The next step in evaluation: Infant chromosomal evaluation to confirm diagnosis, evaluation for other features of the syndrome, counseling, and family support.
Definitions:
Advanced maternal age: The incidence of Down Syndrome increases each year beyond the age of 35. At 35 years, the incidence is 1 in 378 live born infants, increasing to 1 in 106 by age 40 and to 1 in 11 by age 49.
Brachydactyly: Excessive shortening of hand and foot tubular bones resulting in a boxlike appearance.
Clinodactyly: Incurving of one of the digits. In Down Syndrome the fifth digit curves toward the fourth digit due to midphalanx dysplasia
Triple screen: Measurements of alpha-fetaproten (AFP), hCG, and estriol levels, usually performed at 15 to 20 weeks' gestation. These tests screen for a variety of genetic problems. 60% of Down Syndrome babies and 80-90% of babies with neural tube defects will be identified by this testing.
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