Women with a family history of a chromosomal or genetic abnormality must weigh several factors in choosing between amniocentesis and chorionic villus sampling. We compared the prenatal test choices of three such women with those of decision analytic models that incorporated their preferences. Patient preferences were assessed using visual linear rating scales. Threshold analysis was used to determine preference ranges, and stochastic sensitivity analysis to provide confidence levels, for each choice of test. The test choices of patients and decision analytic models agreed in one case, and disagreed in two cases. In one of the latter two cases, stochastic and threshold analyses showed the disagreement to be slight; for small shifts in preference differences for first- vs. second-trimester diagnosis, or first- vs. second-trimester therapeutic abortion, patient and decision model would have agreed. In the other, stochastic analysis showed their differences to be large; there were no thresholds for early diagnosis, or for early therapeutic abortion, that would have led to agreement between patient and model. In the two cases in which patient and decision model agreed or slightly disagreed, the patients had made their own choice of prenatal test. In the case in which patient and decision model strongly disagreed, the patient's physician had shared in the choice of test. Decision analysis can be useful in analyzing prenatal test choices based on individual preferences for pregnancy outcomes. When choices of patients and decision models do not agree, examination of the locus of decision making (patient vs. physician) may help resolve apparent differences.
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http://dx.doi.org/10.1002/ajmg.1320580407 | DOI Listing |
J Assist Reprod Genet
January 2025
University of Melbourne, Parkville, Australia, VIC.
Purpose: Professional bodies currently advise all pregnant individuals undertake confirmatory prenatal diagnostic testing following preimplantation genetic testing for monogenic conditions (PGT-M). We aimed to ascertain the uptake of prenatal diagnostic testing following PGT-M in a large single-centre population.
Methods: This observational linkage study was undertaken using routinely collected outcome data from PGT-M cycles performed at one of Australia's largest PGT-M providers and a statewide dataset of all prenatal samples undergoing cytogenetic analysis in Victoria, Australia, between 2015 and 2022.
Cureus
December 2024
Maternal Fetal Medicine, Michigan State University College of Human Medicine/Corewell Health, Grand Rapids, USA.
The noninvasive prenatal test (NIPT) for genetic screening has been adopted globally as an alternative to first-trimester and quad screening due to its high sensitivity and specificity. NIPT involves detecting and processing foreign fetal DNA in maternal circulation to screen for fetal aneuploidy. An incidental consequence of this process is the detection of foreign tumor cell DNA in maternal circulation in otherwise asymptomatic patients.
View Article and Find Full Text PDFMed Sci (Basel)
December 2024
Department of Medical Genetics, Faculty of Medicine, Medical University of Varna, 9002 Varna, Bulgaria.
: NIPT is a widely implemented method for prenatal screening of chromosomal disorders. Its introduction initiated the practice of counseling women pre- and post-analytically. Since the test's usage is established in different conditions, comparing data from various socioeconomic and cultural backgrounds would be of scientific value.
View Article and Find Full Text PDFBMC Med Educ
January 2025
Department of Obstetrics and Prenatal Medicine, University Hospital Bonn, Venusberg Campus 1, Bonn, 53127, Germany.
Introduction: The technical development of ultrasound devices based on silicon chips has revolutionized ultrasound examinations, leading to the implementation of these portable handheld devices (PUD) in different medical fields. However, training on these devices is necessary to assure appropriate use and ensure valid results. While training programs for the use of conventional standard ultrasound devices (SUD) have been described, no training program for these handheld devices has been developed thus far.
View Article and Find Full Text PDFBMC Pregnancy Childbirth
January 2025
Department of Disease Control, London School of Hygiene and Tropical Medicine, London, UK.
Introduction: Male engagement in HIV testing during pregnancy significantly contributes towards the prevention of maternal seroconversion and paediatric HIV acquisition. Despite this, men especially the male partners of pregnant women have been consistently missing in the HIV prevention cascade. The factors accounting for sub-optimal levels in male engagement intersect but reasons for this are poorly understood.
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