What is Down syndrome?
Down syndrome is a genetic disorder caused by a duplication chromosome. Patients with Down syndrome have two copies of chromosome 21 so they are born with 47 chromosomes as opposed to the normal 46. Another name for the condition is Trisomy 21.
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What will a baby with Down syndrome face?
Children with Down syndrome generally have physical and mental delays of varying degrees. Physical growth, as well as mental growth, is slower than average. Down syndrome affects the internal organs, such as the brain, heart, and eyes. Health challenges include heart defects, joint problems, hypothyroidism, gastrointestinal problems, and vision issues.
How early in a pregnancy can Down syndrome be diagnosed?
Through the use of ultrasound to test fetal nuchal thickness, blood markers, and cell-free DNA testing, a fetus can be screened for Down syndrome as early as 10 weeks gestation. If the screening tests show a likely chance of carrying the defect, the next step is to undergo CVS or amniocentesis to confirm a diagnosis.
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