Down syndrome: Testing for a newborn (birth to 1 month of age) Down syndrome can cause a variety of health problems
related to physical and mental functions. These problems vary in number and
severity for each individual. The American Academy of Pediatrics recommends the
following tests for newborns (birth to 1 month of age):1 - Karyotype testing, if not already done,
to confirm a diagnosis of Down syndrome.
- Hearing tests, which may
be done at birth or by 3 months of age.
- A
complete blood count (CBC). This test is given to
check for signs of
leukemia. Although leukemia at birth is rare, it is
slightly more common in babies with Down syndrome.
- A blood test to
check for thyroid problems (usually
hypothyroidism). These problems are rare at birth but
may develop later in life.
- A complete heart evaluation by a
children's heart specialist (pediatric cardiologist) using
echocardiography. About half of babies with Down
syndrome have heart defects.2
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