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Testing for Complications

Noninvasive prenatal testing can spot pregnancies that are at risk of complications or miscarriage, New Scientist reports.

By catching bits of fetal DNA that circulate in maternal blood, such tests can tell whether the fetus carries chromosomal abnormalities such as trisomy 21, Patau syndrome, or even mosaic trisomy 22, which leads to learning difficulties, it adds. New Scientist notes chromosomal abnormalities affect about 1 in 1,000 births.

But some chromosomal abnormalities are much more rare and are linked to increased risk of miscarriage.

An Australian team says it can accurately tease out rare chromosomal abnormalities using whole-genome NIPT, New Scientist says. The team tested its approach and in the 90 cases in which it uncovered rare chromosomal abnormalities, 70 percent were also associated with pregnancy complications or miscarriage.

"Obstetricians have told us this information is useful so they can prepare themselves and their patients," Mark Pertile at the Victorian Clinical Genetic Services tells New Scientist. Prospective parents, it adds, may seek additional testing, counseling about a termination, or prepare for a possible miscarriage or coping with a child with disabilities.

The Scan

Wolf Howl Responses Offer Look at Vocal Behavior-Related Selection in Dogs

In dozens of domestic dogs listening to wolf vocalizations, researchers in Communication Biology see responses varying with age, sex, reproductive status, and a breed's evolutionary distance from wolves.

Facial Imaging-Based Genetic Diagnoses Appears to Get Boost With Three-Dimensional Approach

With data for more than 1,900 individuals affected by a range of genetic conditions, researchers compared facial phenotype-based diagnoses informed by 2D or 3D images in the European Journal of Human Genetics.

Survey Suggests Multigene Cancer Panel VUS Reporting May Vary Across Genetic Counselors

Investigators surveyed dozens of genetic counselors working in clinical or laboratory settings, uncovering attitudes around VUS reporting after multigene cancer panel testing in the Journal of Genetic Counseling.

Study Points to Tuberculosis Protection by Gaucher Disease Mutation

A mutation linked to Gaucher disease in the Ashkenazi Jewish population appears to boost Mycobacterium tuberculosis resistance in a zebrafish model of the lysosomal storage condition, a new PNAS study finds.