Introduction: Prenatal diagnosis (PND) raises ethical dilemmas such as the option of termination of pregnancy (TOP) in cases with severe outcome. Prader-Willi Syndrome (PWS), a complex neurogenetic syndrome with high morbidity and mortality throughout life. Recently, a unique prenatal phenotype was reported and TOP becomes a possibility.
Objective: To explore factors influencing the attitudes of parents of PWS children toward PND and TOP concerning a hypothetical pregnancy with a PWS fetus.
Methods: All 85 parents of individuals with PWS were interviewed regarding their attitudes towards PND and TOP using semi-structured questionnaire.
Results: Fifty-seven parents were supportive of invasive PND and 28 of non-invasive tests only; none opposed PND. Thirty eight favored TOP, additional 31 supported TOP under certain conditions such as spiritual advice, 15 were categorically against TOP. Attitudes correlated with religiosity (p < 0.025), mother's education (p < 0.001), mother's work status (p < 0.001), current age of the child with PWS (p < 0.008). Couples had similar attitudes regarding PND and TOP. No correlation was found with gender, genetic subtype and parental age.
Conclusions: Most parents of individuals with PWS support PND, however less than half support TOP. Religiosity was the most influential factor. Familial worldview should be taken into account during prenatal counseling.
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http://dx.doi.org/10.1016/j.ejmg.2017.01.003 | DOI Listing |
Eur J Obstet Gynecol Reprod Biol
January 2025
Obstetrics and Fetal Medicine Unit, CHRU of Nancy, Nancy, France; Department of Fetopathology and Placental Pathology, CHRU of Nancy, Nancy, France; Inserm, Diagnostic and Interventional Adaptive Imaging, University of Lorraine, Nancy, France. Electronic address:
Objective: This study aimed to evaluate the utility of fetal MRI in prenatal diagnosis.
Methods: A retrospective study was conducted, including all pregnant women who underwent fetal MRI at a single French university center from 2018 to 2022. Fetal MRI findings were deemed "concordant" if they matched the ultrasound diagnosis.
J Clin Med
January 2025
Northwell, New Hyde Park, NY 11042, USA.
: According to the American Academy of Pediatrics and the American College of Obstetricians and Gynecologists, pregnant people facing periviable delivery should be counseled on expected neonatal outcomes and available pregnancy options. The objective of this study is to evaluate if rates of neonatology consultation and pregnancy option counseling for those facing periviable delivery differ based on social vulnerability factors or Social Vulnerability Index (SVI). : This was a retrospective cohort study of patients who delivered at 22 0/7 weeks to 25 6/7 weeks of gestation at two academic medical centers with level III or IV neonatal intensive care units from 2019 to 2022.
View Article and Find Full Text PDFPrenat 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.
J Obstet Gynaecol Can
January 2025
University of British Columbia, Department of Obstetrics and Gynaecology, Vancouver, British Columbia, Canada. Electronic address:
Objective: Termination of pregnancy in the 2/3 trimester for fetal or maternal complications (i.e., for medical reasons) is an essential health service.
View Article and Find Full Text PDFZ 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.
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