Prenatal testing for Down syndrome through the use of non-invasive prenatal testing (NIPT) has been increasingly implemented in clinical practice and a recent cost analysis suggests that NIPT is cost effective when compared to other screening modalities in high risk populations. However, this anaylsis makes many assumptions regarding uptake of testing and pregnancy termination, which cannot be applied to all populations in the United States. Additionally, this cost analysis, which hinges on fewer Down syndrome births, does not align with the goals of prenatal testing to support autonomous and value consistent decisions. NIPT is an expensive new technology and more careful analysis is needed to determine the impact of NIPT on outcomes and overall healthcare costs.
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http://dx.doi.org/10.3109/14767058.2013.820699 | DOI Listing |
J Assist Reprod Genet
January 2025
Medical Genetics & Genomics Unit, AULSS8 Berica, Vicenza, Italy.
This document aims to provide good practice recommendations in order to support maternal-foetal medicine specialists, clinical geneticists and clinical laboratory geneticists in the management of pregnancies obtained after the transfer of an embryo tested with preimplantation genetic testing (PGT). It was drafted by geneticists expert in preimplantation genetics and prenatal genetic diagnosis belonging to the "Working Group in Cytogenomics, Prenatal and Reproductive Genetics" of the "Italian Society of Human Genetics" (SIGU). In particular, the paper addresses the diagnostic algorithm to be applied in prenatal follow-up depending on the type of PGT performed, the results obtained and the related diagnostic value based on the most recent literature data and Italian and international recommendations.
View Article and Find Full Text PDFPrenat Diagn
January 2025
Center for Fetal Medicine and Pregnancy, Department of Gynecology, Fertility, and Pregnancy, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.
Objective: To evaluate the prevalence of chromosomal aberrations in fetuses with isolated PRUV in a nationwide cohort with 1st-trimester screening for aneuploidies.
Method: A retrospective study including all pregnancies in Denmark with a due date between 2010 and 2022. We retrieved all cases from patient files, where we searched for "PRUV" in the conclusion field.
Arch Gynecol Obstet
January 2025
Faculty of Medicine and Health Sciences, Tel Aviv University, Tel Aviv, Israel.
Purpose: To quantify the separation between maternal blood cell-free (cf)DNA markers in preeclampsia and unaffected pregnancies and compare with existing markers. This approach has not been used in previous studies.
Methods: Comprehensive systematic literature search of PubMed to identify studies measuring total cfDNA, fetal cf(f)DNA or the fetal fraction (FF) in pregnant women.
Rev Esc Enferm USP
January 2025
Universidade Federal do Maranhão, Departamento de Medicina I, São Luís, MA, Brazil.
Objective: To analyze the prevalence of prenatal tests of pregnant women and factors associated with variation in this prevalence in the years of the Brazilian National Health Survey 2013 and 2019.
Method: A cross-sectional study, carried out with women who underwent prenatal care, interviewed in the Brazilian National Health Survey 2013 (n = 1,851) and 2019 (n = 2,729).
Results: The most prevalent tests were urine and blood, and the least prevalent were syphilis and HIV.
Metab Brain Dis
January 2025
Department of Biochemistry and Molecular Biology, Faculty of Veterinary Medicine, Shahid Chamran University of Ahvaz, Ahvaz, Iran.
This research seeks to address the gap in past studies by examining the role of the Nrf2 (nuclear factor erythroid 2-related factor 2) and HO-1 (heme oxygenase-1) signaling pathways in hypoxia and the potential effects of alpha-pinene on these factors. Wistar rats were divided into 7 experimental groups (n = 7): 1) control, 2 and 3) groups receiving alpha-pinene 5 and 10 mg/kg (i.p.
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