Background: During preimplantation development, single aneuploidies are more commonly tolerated than complex aneuploidies. Some studies have reported that blastocysts with aneuploid karyotypes on Day-3 embryo biopsy can exhibit a normal karyotype on Day-5 rebiopsy, suggesting that single aneuploidies may have a higher likelihood of presenting a normal karyotype on Day-5. The purpose of the current study was to assess the benefit of reanalyzing the karyotypes of Day-3 single aneuploid embryos on Day-5.
Methods: Day-3 and Day-5 biopsies of preimplantation embryos were subjected to array comparative genomic hybridization (aCGH). A proof of concept case series study was conducted involving 13 Day-5 embryos from 4 couples across 3 ART centers, collected between October 2019 and June 2020. Each center provided one normal embryo and 3-4 embryos with single aneuploidy based on Day-3 aCGH results. The karyotype of each Day-5 embryo was compared with its corresponding Day-3 karyotype.
Results: Among the 10 embryos with single aneuploidy on Day-3, 3 (30%) exhibited discordant karyotypes on Day-5, while the remaining 7 single aneuploid embryos and 3 normal embryos maintained the same karyotype from Day-3 to Day-5. None of the Day-3 single aneuploid embryos displayed a normal karyotype on Day-5.
Conclusion: Contrary to previous reports suggesting the potential correction of single aneuploidies in some embryos, the findings of this study did not support such a possibility in the analyzed embryos. Genomic reanalysis of Day-3 single aneuploid embryos on Day-5 does not appear to be a reliable method for identifying euploid embryos suitable for transfer.
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http://dx.doi.org/10.18502/jri.v25i1.15200 | DOI Listing |
F S Rep
December 2024
Department of Obstetrics and Gynecology, University of South Florida, Morsani College of Medicine, Tampa, Florida.
Objective: To compare pregnancy outcomes after single blastocyst embryo transfer among patients whose first autologous embryo transfer was either a fresh embryo transfer or a frozen embryo transfer (FET) after a freeze-all, in the absence of preimplantation genetic testing for aneuploidy (PGT-A).
Design: A multicenter retrospective cohort analysis.
Setting: National multicenter fertility practice.
J Clin Med
December 2024
Faculty of Medicine, University of Salamanca (USAL), 37007 Salamanca, Spain.
Single umbilical artery (SUA) is considered an ultrasound marker of anomalies. Although it may be present in about 0.5% to 6% of normal pregnancies, it has been linked with an increased risk of fetal growth restriction (FGR), as well as cardiac, genitourinary and gastrointestinal malformations and chromosomal anomalies such as trisomies 21 and 18.
View Article and Find Full Text PDFPrenat Diagn
January 2025
Discipline of Women's Health, University of New South Wales, Randwick, Australia.
Introduction: Genome-wide non-invasive prenatal testing (gwNIPT) has screening limitations for detectable genetic conditions and cannot detect microdeletions/microduplications (MD) or triploidy. Nuchal translucency (NT) increases with gestation and with genetic or structural abnormalities. This study aims to determine the utility of NT measurement in detecting genetic abnormalities not identified by gwNIPT and the optimal NT threshold value.
View Article and Find Full Text PDFJ Assist Reprod Genet
January 2025
Medical Genetics Laboratory, Shiraz Fertility Center, Shiraz, Iran.
Purpose: Preimplantation aneuploidy in humans is one of the primary causes of implantation failure and embryo miscarriage. This study was conducted to gain insight into gene expression changes that may result from aneuploidy in blastocysts through RNA-Seq analysis.
Methods: The surplus embryos of preimplantation genetic testing for aneuploidy (PGT-A) candidate couples with normal karyotype and maternal age < 38 were collected following identical ovarian stimulation protocol.
Clin Chem
January 2025
Department of Pathology, University of Utah School of Medicine, Salt Lake City, UT, United States.
Background: Structural variation (SV), defined as balanced and unbalanced chromosomal rearrangements >1 kb, is a major contributor to germline and neoplastic disease. Large variants have historically been evaluated by chromosome analysis and now are commonly recognized by chromosomal microarray analysis (CMA). The increasing application of genome sequencing (GS) in the clinic and the relatively high incidence of chromosomal abnormalities in sick newborns and children highlights the need for accurate SV interpretation and reporting.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!