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http://dx.doi.org/10.1016/j.ajog.2025.07.022 | DOI Listing |
Mol Cytogenet
August 2025
Assisted Reproduction Unit, Department of Obstetrics and Gynecology, Sir Run Run Shaw Hospital, School of Medicine, Zhejiang University, Hangzhou, 310016, Zhejiang, China.
Background: Prader-Willi Syndrome (PWS) is a complicated genetic disorder demonstrating a variety of clinical phenotypes. Using molecular cytogenetics approaches to detect the deletions of the paternal 15q11-q13 region and maternal uniparental disomy of chromosome 15 plays an important role in the prenatal diagnosis of PWS.
Case Presentation: A pregnant woman with advanced maternal age underwent amniocentesis.
BMC Med Ethics
July 2025
Ethox Centre Nuffield Department of Population Health, University of Oxford, Oxford, United Kingdom.
Background: Healthcare professionals have ethical duties to provide information according to conceptions of the doctor-patient relationship, and one way this responsibility is established in practice is by UK guidance on shared decision making. Non-invasive prenatal testing (NIPT) is a relatively new prenatal screening test offered by the UK National Health Service (NHS) since 2021. Since NIPT has different characteristics when compared to other prenatal screens and tests-such as the combined test and amniocentesis-it is not clear how information should be offered in a pre-test consultation.
View Article and Find Full Text PDFAm J Obstet Gynecol
July 2025
Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, Guangdong, China. Electronic address:
BMC Pregnancy Childbirth
July 2025
Medical Intensive Care Unit, Sichuan Provincial Women's and Children's Hospital, The Affiliated Women's and Children's Hospital of Chengdu Medical College, Chengdu, 610014, China.
Background: Congenital dysfibrinogenemia is a rare autosomal dominant disorder involving abnormal fibrinogen function, leading to variable risks of bleeding and thrombosis. Its management during pregnancy is particularly challenging due to the potential for complications such as miscarriage, stillbirth, placental abruption, and fetal growth restriction. The absence of reliable predictive laboratory markers further complicate individualized risk assessment and clinical decision-making.
View Article and Find Full Text PDFFront Genet
May 2025
Department of Reproductive Medicine Center, Deyang People's Hospital, Deyang, Sichuan, China.
Background: The gene encodes an axonal glycoprotein belonging to the immunoglobulin supergene family that plays a crucial role in nervous system development. In this study, we reported a novel disease-causing mutation in the 3' splice site of and provided some insight into fetal X-linked hydrocephalus.
Methods: We obtained ultrasound images and collected samples from a couple and their fetuses.