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

Advancements in Expanded Carrier Screening: Empowering Informed Reproductive Choices

NextEdge Admin

21 Apr 2024

2 min 34 sec

Carrier screening plays a vital role in identifying couples at risk of transmitting monogenic conditions to their offspring. Originally centered on specific single conditions and ethnic groups, this screening has transformed with the emergence of large-scale sequencing technologies, leading to a more inclusive approach called expanded carrier screening.

The evolution of expanded carrier screening platforms has seen continuous enhancements. Initial versions targeted specific genes, but subsequent iterations incorporated advanced techniques like full exon sequencing and copy number variant (CNV) analysis, significantly increasing sensitivity to pathogenic mutations across a broad spectrum of genetic disorders.

Expanded carrier screening panels cover a diverse array of diseases affecting different organ systems, including Cystic Fibrosis, Sickle Cell Disease, Tay-Sachs Disease, Spinal Muscular Atrophy (SMA), Duchenne Muscular Dystrophy (DMD), Fragile X Syndrome, Thalassemia, Hemophilia, Canavan Disease, and Gaucher Disease.

This approach provides prospective parents with a comprehensive analysis of monogenic conditions, enhancing their understanding of reproductive risks. It enables couples to make informed decisions preconceptionally, empowering them to take proactive measures to reduce the risk of having a child with an affected pregnancy. Options include in vitro fertilization (IVF) with preimplantation genetic testing for monogenic disease (PGT-M), using donor gametes without pathogenic variants, adoption, or choosing to avoid pregnancy altogether.

Whether implemented preconceptionally or during pregnancy, carrier screening equips couples with knowledge for informed choices about prenatal diagnostic testing and pregnancy management. The integration of expanded carrier screening into clinical practice signifies a significant stride toward personalized and comprehensive reproductive healthcare, offering a well-rounded approach to addressing genetic risks in family planning.