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Low MSAFP levels and Williams syndrome

✍ Scribed by Chodirker, Bernard N.; Greenberg, Cheryl R.; Giddins, Niels G.; Dawson, Angelika J.; Evans, Jane A.; Chudley, Albert E.

Publisher: John Wiley and Sons
Year: 1997
Tongue: English
Weight: 17 KB
Volume: 72
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19971112)72:4<448::aid-ajmg14>3.0.co;2-r

No coin nor oath required. For personal study only.

✦ Synopsis

Williams syndrome (WS) is associated with a deletion of the elastin gene in over 90% of cases. We report maternal serum alpha fetoprotein (MSAFP) levels in 5 women whose fetuses were later diagnosed as having WS. MSAFP levels ranged from 0.5-0.8 multiples of the median (MOM). Although further confirmation is necessary, it appears that MSAFP levels are lower than the median in WS. This apparent association has implications for counselling women following maternal serum screening.

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