The rate of twinning is rising and since the introduction of non-invasive prenatal testing, interest in and uptake of genetic screening and testing in twin pregnancies has not been investigated. This study aimed to explore the attitudes toward and uptake of current prenatal genetic screening and diagnostic testing options for fetal aneuploidy in twin pregnancies. Women being seen for genetic counseling with twin gestations were recruited for participation in a descriptive study with questionnaire (n = 42) and semi-structured phone interview (n = 15). Women were significantly more in favor of screening than diagnostic testing (p = 0.049). Sixty-nine (n = 25) percent elected screening, while one participant had a diagnostic procedure. Women were interested in screening for preparation or reassurance despite having concerns about accuracy and uncertainty. Most women (86%) felt they would make the same decision in a singleton pregnancy. Despite this, 48% cited twin pregnancy as influential to some degree. Information learned from providers, past experiences, and family and friends were also cited as influencing and anchoring factors, suggesting that tailoring prenatal genetic counseling sessions for twins might parallel that of singletons. No significant differences between natural and assisted conception patients were found. Although it did not alter patient decisions, genetic counseling was used as a platform to raise concerns and gather information.
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http://dx.doi.org/10.1007/s10897-018-0246-4 | 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.
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.
View Article and Find Full Text PDFJ Allergy Clin Immunol Glob
February 2025
Department of Molecular Medicine, Sapienza University, Rome, Italy.
Background: Many patients with X-linked agammaglobulinemia (XLA) nowadays have reached adulthood, as well as their sisters, possibly carriers of a deleterious Bruton tyrosine kinase variant. Studies on motherhood outcomes in families with XLA are lacking.
Objective: We sought to investigate adherence to carrier status screening, interest in preconception and prenatal genetic counseling, and reproductive decisions in relatives with XLA.
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