aim of this report is to describe the phenotype-genotype correlation of chromosome 9p deletion syndrome cases, particularly the prenatal cases.
Qiao-Fang Hou +3 more
doaj +1 more source
BMC Cardiovascular Disorders, 2020 Background The incidence of CHD is the highest among birth defects and is increasing year to year. CHD seriously harms the health of infants and young children and presents a large economic burden to families and society.
Lin Na +8 more
doaj +1 more source