ADDF Invests $1.18M to Standardize p-tau217 Blood Tests for Alzheimer’s Diagnosis

GSK Reports Positive Interim Results for DREAMM-7 Trial of Blenrep in Multiple Myeloma

Molbio Diagnostics Invests $30 Million in OptraSCAN to Revolutionize Digital Pathology

BioNTech Acquires Chinese Oncology Firm Biotheus for $950M

The Care and Protection of Children Trust

CPCT Launches Groundbreaking Initiative to Provide Lifelong Free Treatment for Children with Spinal Muscular Atrophy (SMA) in Karnataka

Early Comprehensive Genomic Profiling Improves Cancer Treatment Outcomes, Study Shows

EMA Reverses Decision, Recommends Limited Approval for Eisai and Biogen’s Alzheimer’s Drug Leqembi

Exact Sciences Unveils Advances in Multi-Cancer Early Detection with Cancerguard™ Test

MSD and LaNova Medicines Enter Exclusive Global License Agreement for Novel Cancer Therapy, LM-299

Promising CAR T Cell Therapies from BMS and Cabaletta Bio Show Potential for Durable Remission in Severe Lupus

FDA Grants Accelerated Approval to PTC Therapeutics' KEBILIDI™, the First Gene Therapy for AADC Deficiency in the U.S.

Association for Molecular Pathology Publishes Joint Consensus Report on SARS-CoV-2 Genomic Surveillance for Hospitals and Public Health Laboratories

Philips India Unveils Advanced Azurion Imaging System to Revolutionize Cardiac and Neurovascular Care

Tempus AI Study Highlights Benefits of Dual RNA and DNA Sequencing for Advanced Lung Cancer

Ontada and Datavant Partner to Expand Access to Real-World Oncology Data for Accelerated Cancer Innovation

Home
/
insight
/
details

Addressing Rare Disease by NIPT – A Topic of Debate

NextEdge Admin

08 Jan 2024

3 min 34 sec

Non-Invasive Prenatal Testing,Whole Genome Sequencing (WGS)

Non-Invasive Prenatal Testing (NIPT) is a technology primarily used for screening common chromosomal abnormalities in a developing fetus. It involves analyzing cell-free DNA (cfDNA) from the mother’s blood to identify potential genetic conditions such as Down syndrome (Trisomy 21), Edwards syndrome (Trisomy 18), and Patau syndrome (Trisomy 13).

It can sometimes provide valuable information about certain genetic conditions beyond the common trisomies. Here are some ways NIPT might contribute to addressing rare diseases:

1. Expanded Panels: Some NIPT providers offer expanded panels that include the screening of additional chromosomal abnormalities. These panels may include microdeletion and microduplication syndromes, which are often associated with rare genetic disorders. However, it’s important to note that these panels might not cover all rare diseases.

2. Whole Genome Sequencing (WGS) and Whole Exome Sequencing (WES): Traditional NIPT focuses on specific chromosomal regions, but emerging technologies, such as WGS and WES, enable a more comprehensive analysis of the entire genome or exome. These methods can potentially detect a broader range of genetic abnormalities, including rare diseases.

3. Research and Discovery: As more data is collected through NIPT, researchers can use this information to better understand genetic variations and identify associations with rare diseases. This can contribute to the ongoing research and development of diagnostic tools and therapeutic interventions for rare genetic conditions.

4. Customized Testing: In some cases, healthcare providers may customize NIPT to include specific genetic markers associated with certain rare diseases if there is a known risk based on the family’s medical history or previous pregnancies.

It’s important to note that NIPT has its limitations. It is a screening tool and not a diagnostic test. Positive results from NIPT should be confirmed through invasive diagnostic procedures such as chorionic villus sampling (CVS) or amniocentesis.

Moreover, the utility of NIPT in addressing rare diseases depends on the specific rare conditions and whether the relevant genetic markers are included in the testing panels. As technology advances, there may be continued improvements in the ability of NIPT to contribute to the understanding and identification of rare diseases during pregnancy. Always consult with healthcare professionals to understand the limitations and capabilities of the available screening options.