The variability and possible consequences of Down syndrome are well understood, and most women have heard of it. Given the lack of solid data, the American College of Obstetricians and Gynecologists and the Society for Maternal Fetal Medicine recently recommended against routine use of NIPT for microdeletions in otherwise normal pregnancies.Įven when the tests are correct, it’s not always clear what a positive result means. It wasn’t until after she gave birth last May that she found out her baby girl’s chromosomes were normal. But because amnio has a very small risk of miscarriage, Acosta decided against taking the test. “I worried constantly that any pain or cramp was because I was going to lose her.”Īs with traditional prenatal screens, medical guidelines advise that a positive NIPT result be confirmed with a definitive test like amniocentesis, which analyzes cells from the womb. “I cried more than I have ever cried in my life,” she recalls. She was now terrified she’d miscarry, a frequent outcome in Turner syndrome pregnancies. She hadn’t even realized that she was being screened for Turner, she says. She also discovered the fetus tested positive for Turner syndrome, which can cause mild to moderate intellectual disability and other medical problems.Īcosta was shocked.
#DIFFERENCE IN COST SEQUENTIAL TESTING NT PLUS#
A few weeks after sending in her Sequenom’s MaterniT21 Plus test, Acosta’s results came back.
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