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Association between maternal androgen levels and early fetal sex differentiation: Anogenital distance and genital tubercle length in the first trimester.
Early Hum Dev
January 2025
Department of Obstetrics and Gynecology, Faculty of Medicine, Gazi University, Ankara, Turkey.
Purpose: To evaluate the use of anogenital distance (AGD) and genital tubercle length (GTL) between 11 and 13 + 6 weeks of gestation for fetal sex determination and to assess the impact of maternal androgen levels on these measurements.
Methods: A cross-sectional study was conducted from February to June 2017 with patients undergoing first trimester Down syndrome screening. Inclusion criteria were: (1) female age 18-49, (2) gestational age between 11 and 13 + 6 weeks, (3) optimal visualization of AGD and GTL, and (4) nonsmoking status.
Retrospective Analysis of the Correlation between Umbilical Blood Flow Index and Maternal and Fetal Outcomes in Pregnant Women with Gestational Diabetes.
Br J Hosp Med (Lond)
January 2025
Department of Obstetrics and Gynecology, The First Clinical Medical College of Three Gorges University, Yichang Central People's Hospital, Yichang, Hubei, China.
Gestational diabetes mellitus (GDM) is a common complication during pregnancy. This retrospective study investigates the correlation between umbilical blood flow index and maternal-fetal outcomes in pregnant women with GDM, aiming to contribute to evidence-based risk assessment and management strategy in this high-risk obstetric population. This retrospective study recruited 119 pregnant women with GDM who were admitted to the Yichang Central People's Hospital, between January 2022 and January 2024.
View Article and Find Full Text PDFNon-Invasive Determination of the Paternal Inheritance in Pregnancies at Risk for β-Thalassaemia by Analyzing Cell-Free Fetal DNA Using Targeted Next-Generation Sequencing.
Int J Mol Sci
January 2025
Molecular Genetics Thalassaemia Department, The Cyprus Institute of Neurology & Genetics, Nicosia 2371, Cyprus.
Non-invasive prenatal testing (NIPT) has been widely adopted for the screening of chromosomal abnormalities; however, its adoption for monogenic disorders, such as β-thalassaemia, has proven challenging. Haemoglobinopathies are the most common monogenic disorders globally, with β-thalassaemia being particularly prevalent in Cyprus. This study introduces a non-invasive prenatal haplotyping (NIPH) assay for β-thalassaemia, utilizing cell-free DNA (cfDNA) from maternal plasma.
View Article and Find Full Text PDF[Prenatal diagnosis of trisomy 21: Influence of pediatric counseling of pregnant women and contact with families who have an affected child].
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 PDFExpanded non-invasive prenatal testing offers better detection of fetal copy number variations but not chromosomal aneuploidies.
PLoS 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.
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