The market in pregnancy wellness has grown to almost $2 billion as new parents increasingly invest in books, diets, and yoga classes all dedicated to ensuring their baby will be as healthy as possible when arriving. The potential for genetic diseases, like Down’s Syndrome, Edwards Syndrome, and Patau Syndrome however, are out of the control of the mother, and can therefore cause a great deal of stress, especially due to the vague and uncertain results of present tests.
These disorders are currently tested via blood sample and with data from an ultrasound. The tests have high rates of false positive results and low rates of successful prediction. The vague results must then be verified by invasive tests such as amniocentesis and chorionic villus sampling (CVS), which add expense, a small risk of miscarriage and significant stress to hundreds of thousands of expecting mothers, who don’t actually need them.
Now a novel diagnostic has been developed that will measure the fetal DNA in the mother’s blood at 10 weeks, when 10% of the DNA in the blood belongs to the fetus. Studies show that the DNA testing dramatically decreased the false positives for Down and Edwards syndromes, while increasing the rate of a correct prediction by 10 and 5 times respectively. All cases of aneuploidy were detected.
Currently, this testing is reserved for patients with risk factors for aneuploidy, but it soon will be available for all patients, regardless of their background risk, thus bringing more certainty to parents all over the world.
Where Are They Now
Cell-free fetal DNA testing is now available to all expectant mothers. Though fairly expensive, cell-free fetal DNA sequencing continues to improve the accuracy of prenatal screening tests for genetic conditions.