Objectives: The aim of the study was to assess whether preimplantation genetic diagnosis (PGD) was an acceptable alternative to prenatal diagnosis in couples at risk of giving birth to a child with alpha- or beta-thalassaemia in an Asian population.
Methods: An information leaflet was distributed to the women at risk. They were asked to complete a questionnaire after having an interview with a designated investigator.
Results: A total of 141 valid questionnaires were analysed; 82.3% of the women considered PGD either the same or better than conventional prenatal diagnosis. Women with an affected child or a subfertility problem were more willing to accept PGD and to undergo this procedure in their future pregnancies. Their main concern about PGD was damage to the embryo during the PGD procedure. The most important perceived advantage of PGD was avoidance of termination of an affected pregnancy.
Conclusions: PGD is an acceptable alternative to conventional prenatal diagnosis in women at risk of giving birth to a child with alpha- or beta-thalassaemia in an Asian population. This is particularly true in women with a subfertility problem and in women who already have an affected child.
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http://dx.doi.org/10.1002/pd.387 | DOI Listing |
J Med Genet
January 2025
Service de Génétique, Centre Hospitalier Régional Universitaire de Tours, Tours, France
Background: Aarskog-Scott syndrome (AAS) is a rare condition with multiple congenital anomalies, caused by hemizygote variants in the gene. Its description was based mostly on old case reports, in whom a molecular diagnosis was not always available, or on small series. The aim of this study was to better delineate the phenotype and the natural history of AAS and to provide clues for the diagnosis and the management of the patients.
View Article and Find Full Text PDFChilds Nerv Syst
January 2025
Department of Global Health, Faculty of Health Sciences, McMaster University, 1280 Main St W, Hamilton, ON, L8S 4L8, Canada.
Background: A giant encephalocele associated with Chiari malformation is a rare congenital anomaly from a cephalad neural tube defect. Early prenatal diagnosis and parental counseling are essential; as early surgical intervention can improve outcomes.
Methods: Between 2010 and 2023, twenty-seven newborns out of 43,815 delivered at our institution were diagnosed with encephaloceles, including seven cases of giant encephalocele associated with Chiari malformation type III.
J Perinat Med
January 2025
Department of Obstetrics, Gynecology, and Reproductive Medicine, Renaissance School of Medicine at Stony Brook University, Stony Brook, New York, USA.
Objectives: Pregnancies affected by opioid use disorder (OUD) face difficulties with postpartum pain control. This study aims to determine if prenatal anesthesia consultation for patients on medication for opioid use disorder (MOUD) affects maternal postpartum pain control.
Methods: This is a retrospective cohort study of pregnant patients diagnosed on MOUD who received prenatal care and delivered at a single academic institution between January 2017 and July 2023.
Diagnostics (Basel)
January 2025
Department of Pathology, Faculty of Medicine, Universiti Kebangsaan Malaysia, Kuala Lumpur 56000, Malaysia.
Umbilical artery thrombosis (UAT) masquerading as a single umbilical artery (SUA) is a rare but critical diagnostic challenge in prenatal care. We described a case of a 22-year-old primigravida with an uneventful obstetric history who presented with reduced fetal movements at 22 weeks of gestation. Ultrasound showed no gross fetal structural anomalies while umbilical artery Doppler flow imaging revealed an isolated SUA.
View Article and Find Full Text PDFDiagnostics (Basel)
December 2024
Radiology and Medical Imaging Department, College of Applied Medical Sciences, Prince Sattam bin Abdulaziz University, Al-Kharj 16278, Saudi Arabia.
Sonoelastography, a novel ultrasound-based technique, is emerging as a valuable tool in prenatal diagnostics by quantifying tissue elasticity and stiffness in vivo. This narrative review explores the application of sonoelastography in assessing maternal and fetal health, with a focus on cervical, placental, pelvic floor, and fetal tissue evaluations. In the cervix, sonoelastography aids in predicting preterm birth and assessing labor induction success.
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