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First Trimester
Down Syndrome Screen

Formal name: First Trimester Screen – Pregnancy-associated plasma protein-A (PAPP-A), human chorionic gonadotropin (hCG), as either free beta subunit or total hCG, and a nuchal translucency ultrasound
Related tests: Triple/Quad Screen, total hCG
Common Questions
  1. How does Down syndrome affect a person?
2. What is trisomy 18?


1. How does Down syndrome affect a person? Those with Down syndrome usually have mild to moderate mental retardation and may have congenital heart defects, respiratory and hearing problems, leukemia, and thyroid disorders. Many of the complications of Down syndrome can be treated, and the lifespan of those affected has greatly increased in recent years.



2. What is trisomy 18? Trisomy 18 or Edwards Syndrome is a condition in which there are three copies of chromosome 18. Trisomy 18 is associated with multiple abnormalities and is usually fatal shortly after birth. This chromosomal defect occurs about in about 1 in 3000 live births.






This article was last reviewed on July 5, 2007.
 
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