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Relaxin in pregnancy: a narrative review of a pleiotropic molecule.
Minerva Obstet Gynecol
January 2025
Unit of Obstetrics and Gynecology, Department of Medical and Surgical Sciences for Mothers, Children and Adults, Policlinic University Hospital, University of Modena and Reggio Emilia, Modena, Italy.
Introduction: Relaxin is a hormone primarily produced by the corpus luteum during pregnancy, and it plays a critical role in various physiological processes related to pregnancy and childbirth.
Evidence Acquisition: Studies have suggested a possible link between relaxin levels and preterm birth. Relaxin's effects on the cervix and pelvic ligaments suggest it could influence the mode of delivery.
Improving prenatal diagnosis with combined karyotyping, CNV-seq and QF-PCR: a comprehensive analysis of chromosomal abnormalities in high-risk pregnancies.
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.
Noninvasive prenatal diagnosis (NIPD) of non-syndromic hearing loss (NSHL) for singleton and twin pregnancies in the first trimester.
Orphanet J Rare Dis
January 2025
Genetic and Prenatal Diagnosis Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
Background: Noninvasive prenatal diagnosis (NIPD) has been proven feasible for non-syndromic hearing loss (NSHL) in singleton pregnancies. However, previous research is limited to the second trimester and the application in twin pregnancies is blank. Here we provide a novel algorithmic approach to assess singleton and twin pregnancies in the first trimester.
View Article and Find Full Text PDFChromosomal Aberrations in Fetuses With Isolated Persistent Right Umbilical Vein-A Nationwide Study.
Prenat Diagn
January 2025
Center for Fetal Medicine and Pregnancy, Department of Gynecology, Fertility, and Pregnancy, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.
Objective: To evaluate the prevalence of chromosomal aberrations in fetuses with isolated PRUV in a nationwide cohort with 1st-trimester screening for aneuploidies.
Method: A retrospective study including all pregnancies in Denmark with a due date between 2010 and 2022. We retrieved all cases from patient files, where we searched for "PRUV" in the conclusion field.
The dilemma of X-linked agammaglobulinemia carriers.
J Allergy Clin Immunol Glob
February 2025
Department of Molecular Medicine, Sapienza University, Rome, Italy.
Background: Many patients with X-linked agammaglobulinemia (XLA) nowadays have reached adulthood, as well as their sisters, possibly carriers of a deleterious Bruton tyrosine kinase variant. Studies on motherhood outcomes in families with XLA are lacking.
Objective: We sought to investigate adherence to carrier status screening, interest in preconception and prenatal genetic counseling, and reproductive decisions in relatives with XLA.
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