Document Detail

Chromosomal mosaicisms in prenatal diagnosis: correlation with first trimester screening and clinical outcome.
MedLine Citation:
PMID:  22505498     Owner:  NLM     Status:  In-Data-Review    
Abstract Objective: To investigate the outcome of pregnancy after detection of chromosomal mosaicism and to determine the correlation between human chorionic gonadotropin (free β-HCG) and pregnancy-associated plasma protein-A (PAPP-A) levels from first-trimester-screening with pregnancy outcome. Methods: In a single-center, retrospective survey of the results of prenatal diagnostics performed between January 2000 and March 2011, we identified a total of 40 pregnancies with chromosomal mosaicism. Clinical characteristics and results of first-trimester screening, as well as the outcome of these cases, are described. Results: Out of 40 cases, 21 were defined as confined placental mosaicism, 10 classified as true mosaicism and nine were not classifiable cases. Nuchal translucency (NT) was ≥2.5 mm in 8/30 cases with respective measurements. PAPP-A levels were ≤0.4 MoM in 9/26 cases, with respective measurements, two of them being newborns with growth restriction. Remarkably, in pregnancies of all four children born with severe growth retardation, <3rd percentile PAPP-A levels were below 0.52 MoM. Conclusions: Our observations show mosaic pregnancy outcomes to be very heterogeneous. Nevertheless, a combination of low PAPP-A and interpretation of chromosomal mosaicism might identify pregnancies at particular risk for fetal growth restriction.
Christel Eckmann-Scholz; Julia Mallek; Constantin S von Kaisenberg; Norbert K Arnold; Walter Jonat; Siebert Reiner; Almuth Caliebe; Simone Heidemann
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Publication Detail:
Type:  Journal Article     Date:  2012-01-06
Journal Detail:
Title:  Journal of perinatal medicine     Volume:  40     ISSN:  1619-3997     ISO Abbreviation:  J Perinat Med     Publication Date:  2012  
Date Detail:
Created Date:  2012-04-16     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0361031     Medline TA:  J Perinat Med     Country:  Germany    
Other Details:
Languages:  eng     Pagination:  215-23     Citation Subset:  IM    
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