This study examines the expression of alpha and beta subunits of human chorionic gonadotrophin (HCG) in samples of placental and decidual tissue obtained at 11-15 weeks of gestation from 30 control pregnancies and 11 pregnancies with trisomy 21. In the placental tissue, the concentrations of beta-HCG mRNA and alpha-HCG mRNA were augmented in six and seven of the trisomy 21 cases respectively and in 16 and 14 of the control pregnancies. The median values of beta-HCG mRNA and alpha-HCG mRNA in the two groups were not significantly different. Although the median serum free beta-HCG concentration was significantly (P = 0.03) higher in trisomy 21 pregnancies than the controls, there was no relationship between serum free beta-HCG and relative abundance of beta-HCG mRNA in either the trisomy 21 pregnancies or the controls. Decidual expression of beta-HCG and alpha-HCG mRNA were below detection level in the Northern blot analysis in both the trisomy 21 pregnancies and the controls. These findings suggest that the increase in maternal serum free beta-HCG concentration in trisomy 21 pregnancies occurs during the post-transcriptional phase of HCG protein biosynthesis.
Download full-text PDF |
Source |
---|---|
http://dx.doi.org/10.1093/oxfordjournals.humrep.a136331 | DOI Listing |
Front Genet
January 2025
Department of Laboratory, The Second People's Hospital of Yibin City, Yibin, Sichuan, China.
Objective: This study aims to assess the diagnostic efficacy of a combined approach integrating chromosomal karyotyping, copy number variation sequencing (CNV-seq), and quantitative fluorescence polymerase chain reaction (QF-PCR) in detecting chromosomal abnormalities in high-risk pregnancies.
Methods: This retrospective study analyzed 617 high-risk pregnancies undergoing prenatal diagnosis from February 2023 to August 2024, with amniotic fluid samples concurrently analyzed using karyotyping, CNV-seq, and QF-PCR. We evaluated clinical characteristics, diagnostic yields, and inter-method concordance rates.
Prenat Diagn
January 2025
Department of Clinical Medicine, Center for Fetal Diagnostics, Aarhus University, Aarhus, Denmark.
Objective: Prenatal detection of Trisomy 16 mosaicism (MosT16) in a Chorionic Villus Sample (CVS) results may cause significant anxiety for expectant parents due to the risk of fetal malformation and fetal growth restriction (FGR). The aim of this study was to investigate the experiences and decision-making of women receiving a MosT16 results during pregnancy.
Methods: In-depth, semi-structured interviews with eight Danish women who received a MosT16 CVS results.
Z Geburtshilfe Neonatol
January 2025
Neonatologie, Universitätsklinikum Erlangen, Kinder- und Jugendklinik, Erlangen, Germany.
The widespread use of non-invasive prenatal testing (NIPT) has turned prenatal diagnostics for chromosomal abnormalities from the exception to the rule. A common finding is the suspicion of trisomy 21 in the fetus, which should result in the offer of multidisciplinary counseling. The significance of this for decision-making by the pregnant woman has not yet been investigated.
View Article and Find Full Text PDFPLoS One
January 2025
Henan Key Laboratory of Fertility Protection and Aristogenesis, Luohe Central Hospital, Luohe, Henan Province, People's Republic of China.
Purpose: To evaluate the clinical performance of expanded non-invasive prenatal testing (NIPT-plus) and compare its effectiveness in screening for chromosomal aneuploidies with that of NIPT.
Methods: Screening results, confirmatory invasive testing results, and follow-up data from pregnant women who underwent either NIPT (6792 cases) or NIPT-Plus (5237 cases) testing at Luohe Central Hospital, China, from January 2019 to June 2023 were collected. The positive predictive value (PPV), sensitivity, specificity, and other indicators for different types of chromosomal abnormalities in NIPT/NIPT-plus screening were calculated.
Med Sci (Basel)
December 2024
Department of Medical Genetics, Faculty of Medicine, Medical University of Varna, 9002 Varna, Bulgaria.
: NIPT is a widely implemented method for prenatal screening of chromosomal disorders. Its introduction initiated the practice of counseling women pre- and post-analytically. Since the test's usage is established in different conditions, comparing data from various socioeconomic and cultural backgrounds would be of scientific value.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!