Related Experiment Video

Updated: Nov 8, 2025

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

3.3K

Fetal screening and whole genome sequencing: where are the limits?

Susan Hancock1, Katherine Johansen Taber1, James D Goldberg1

  • 1Department of Medical Affairs, Myriad Women's Health, South San Francisco, CA, USA.

Expert Review of Molecular Diagnostics
|April 19, 2021
PubMed
Abstract

No abstract available in PubMed .

Keywords:
Noninvasive prenatal screeningcarrier screeningcell-free DNAnoninvasive prenatal diagnosiswhole-genome sequencing

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

9.6K
FISH for Pre-implantation Genetic Diagnosis
07:34

FISH for Pre-implantation Genetic Diagnosis

Published on: February 23, 2011

37.5K

Related Experiment Videos

Last Updated: Nov 8, 2025

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

3.3K
Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
09:03

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

Published on: August 25, 2019

9.6K
FISH for Pre-implantation Genetic Diagnosis
07:34

FISH for Pre-implantation Genetic Diagnosis

Published on: February 23, 2011

37.5K

Related Concept Videos

Genetic Screens02:46

Genetic Screens

5.3K
Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing  genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which...
5.3K
Next-generation Sequencing03:00

Next-generation Sequencing

95.4K
The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features....
95.4K

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

Personalized whole-genome-based ctDNA dynamics during neoadjuvant therapy across breast cancer subtypes: results from MONITOR-Breast.

Future oncology (London, England)·2026

Outcomes and Management of Pregnancies Screening Positive for Microdeletions 22q11.2, 15q11.2, 1p36, 4p, or 5p: A Retrospective Cohort Study.

The application of clinical genetics·2026

Real-world pharmacotherapy treatment patterns among patients diagnosed with postpartum depression in the United States.

BMC psychiatry·2025

Screening Positive for Rare Autosomal Aneuploidies Increases Frequency of Adverse Pregnancy Outcomes and Alters Clinical Management.

Prenatal diagnosis·2025

High positive predictive value 22q11.2 microdeletion screening by prenatal cell-free DNA testing that incorporates fetal fraction amplification.

Prenatal diagnosis·2024

Expanded carrier screening: What conditions should we screen for?

Prenatal diagnosis·2023

Analytical and clinical performance of a novel DiaRD CMV qPCR assay for cytomegalovirus DNA quantification: a comparative study with the artus CMV RG PCR kit.

Expert review of molecular diagnostics·2026

Dual germline BRCA and mismatch-repair mutations: a narrative review.

Expert review of molecular diagnostics·2026

The 21-gene recurrence score assay as a tool for predicting recurrence risk and guiding adjuvant treatment selection in early breast cancer.

Expert review of molecular diagnostics·2026

Theranostic innovation in infectious lung diseases: integrating biotechnology and nanotechnology for precision medicine.

Expert review of molecular diagnostics·2026

The expanding role of artificial intelligence in medical diagnosis: from molecular diagnostics and multi-omics to digital health and medical imaging.

Expert review of molecular diagnostics·2026

Protein signatures for the early detection of endometrial cancer in cervico-vaginal fluid.

Expert review of molecular diagnostics·2026

Neuropathologic Features of Adult-Onset Progressive Leukodystrophy Due to KARS Pathogenic Variants: A Case Report.

Neurology. Genetics·2026

Unmasked Behavioral Disturbance Following Traumatic Brain Injury in an Adult With Previously Undiagnosed Sotos Syndrome.

Cureus·2026

Genetic profile of motor neuron disease in a multiregional Brazilian cohort: an 18-year real-world experience in 1,911 patients.

Frontiers in neurology·2026

Distinct neurogenic progenitor cell populations balance cell type production in the embryonic mouse retina.

bioRxiv : the preprint server for biology·2026

Biallelic protein truncating EXOSC6 variants cause a neurodevelopmental disorder with cerebellar atrophy, ataxia, and global developmental delay.

medRxiv : the preprint server for health sciences·2026

Germline NF2 variant position constrains somatic second hits and determines clinical severity in Neurofibromatosis Type 2-related schwannomatosis.

medRxiv : the preprint server for health sciences·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