Results 31 to 40 of about 3,897,220 (150)

A rare Down syndrome foetus with de novo 21q;21q rearrangements causing false negative results in non-invasive prenatal testing: a case report

BMC Medical Genomics, 2020
Background Non-invasive prenatal testing (NIPT) has been established as a routine prenatal screening to assess the risk of common foetal aneuploidy disorder (trisomy 21, 18, and 13).
Hui-Hui Xu, Mei-Zhen Dai, Kai Wang, Yang Zhang, Fei-Yan Pan, Wei-Wu Shi   +5 more
doaj   +1 more source

Rapid prenatal diagnosis using targeted exome sequencing: a cohort study to assess feasibility and potential impact on prenatal counseling and pregnancy management

Genetics in Medicine, 2018
Unexpected fetal abnormalities occur in 2–5% of pregnancies. While traditional cytogenetic and microarray approaches achieve diagnosis in around 40% of cases, lack of diagnosis in others impedes parental counseling, informed decision making, and ...
N. Chandler, Sunayna Best, Jane D. Hayward, F. Faravelli, S. Mansour, E. Kivuva, Dagmar Tapon, Alison M. Male, C. Devile, L. Chitty   +9 more
semanticscholar   +1 more source

Influence of prenatal diagnosis of abnormally invasive placenta on maternal outcome: systematic review and meta‐analysis

Ultrasound in Obstetrics and Gynecology, 2018
To ascertain the impact of prenatal diagnosis on surgical outcome of women affected by abnormally invasive placenta (AIP).
D. Buca, M. Liberati, G. Calỉ, F. Forlani, C. Caisutti, M. Flacco, L. Manzoli, A. Familiari, G. Scambia, F. D'antonio   +9 more
semanticscholar   +1 more source

Population‐based trends in the prenatal diagnosis of sex chromosome aneuploidy before and after non‐invasive prenatal testing

Prenatal Diagnosis, 2018
To assess the impact of non‐invasive prenatal testing (NIPT) on trends in the prenatal diagnosis of sex chromosome aneuploidy (SCA) in a population with >73,000 annual births.
A. Howard-Bath, A. Poulton, J. Halliday, L. Hui   +3 more
semanticscholar   +1 more source

A Beckwith-Wiedemann syndrome case with de novo 24 Mb duplication of chromosome 11p15.5p14.3

Molecular Cytogenetics, 2021
Background Molecular genetic testing for the 11p15-associated imprinting disorder Beckwith-Wiedemann syndrome (BWS) is challenging because of the molecular heterogeneity and complexity of the affected imprinted regions.
Huling Jiang, Zepeng Ping, Jianguo Wang, Xiaodan Liu, Yuxia Jin, Suping Li, Chiyan Zhou, Pinghua Huang, Yi Jin, Ling Ai, Jie Chen   +10 more
doaj   +1 more source

Amniocentesis and chorionic villus sampling for prenatal diagnosis.

Cochrane Database of Systematic Reviews, 2017
BACKGROUND During pregnancy, fetal cells suitable for genetic testing can be obtained from amniotic fluid by amniocentesis (AC), placental tissue by chorionic villus sampling (CVS), or fetal blood.
Z. Alfirevic, K. Navaratnam, F. Mujezinović   +2 more
semanticscholar   +1 more source

Prenatal diagnosis of rearrangements in the fetal 22q11.2 region

Molecular Cytogenetics, 2020
Background 22q11.2 deletion syndrome (22q11.2DS) and 22q11.2 duplication syndrome (22q11.2DupS) are the most common copy number variations in humans. The clinical phenotypes of these two syndromes are variable, and there are no large sample data on the ...
Suping Li, Yuxia Jin, Jing Yang, Li Yang, Ping Tang, Chiyan Zhou, Liping Wu, Jinhua Dong, Jie Chen, Huaxiang Shen   +9 more
doaj   +1 more source

Chromosomal abnormalities and copy number variations in fetal ventricular septal defects

Molecular Cytogenetics, 2018
Background This study aimed to evaluate the applicability of chromosomal microarray analysis (CMA), rather than traditional chromosome analysis, in prenatal diagnosis of ventricular septal defects (VSDs) for superior prenatal genetic counseling and to ...
Meiying Cai, Hailong Huang, Linjuan Su, Na Lin, Xiaoqing Wu, Xiaorui Xie, Gang An, Ying Li, Yuan Lin, Liangpu Xu, Hua Cao   +10 more
doaj   +1 more source

Copy number variations associated with fetal congenital kidney malformations

Molecular Cytogenetics, 2020
Background Congenital anomalies of the kidney and urinary tract (CAKUT) constitute 20–30% of all congenital malformations. Within the CAKUT phenotypic spectrum, renal hypodysplasia (RHD) is particularly severe.
Meiying Cai, Na Lin, Linjuan Su, Xiaoqing Wu, Xiaorui Xie, Ying Li, Xuemei Chen, Yuan Lin, Hailong Huang, Liangpu Xu   +9 more
doaj   +1 more source

Nomogram for predicting the risk of preterm birth in women undergoing in vitro fertilization cycles

BMC Pregnancy and Childbirth, 2023
Background The aim of this study was to develop a nomogram for predicting the risk of preterm birth in women undergoing in vitro fertilization (IVF) cycles.
Mohan Wang, Mengzhe Hao, Ning Liu, Xiao Yang, Yubin Lu, Ruizhi Liu, Hongguo Zhang   +6 more
doaj   +1 more source