Results 81 to 90 of about 4,187,133 (314)

Chromosomal microarray analysis for prenatal diagnosis of uniparental disomy: a retrospective study

Molecular Cytogenetics
Background Chromosomal microarray analysis (CMA) is a valuable tool in prenatal diagnosis for the detection of chromosome uniparental disomy (UPD).
Chenxia Xu, Miaoyuan Li, Tiancai Gu, Fenghua Xie, Yanfang Zhang, Degang Wang, Jianming Peng   +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, Jie Tian, Jitao Wei, Yu Zheng, Qianmei Zhuang, Yuanbai Wang, Qingyue Xie, Shuhong Zeng, Geng Wang, Yanchao Pan, Yuying Jiang   +10 more
doaj   +1 more source

Patient Perception of Negative Non-Invasive Prenatal Testing Results [PDF]

, 2016
Non-invasive prenatal testing (NIPT) uses cell-free fetal DNA to assess for fetal aneuploidy during pregnancy. NIPT has higher detection rates and positive predictive values than previous methods; however, NIPT is not diagnostic. Studies suggest patients
Wittman, Ann Theresa
core   +2 more sources

P622: NIPS dilemma in the context of consanguinity: Considerations for counseling

Genetics in Medicine Open, 2023
Noura Osman, Kathryn Rice, Herman Hedriana, Krishna Singh   +3 more
doaj   +1 more source

Ultrasonographic features of prenatal testicular torsion: Case report [PDF]

, 2013
Although prenatal testicular torsion (PNTT) is rarely observed,it is an important condition that can cause bilateralvanishing testis. Generally, PNTT cases observed asextravaginal torsion and treatment is emergency surgicalop-eration. In this article, 39
Bahattin Aydoğdu, Elif Ağaçayak
core   +1 more source

Fetal sex discordance

Taiwanese Journal of Obstetrics & Gynecology, 2020
Fetal sex discordance is an entity that is becoming more frequent due to the expansion of the cfDNA for prenatal diagnosis. Its incidence can be estimated in 1/1500–2000 pregnancies, a frequency as high as that of some common chromosomopathies.
Álvaro López Soto, Mar Bueno González, Isabel Urbano Reyes, Jose Luis Meseguer González, M Ángeles Jódar Pérez, Olivia García Izquierdo   +5 more
doaj   +1 more source

Clinical findings and molecular cytogenetic study of de novo pure chromosome 9p deletion: Pre- and postnatal diagnosis

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, Dong Wu, Yan Chu, Shi-Xiu Liao   +3 more
doaj   +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, A. Sotiriadis, P. Calda, F. Costa, N. Raine-Fenning, Z. Alfirevic, G. McGillivray   +6 more
semanticscholar   +1 more source

The Lived Experience of Klinefelter Syndrome: A Narrative Review of the Literature [PDF]

, 2019
open access ...
Cheetham, Tim, Fearon, Kristine, Hanna, Esmee, Herbrand, Cathy, Hudson, Nicky, McEleny, Kevin, Quinton, Richard, Stevenson, Eleanor, Wilkes, Scott   +8 more
core   +2 more sources

Non-invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next-generation sequencing allows for a safer, more accurate, and comprehensive approach

Prenatal Diagnosis, 2015
Accurate prenatal diagnosis of genetic conditions can be challenging and usually requires invasive testing. Here, we demonstrate the potential of next‐generation sequencing (NGS) for the analysis of cell‐free DNA in maternal blood to transform prenatal ...
L. Chitty, S. Mason, A. Barrett, Fiona McKay, N. Lench, R. Daley, L. Jenkins   +6 more
semanticscholar   +1 more source