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Progenity Resura Prenatal Test for Monogenic Disease; Innatal Prenatal Screen

Progenity has launched the Resura prenatal test for monogenic disease, a customizable, noninvasive prenatal test (NIPT) for single-gene disorders. The test is available to families with known risk for monogenic disease such as cystic fibrosis, sickle cell anemia, and Tay-Sachs disease. The test, which was developed using droplet digital PCR, uses fetal cell-free DNA extracted from a sample of the mother's blood, and can be performed on disease-causing variants of all inheritance types, including recessive, dominant, and X-linked genetic mutations.

Progenity also announced improvements to its Innatal prenatal screen, a NIPT for chromosomal aneuploidies that now provides greater specificity and sensitivity in evaluating aneuploidy across all chromosomes. Specifically, the sequencing-based test has been enhanced in terms of detecting aneuploidies in chromosomes 21, 18, 13, X, and Y, the company said.

The Scan

Interfering With Invasive Mussels

The Chicago Tribune reports that researchers are studying whether RNA interference- or CRISPR-based approaches can combat invasive freshwater mussels.

Participation Analysis

A new study finds that women tend to participate less at scientific meetings but that some changes can lead to increased involvement, the Guardian reports.

Right Whales' Decline

A research study plans to use genetic analysis to gain insight into population decline among North American right whales, according to CBC.

Science Papers Tie Rare Mutations to Short Stature, Immunodeficiency; Present Single-Cell Transcriptomics Map

In Science this week: pair of mutations in one gene uncovered in brothers with short stature and immunodeficiency, and more.