An ultrarapid three- and four-color primed in situ (PRINS) procedure has been developed for rapid chromosome identification and aneuploidy assessment on isolated cells. Based on the direct in situ mixing of fluorochromes (fluorescein isothiocyanate, tetramethylrhodamine isothiocyanate, Cascade Blue), this multicolor PRINS procedure is described on unfertilized human oocytes and isolated human blastomeres.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1385/1-59745-068-5:151 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
The association between the amount of fetal fraction in cell-free DNA testing and adverse pregnancy outcomes: A cohort study.
Int J Reprod Biomed
November 2024
Department of Obstetrics and Gynecology, Shariati Hospital, Tehran University of Medical Sciences, Tehran, Iran.
Background: Noninvasive perinatal testing is a new method of screening for aneuploidy called cell-free DNA (cfDNA). Fetal fraction (FF) plays a crucial role in assessing the reliability of aneuploidy detection through noninvasive perinatal testing.
Objective: We aimed to investigate the association between the amount of FF in cfDNA testing and adverse pregnancy outcomes.
Evaluation of utilization of amplified blastocoel fluid DNA gel electrophoresis band intensity as an additional minimally invasive approach in embryo selection: A cross-sectional study.
Int J Reprod Biomed
November 2024
Department of Genetics, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran.
Background: Embryo selection for transfer is critical in assisted reproduction. The presence of DNA in the blastocoel cavity of human blastocysts is assumed to be a consequence of common preimplantation chromosomal abnormalities.
Objective: This study examined the relationship between the amount of blastocoel fluid (BF) DNA and the band intensity of amplified BF-DNA in gel electrophoresis, considering the influence of ploidy status.
Advances in Prenatal Cell-Free DNA Screening for Dominant Monogenic Conditions: A Review of Current Progress and Future Directions in Clinical Implementation.
Prenat Diagn
January 2025
Key Laboratory of Reproductive Genetics (Ministry of Education) and Department of Reproductive Endocrinology, Women's Hospital, School of Medicine, Zhejiang University, Hangzhou, China.
Prenatal cell-free DNA (cfDNA) screening has advanced significantly, extending beyond detecting aneuploidies to sub-chromosomal copy number variations. However, its application for screening dominant single-gene conditions, often caused by de novo variants, remains underutilized in the general obstetric population. This study reviews recent data and experience on prenatal cfDNA screening for dominant monogenic conditions using multiple-gene panels, highlighting its potential to enhance early detection and management of genetic disorders.
View Article and Find Full Text PDFGene copy deletion of STK11, KEAP1, and SMARCA4: clinicopathologic features and association with outcomes to immunotherapy +/- chemotherapy in nonsquamous non-small cell lung cancer.
J Thorac Oncol
January 2025
Thoracic Oncology Service, Memorial Sloan Kettering Cancer Center, New York, NY, USA. Electronic address:
Background: Mutations in STK11, KEAP1, and SMARCA4 predispose to inferior immune checkpoint inhibitor (ICI) efficacy in non-small cell lung cancer (NSCLC), particularly among KRAS-mutant cases. However, the frequency, clinicopathologic features, and clinical impact of deletions in these genes are poorly characterized.
Methods: Clinicopathologic correlates of STK11, KEAP1, and SMARCA4 deletion were analyzed in nonsquamous NSCLCs at Dana-Farber Cancer Institute (DFCI).
Perinatal Outcomes and Management of Umbilical Vein Varix: A Comprehensive Review of 392 Cases.
J Clin Med
January 2025
Department of Obstetrics and Gynecology, University of Arkansas for Medical Sciences, 4301 W. Markham St. Slot # 518, Little Rock, AR 72205, USA.
Case reports and case series have linked umbilical vein varices (UVVs) with adverse pregnancy outcomes. Newer case reports and series suggest better perinatal outcomes in cases with an isolated UVV. The purpose of this literature review is to determine if there is commonality in management, outcomes, and association in pregnancy with UVV and fetal aneuploidy, growth restriction, demise, thrombosis, and turbulent flow.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!