Related Experiment Video

Updated: Jul 19, 2026

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
09:30

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

Published on: August 17, 2022

Commercial kit-based diagnosis is not enough for prenatal testing of beta-thalassemia: pitfalls in diagnostic

Alessandra Ferlini, Anna Ravani, Anna Venturoli

    Prenatal Diagnosis
    |October 10, 2006
    PubMed
    Abstract

    No abstract available in PubMed .

    More Related Videos

    Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
    09:03

    Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

    Published on: August 25, 2019

    FISH for Pre-implantation Genetic Diagnosis
    07:34

    FISH for Pre-implantation Genetic Diagnosis

    Published on: February 23, 2011

    Related Experiment Videos

    Last Updated: Jul 19, 2026

    Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
    09:30

    Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

    Published on: August 17, 2022

    Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
    09:03

    Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

    Published on: August 25, 2019

    FISH for Pre-implantation Genetic Diagnosis
    07:34

    FISH for Pre-implantation Genetic Diagnosis

    Published on: February 23, 2011

    Related Concept Videos

    Karyotyping01:17

    Karyotyping

    Describing the number and physical features of chromosomes can reveal abnormalities that underlie genetic diseases. This description is facilitated by special staining techniques that produce a particular banding pattern on each chromosome. State-of-the-art techniques make this approach even more powerful, enabling the detection of individual genes that cause disease.A Simple Chromosome Staining Technique Provides Valuable Scientific InsightSome genetic diseases can be detected by looking at...

    Articles linked to this work by shared authors, journal, and citation graph.

    Variants in TREX complex subunits (THOC2, ALYREF, THOC6, THOC7) define a neurodevelopmental disability spectrum.

    Genetics in medicine : official journal of the American College of Medical Genetics·2026

    Clinical, Transcriptional and Haplotype Characterization of Recurrent MYBPC3 Splice-Site Variants c.1458-1G>A and c.3331-1G>A Associated with Hypertrophic Cardiomyopathy in Northern Italy.

    Genes·2026

    What Is at Stake in Genetic Newborn Screening for Rare Diseases? An Exploratory Qualitative Study of Parents' and Expectant Parents' Concerns in the Screen4Care Project.

    Public health genomics·2026

    European Reference Networks as core health structures where referring genetic newborn screening positive infants: an innovative operational research framework.

    Frontiers in public health·2026

    Chung-Jansen Syndrome in a Young Woman with a PHIP Variant: Severe Obesity, Intellectual Disability, and Endocrine Abnormalities.

    Journal of clinical medicine·2026

    Correlative multimodal imaging for microscale spatial mapping of collagen-gene activity interactions in human tissues.

    Npj imaging·2026

    Where in the Prenatal Screening Pathway do Ethnic and Socioeconomic Inequalities Occur? A UK Retrospective Cohort Study.

    Prenatal diagnosis·2026

    Current Practices in Antenatal CMV Testing and Management in Belgium.

    Prenatal diagnosis·2026

    Genetic Investigation of Pregnancies With an Isolated Fetal Pelvic Kidney.

    Prenatal diagnosis·2026

    From Isolated to Complex: Diagnostic Yield of Chromosomal Microarray and Exome Sequencing in Fetal Growth Restriction.

    Prenatal diagnosis·2026

    Universal Prenatal cfDNA-Single Gene Disorder Screening for Autosomal Dominant Conditions in a Low-Risk Cohort: A Cost-Effectiveness Analysis.

    Prenatal diagnosis·2026

    Clinical Performance Evaluation of Size-Selective Placental Cell-Free DNA Enrichment for Non-Invasive Prenatal Testing of Fetal Copy Number Variants.

    Prenatal diagnosis·2026

    Biomarker and Bioorthogonality Dual-Locked Chemiluminescent Probes for Cancer Urine Test.

    Angewandte Chemie (International ed. in English)·2026

    [Guidelines for the diagnosis and management of multiple myeloma in China (2026 revision)].

    Zhonghua nei ke za zhi·2026

    Urine dipstick test for assessing albumin-to-creatinine ratio: a pilot study and the potential impact on chronic kidney disease screening.

    BMC nephrology·2026

    EUS-guided and US-guided percutaneous splenic biopsy: a systematic review and meta-analysis of separately pooled diagnostic and safety outcomes.

    BMC gastroenterology·2026

    Real-time CT/MR fusion imaging-guided core needle biopsy: enhancing diagnostic precision in head and neck lesions.

    Insights into imaging·2026

    Retrospective Evaluation of the D-Dimer in Patients Undergoing CTPA for PE Evaluation.

    Academic radiology·2026
    See all related articles
    JoVE
    x logofacebook logolinkedin logoyoutube logo
    ABOUT JoVE
    OverviewLeadershipBlogJoVE Help Center
    AUTHORS
    Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
    LIBRARIANS
    TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
    RESEARCH
    JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
    EDUCATION
    JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
    Terms & Conditions of Use
    Privacy Policy
    Policies
    Jove
    Visualize
    Contact Us