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WASHINGTON -- First-trimester nuchal translucency screening shows great promise for the early detection of Down syndrome and other aneuploidies, but its detection rate is highly variable and remains dependent on the skill of the individual sonographer.
Several presenters at the Third World Congress on Controversies in Obstetrics, Gynecology, and Infertility agreed that early nuchal translucency (NT) screening should be offered only in centers where high quality is available. In addition, for best results, NT screening should be combined with maternal serum screening followed by invasive testing, depending on the patient's decision.
Results of British studies from 1996 to 1999 put the Down syndrome detection rate of NT screening in the first trimester at 74%-84%, with a screen positive rate of 5%-8%, according to Dr. Fergal Malone of Columbia University, New York.
The 1998 National Institute of Child and Maternal Health BUN study, which combined pregnancy-associated plasma protein (PAPP-A), free [beta]-HCG, nuchal fold thickness, and maternal age, obtained similar results for 10- to 14-week pregnancies.
The detection rate for Down syndrome was 72%; the screen positive rate was 5%.
A recent comparative analysis of NT alone, compared with serum screens and with a combination of serum screening and NT screening suggested that NT screening alone is the least efficient strategy
The study found a detection rate of 85% for all strategies, but a screen positive rate that varied widely, with NT screening alone having the highest false-positive rate (J. Ultrasound Med. 21[4]:481-87, 2002).
Source: HighBeam Research, Sonographer's skill key to efficacy of nuchal translucency test....