Aim: The aim of this study is to assess the replacement of chromosomal analysis of chorionic villi (CV) direct preparation samples (DIR) by quantitative fluorescence PCR (QF-PCR) and to determine its advantages in routine prenatal diagnosis.
Methods: From a total of 4,020 CV samples, rapid results were obtained either by conventional cytogenetic analysis of DIR in 2,770 samples, or by QF-PCR analysis in 1,250 samples. The final results were given after long-term culture (LTC).
Results: The frequencies of unbalanced fetal karyotypes were not significantly different, being 4.8% by DIR-LTC and 4.3% by QF-PCR-LTC. No false-negative or false-positive results were obtained from either approach.
Conclusion: QF-PCR can replace chromosomal analysis of CV-DIR in most cases during routine prenatal diagnosis, requiring smaller CV samples and being more labor effective. Coupled with LTC, it is a robust diagnostic approach with high predictive value for the most frequent fetal trisomies.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1159/000240671 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
<b>Background and Objective:</b> In jojoba plants, the sex is usually difficult to identify, especially before flowering and during the very early stages of development. This stage is expected to facilitate breeding programs and adopt an invention and approach to isolate the GPAT gene identified between males and females: The study aimed at early diagnosis of sex in jojoba by sequence characterized by GPAT gene of sex-determining by simplex PCR. To prove the existence of the GPAT gene in male jojoba plants which may be the sex determination and identification in all plant systems.
View Article and Find Full Text PDFOlutasidenib in combination with azacitidine induces durable complete remissions in patients with relapsed or refractory mIDH1 acute myeloid leukemia: a multicohort open-label phase 1/2 trial.
J Hematol Oncol
January 2025
Sylvester Comprehensive Cancer Center, University of Miami, Miami, FL, USA.
Background: Olutasidenib is a potent, selective, oral, small molecule inhibitor of mutant IDH1 (mIDH1) which induced durable remissions in high-risk, relapsed/refractory (R/R) mIDH1 AML patients in a phase 1/2 trial. We present a pooled analysis from multiple cohorts of the phase 1/2 trial of patients with R/R AML who received combination olutasidenib and azacitidine therapy.
Methods: Adult patients with mIDH1 AML received 150 mg olutasidenib twice daily plus standard-of-care azacitidine (OLU + AZA) and were evaluated for response and safety.
Inverse dose protraction effects of high-LET radiation: evidence and significance.
Mutat Res Rev Mutat Res
January 2025
Radiation Epidemiology Branch, National Cancer Institute, MD 20892-9778, USA; Faculty of Health, Science and Technology, Oxford Brookes University, Headington Campus, OX3 0BP, UK.
Biological effects of ionizing radiation vary with radiation quality, which is often expressed as the amount of energy deposited per unit length, i.e., linear energy transfer (LET).
View Article and Find Full Text PDFConstruction of a stromal-related prognostic model in acute myeloid leukemia by comprehensive bioinformatics analysis.
Curr Res Transl Med
January 2025
Department of Hematology and Blood Banking, School of Allied Medical Sciences, Shahid Beheshti University of Medical Sciences, Tehran, Iran; Hematology-Oncology and Stem Cell Transplantation Research Center, Tehran University of Medical Sciences, Tehran, Iran. Electronic address:
Background: Stromal cells play a pivotal role in the tumor microenvironment (TME), significantly impacting the progression of acute myeloid leukemia (AML). This study sought to develop a stromal-related prognostic model for AML, aiming to uncover novel prognostic markers and therapeutic targets.
Methods: RNA expression data and clinical profiles of AML patients were retrieved from the Cancer Genome Atlas (TCGA).
Lampbrush chromosomes of Danio rerio.
Chromosome Res
January 2025
Saint-Petersburg State University, Saint-Petersburg, Russia.
Danio rerio, commonly known as zebrafish, is an established model organism for the developmental and cell biology studies. Although significant progress has been made in the analysis of the D. rerio genome, cytogenetic studies face challenges due to the unclear identification of chromosomes.
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!