Reproductive Health
News on noninvasive prenatal testing, carrier screening, and preimplantation genetic screening.
Yourgene Health Cystic Fibrosis Assay Receives IVDR Certification
The assay uses amplification-refractory mutation system (ARMS) technology and genetic analyzers to detect the 50 most common CF mutations in European ancestry populations.
Genetic Testing Challenges in Precision Medicine: Parents' Tragedy After Wrong Tay-Sachs Test Order
A physician orders targeted HEXA sequencing when full sequencing is warranted during a high-risk couple's preconception screening, leading to dire consequences.
Early IDENTIFY Trial Results Suggest Half of Women With Non-Reportable NIPT Result Have Cancer
At the American College of Medical Genetics and Genomics annual meeting, NICHD Director Diana Bianchi reported that whole-body MRI was the best follow-up test to confirm or rule out cancer.
Researchers have flagged 99 genes related to muscle contractility related to spontaneous preterm birth, along with nine potentially therapeutic drugs that target them.
Many Genetic Counselors Want to Be Involved With Reproductive Justice Advocacy, But 'Unsure' How
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In a survey, genetic counselors said that while not knowing how to get involved is a main barrier, educational resources could help bridge that gap.