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 cho
Second trimester levels of pregnancy associated plasma protein-A in cases of trisomy 18
β Scribed by K. Spencer; J. A. Crossley; K. Green; D. J. Worthington; K. Brownbill; D. A. Aitken
- Publisher
- John Wiley and Sons
- Year
- 1999
- Tongue
- English
- Weight
- 214 KB
- Volume
- 19
- Category
- Article
- ISSN
- 0197-3851
No coin nor oath required. For personal study only.
β¦ Synopsis
In a study of 70 cases of trisomy 18 and 450 matched controls in the second trimester we have measured the maternal serum levels of the analytes alpha feto protein (AFP), free -human chorionic gonadotrophin (hCG) and pregnancy associated plasma protein-A (PAPP-A). We have found the median multiple of the median (MoM) of maternal serum free -hCG to be significantly lower (0.327) than normal, as was the level of AFP (0.600). Levels of PAPP-A were reduced even further (0.108). Of the markers associated with trisomy 18 at this time PAPP-A was the most discriminatory, being lower than the 5 per cent centile of normal in 93 per cent of cases, compared with 57 per cent of cases for free -hCG and 32 per cent of cases for AFP. Combining free -hCG and PAPP-A or all three markers with maternal age would have the ability to detect 74 per cent of cases at a 0.5 per cent false positive rate (or 64 per cent at a 0.1 per cent false positive rate). Unlike in cases of trisomy 21, the low PAPP-A values observed in the first trimester are continued into the second trimester. Whether the good discriminatory power of PAPP-A can be realized in second trimester screening programmes will depend on developing two stage screening algorithms. This approach is unlikely to be better than the excellent detection rates achievable with free -hCG, PAPP-A and nuchal translucency in the first trimester.
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The usefulness of early second-trimester serum determinations of pregnancy-associated plasma protein A (PAPP-A) and pregnancy-specific 1-glycoprotein (SP1) in suspected cases of fetal trisomy 18 was examined in a retrospective, cross-sectional study. Maternal serum PAPP-A and SP1 in 20 cases of feta
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