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Lookup NU author(s): Dr Maggie Ireland, Professor Sir John BurnORCiD
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Maternal serum samples were collected from 19 pregnancies which resulted in the birth of a child with the classical Cornelia de Lange syndrome phenotype ascertained by careful clinical review. Using specific immunoassays, the serum levels of pregnancy associated plasma protein-A, free-beta human chorionic gonadotrophin and inhibin A were investigated. Pregnancy associated plasma protein-A was detectable in all cases but the levels were significantly reduced in second-trimester maternal serum from 18 affected pregnancies. Expressed as multiples of the median (MOM), the results ranged from 0.03 MOM to 0.71 MOM with an overall median value of 0.21 MOM (Mann-Whitney p < 0.001). From these data it is possible to estimate a probability that any given level of this serum marker is associated with an affected pregnancy. One further sample taken in the first trimester from an affected pregnancy at 11 weeks' gestation had a normal pregnancy associated plasma protein-A level (1.22 MOM). Less markedly reduced levels were found for free beta human chorionic gonadotrophin and inhibin A. We conclude that second-trimester maternal serum pregnancy associated plasma protein-A measurements may be of value as an adjunct to ultrasonography in the prenatal diagnosis of Cornelia de Lange syndrome. A table of likelihood ratios is presented.
Author(s): Aitken DA, Ireland M, Berry E, Crossley JA, Macri JN, Burn J, Connor JM
Publication type: Article
Publication status: Published
Journal: Prenatal Diagnosis
Year: 1999
Volume: 19
Issue: 8
Pages: 706-710
Print publication date: 01/01/1999
ISSN (print): 0197-3851
ISSN (electronic): 1097-0223
Publisher: John Wiley & Sons Ltd.
URL: http://dx.doi.org/10.1002/(SICI)1097-0223(199908)19:8<706::AID-PD613>3.0.CO;2-W
DOI: 10.1002/(SICI)1097-0223(199908)19:8<706::AID-PD613>3.0.CO;2-W
PubMed id: 10451512
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