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How Doctors Detect Whether a Baby Will Be Born With Down Syndrome
In Some Cases Down Syndrome Is Diagnosed After Birth
A lot of expectant parents make the decision to skip Down syndrome screening and testing altogether.
“Many moms over 35 [the age after which the risk of having a child with Down syndrome is elevated] get prenatal testing to assess whether the fetus has the condition,” Pipan notes. “But younger moms often don’t.”
She says these parents have usually decided that it isn't necessary or useful for them to know whether or not their child has Down syndrome ahead of delivering the baby.
Though in some cases knowing a baby will be born with Down syndrome can lead to additional prenatal testing and monitoring to help ensure a safe delivery, as many Down syndrome pregnancies are considered high risk.
If a developing fetus has Down syndrome and the condition is not diagnosed during pregnancy, it’s diagnosed at the time the baby is born. This diagnosis uses a combination of physical exams and a blood test.
During the physical exam, a doctor or nurse will check the baby for alack of typical muscle tone, a single deep crease across the palm of the hand, a slightly flattened facial profile, and an upward slant to the eyes — all of which are indicative of Down syndrome. If these physical features are present, a blood test can determine if the baby has an extra full or partial chromosome 21. If the baby does have the extra chromosome, a doctor will make a Down syndrome diagnosis.
What a diagnosis of Down syndrome cannot offer expectant parents is firm predictions about their child’s future disabilities.
Learning difficulties, physical disabilities, and other challenges often emerge as a child ages, Heller explains. And there’s no way to know from a diagnostic test what those future disabilities will be. In some cases, challenges or health conditions may not surface until the child reaches adulthood.
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