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.