Results 11 to 20 of about 4,265,740 (294)
Attitudes toward prenatal diagnosis and termination of pregnancy in Saudi Arabia [PDF]
, 2004 INTRODUCTION: Advances in molecular biology will soon make it possible to offer parents prenatal testing for a large number of different genetic disorders.
Alsulaiman, Ayman
core +7 more sources
An Investigation into the Evaluation of the Satisfaction with Prenatal Care Services among Pregnant Women Attending Healthcare Centers during Pregnancy in the Capital of Lorestan Province, Iran [PDF]
, 2022 Background: Pregnancy period is one of the most important periods for mother and infant, and the maternal and fetal health during this period is of paramount importance. This study aimed to evaluate the satisfaction with prenatal (also known as antenatal)
Qanadi, Pardis +3 more
core +1 more source
Molecular and cytogenetic analysis of small supernumerary marker chromosomes in prenatal diagnosis
Molecular Cytogenetics, 2023 Background Small supernumerary marker chromosome (sSMC) is a structurally abnormal chromosome of unknown origin by conventional cytogenetics. The understanding of clinical significance of sSMC is still limited in prenatal diagnosis.
Yang Yang, Wang Hao
doaj +1 more source
A novel nonsense mutation of TGFBR1 in a fetus with untypical Loeys-Dietz syndrome 1
Taiwanese Journal of Obstetrics & Gynecology, 2022 Objective: We present a rare untypical Loeys-Dietz syndrome 1 case in prenatal setting and report a novel mutation in the TGFBR1 gene. Case report: A pregnant woman came for medical attention due to the fetal ultrasound anomaly.
Yang Yang, Wang Yan, Mao Aifen, Wang Hao
doaj +1 more source
Clinical and Experimental Obstetrics & Gynecology, 2020 Objective: To analyze the fibroblast growth factor receptor 3 gene (FGFR3) mutations in fetuses with thanatophoric dysplasia type I (TD1) and to provide additional data for genotype-phenotype analyses.
Q.C. Wu +6 more
doaj +1 more source
Frontiers in Genetics, 2022 Spondyloepiphyseal dysplasia congenital (SEDC) is a rare chondrodysplasia caused by dominant pathogenic variants in COL2A1. Here, we detected a novel variant c.3392G > T (NM_001844.4) of COL2A1 in a Chinese family with SEDC by targeted next-generation
Lihong Fan +7 more
doaj +1 more source
Understandings of Down's syndrome and their place in the prenatal testing context [PDF]
, 2003 INTRODUCTION: There is a growing consensus that decisions about prenatal testing should a) be informed, and b) reflect the individual's attitudes and values.
Bryant, Louise Dorothy
core +7 more sources
Taiwanese Journal of Obstetrics & Gynecology, 2021 Objective: The aim of this work was to characterize the genetic abnormalities and prenatal diagnosis indications in one fetus with Cri-du-Chat syndrome with codependent 10q24.2-q26.3 duplication in prenatal screening. Materials and methods: A 31-year-old
Jian-Ping He +7 more
doaj +1 more source
Identification of a familial complex chromosomal rearrangement by optical genome mapping
Molecular Cytogenetics, 2022 Background Complex chromosomal rearrangements (CCRs) are rare chromosomal structural variations, containing a variety of rearrangements such as translocation, inversion and/or insertion.
Yang Yang, Wang Hao
doaj +1 more source
Analysis of Biomarkers for Congenital Heart Disease Based on Maternal Amniotic Fluid Metabolomics
Frontiers in Cardiovascular Medicine, 2021 Congenital heart disease (CHD) is the most common birth defect. The prenatal diagnosis of fetal CHD is completely dependent on ultrasound testing, but only ~40% of CHD can be detected.
Yahong Li +15 more
doaj +1 more source