Recent advances in maternal serum screening for Down syndrome.

Med Health R I

Division of Prenatal and Special Testing, Department of Pathology and Laboratory Medicine, Women & Infants' Hospital, Providence, RI 02903, USA.

Published: December 2002

AI Article Synopsis

  • The addition of serum markers over the past 15 years has improved the detection of pregnancies affected by Down syndrome.
  • In the 1990s, screening methods were enhanced by including new biochemical markers and combining first trimester blood tests with ultrasound.
  • Recent advancements in prenatal screening could enable nearly all pregnant women to avoid risky procedures like amniocentesis while achieving detection rates close to 90%.

Article Abstract

For the past 15 years, addition of serum markers to screening for Down syndrome has enhanced the ability to identify affected pregnancies. During the 1990s, incremental improvements in screening have been tested and implemented, first with the addition of a fourth biochemical marker, inhibin A, to second trimester screening protocols, and second with the development of combined first trimester serum and ultrasound screening. With the new century, we are on the verge of a major breakthrough in the performance of prenatal screening for Down syndrome, with the opportunity to spare almost all pregnant women the risk of amniocentesis and CVS, yet attain levels of detection approaching 90%.

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