How Is Down Syndrome Diagnosed at Birth? Key Signs and Chromosomal Testing
Learn how Down syndrome is identified at birth through physical traits and confirmed with chromosomal karyotype testing.
Video transcript
While some physical traits of Down syndrome can be evident at birth, such as distinct facial features, a definitive diagnosis usually requires a chromosomal test known as a karyotype. This test confirms the presence of an extra chromosome 21.
Questions and answers
Can Down syndrome be detected immediately after birth?
Some physical traits may be noticeable at birth, but a definitive diagnosis requires a chromosomal karyotype test to confirm the presence of an extra chromosome 21.
What is a karyotype test for Down syndrome?
A karyotype test is a chromosomal analysis that identifies the number and structure of chromosomes to confirm if there is an extra chromosome 21, which causes Down syndrome.
What physical features suggest Down syndrome in a newborn?
Distinctive facial features such as a flat facial profile, upward slanting eyes, and a single crease across the palm are common indicators to suggest Down syndrome at birth.
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