title: Second-trimester pregnancy associated plasma protein-A levels are reduced in Cornelia de Lange syndrome pregnancies.
abstract: 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.
authors.affiliation: Institute of Medical Genetics, Yorkhill, Glasgow G3 8SJ, U.K. daitken@udcf.gla.ac.uk
authors.forename: D A
authors.initials: DA
authors.lastname: Aitken
authors.forename: M
authors.initials: M
authors.lastname: Ireland
authors.forename: E
authors.initials: E
authors.lastname: Berry
authors.forename: J A
authors.initials: JA
authors.lastname: Crossley
authors.forename: J N
authors.initials: JN
authors.lastname: Macri
authors.forename: J
authors.initials: J
authors.lastname: Burn
authors.forename: J M
authors.initials: JM
authors.lastname: Connor
mesh_terms: D018997:Chorionic Gonadotropin, beta Subunit, Human / Q000097:blood; D003635:De Lange Syndrome / Q000097:blood / Q000175:diagnosis*; D005260:Female; D006801:Humans; D007265:Inhibins / Q000097:blood; D011237:Predictive Value of Tests; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D011266:Pregnancy-Associated Plasma Protein-A / Q000032:analysis / Q000172:deficiency*; D011296:Prenatal Diagnosis; D006113:United Kingdom
chemical_list: D018997:Chorionic Gonadotropin, beta Subunit, Human; D007265:Inhibins; D011266:Pregnancy-Associated Plasma Protein-A