Background: Non-invasive prenatal testing has the potential to be a useful genetic screening tool in Australia. However, concerns have been raised about its cost, commercial provision, the psychological impacts of the screening process, and disparities in access experienced by rural and regional communities.
Aims: The aims of this study are (1) to estimate Australian preferences for features of prenatal screening; (2) to explore potential variations in preferences between metropolitan and rural/regional communities; (3) to estimate the extent to which respondents are willing to trade-off between attributes, using willingness to pay (WTP) and willingness to wait estimates.
Methods: A discrete choice experiment (DCE) was conducted with 12 choice tasks. The DCE recruited participants from metropolitan (n = 160) and rural/regional (n = 168) locations across Australia. Mixed logit and latent class analyses were conducted and WTP and willingness to wait were calculated.
Results: Both metropolitan and rural/regional preferences were significantly impacted by the false-positive rate, false-negative rate, and cost. In addition, rural preferences were significantly impacted by the scope of the conditions covered, the inconclusive rate, and wait times. The number of screening tests and revealing the sex of the foetus were not significant within either group. Willingness to pay estimates ranged from AU$13 to avoid a test with a 1% increase in the false-positive rate to AU$323 to screen for a wide range of conditions.
Conclusions: This study highlights the importance of considering differing preferences between rural and metropolitan populations when delivering prenatal screening. Further, this study provides Australian-specific WTP estimates to be incorporated into economic evaluations.
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http://dx.doi.org/10.1007/s40258-024-00938-5 | DOI Listing |
Front Public Health
January 2025
Department of Public Health Medicine, Faculty of Medicine, Universiti Kebangsaan Malaysia, Kuala Lumpur, Malaysia.
Fear of childbirth (FOC) or tokophobia adversely affects women during pregnancy, delivery, and postpartum. Childbirth fear may differ across regions and cultures. We aimed to identify factors influencing the fear of childbirth among the Asian population.
View Article and Find Full Text PDFFront Pediatr
January 2025
Department of Neurology, Second Affiliated Hospital of Fujian Medical University, Quanzhou, China.
Background: Whole exome sequencing (WES) technology has been increasingly used for the etiological diagnosis of fetuses with ultrasound anomalies. In this article, we report a novel deletion compound combined with a causative variant in gene leading to short-rib thoracic dysplasia 7 (SRTD7) with or without polydactyly using WES.
Methods: This study involved a Chinese fetus with clinical features of skeletal dysplasia on ultrasound imaging, in whom chromosome abnormalities and copy number variants (CNVs) were detected by chromosomal microarray analysis (CMA), and sequence variants were detected by WES.
Diagnosis (Berl)
January 2025
Faculty of Associated Medical Sciences, Centre for Research and Development of Medical Diagnostic Laboratories, Khon Kaen University, Khon Kaen, Thailand.
Objectives: This study reported a large cohort of fetal blood analysis of various hemoglobinopathies.
Methods: A total of 371 fetal blood specimens were recruited. Complete blood count and hemoglobin (Hb) analysis using capillary electrophoresis were performed.
Echocardiography
February 2025
Department of Obstetrics and Gynecology, Ministry of Health, Ankara City Hospital, Ankara, Turkey.
Purpose: To investigate fetal cardiac functions and remodeling in pregnancies conceived via in vitro fertilization (IVF).
Methods: This prospective case-control study included 40 singleton IVF pregnancies and 46 uncomplicated control pregnancies at 28-36 weeks of gestation. The IVF group consisted of pregnancies applied to the outpatient clinic, excluding those with anatomical or chromosomal abnormalities.
BMC Genomics
January 2025
Department of Obstetrics and Gynecology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Jiefang Avenue 1095, Wuhan, Hubei, 430030, China.
Background: Left-right (LR) asymmetry disorders present a complex etiology, with genetic factors emerging as a primary contributor. This study aims to explore the genetic underpinnings of chromosomal variants and individual genes in fetuses afflicted with prenatal LR asymmetry disorder.
Methods: Through a retrospective analysis conducted between 2020 and 2023 at Tongji Hospital, Huazhong University of Science and Technology, genetic outcomes of LR asymmetric disorder were scrutinized utilizing copy number variation sequencing (CNV-seq) and whole exome sequencing (WES) methodologies.
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