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Pregnancy-associated plasma protein A: A possible marker in the classification and prenatal diagnosis of Cornelia de Lange syndrome |
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| Authors: | J. G. Westergaard J. Chemnitz B. Teisner H. K. Poulsen L. Ipsen Bente Beck J. G. Grudzinskas |
| Affiliation: | 1. Winslows Institute of Human Anatomy, Odense University, Odense, Denmark;2. Institute of Medical Microbiology, Odense University, Odense, Denmark;3. Department of Obstetrics and Gynaecology, Odense University Hospital, Odense, Denmark;4. Section of Clinical Genetics, Department of Pediatrics, Rigshospitalet, Copenhagen, Denmark;5. Department of Obstetrics, Gynaecology and Reproductive Physiology, The London Hospital Medical College and St. Bartholomew's Hospital Medical College, U.K. |
| Abstract: | The concentration of human placental lactogen (hPL), pregnancy specific beta-1 glycoprotein (SP-1) and pregnancy-associated plasma protein A (PAPP-A) were analysed in consecutive serum samples from a patient who gave birth to a child with Cornelia de Lange syndrome. HPL and SP-1 were present in normal concentrations from week 20 to week 35 of gestation whereas PAPP-A could not be detected in any of the samples examined. Immunohisto-chemical examination of two placentae from Cornelia de Lange syndrome revealed normal localization of hPL and SP-1 but the absence of PAPP-A from the syncytiotrophoblast. The significance of association between Cornelia de Lange syndrome and compromised synthesis of PAPP-A is discussed. |
| Keywords: | Cornelia de Lange syndrome Placental proteins Pregnancy-associated plasma protein A |