Results 11 to 20 of about 157,842 (260)
Verification of a cryptic t(Y;15) translocation in a male with an apparent 45,X karyotype
Molecular Cytogenetics, 2022 Background A rare disease is that an individual with a non-chimeric karyotype of 45,X develops into a male. We explored the genetic aetiology of an infertile male with an apparent 45,X karyotype, which was subsequently verified as cryptic translocation ...
Shengfang Qin +7 more
doaj +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
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
Clinical Psychology Review, 1998 This paper describes the psychological and psychosocial aspects of prenatal care, which are believed to be of particular importance for medical/psychological practice. The emotional changes that "normally" take place during pregnancy are surveyed and evidence is provided linking these changes with potential adverse effect on pregnancy and labour.
Dragonas, T., Christodoulou, G.N.
openaire +3 more sources
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
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
Quality of prenatal care as it relates to the source of prenatal care [PDF]
International Journal of Medicine and Public Health, 2013 Context: Prenatal care is commonly understood to have a beneficial impact on pregnancy outcome. Child survival is directly dependent on good maternal health and nutrition. Aim: To study the variation in counseling of prenatal care measures at different sources of care.
VinodK Ramani, AnneM Radigan
openaire +1 more source
Optical genome mapping for detection of chromosomal aberrations in prenatal diagnosis
Acta Obstetricia et Gynecologica Scandinavica, 2023 Introduction Chromosomal aberrations are the most important etiological factors for birth defects. Optical genome mapping is a novel cytogenetic tool for detecting a broad range of chromosomal aberrations in a single assay, but relevant clinical ...
Qinxin Zhang +12 more
doaj +1 more source