| Chromosomal mosaicisms in prenatal diagnosis: correlation with first trimester screening and clinical outcome. | |
| | |
MedLine Citation:
|
PMID: 22505498 Owner: NLM Status: In-Data-Review |
Abstract/OtherAbstract:
|
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. |
| | |
Authors:
|
Christel Eckmann-Scholz; Julia Mallek; Constantin S von Kaisenberg; Norbert K Arnold; Walter Jonat; Siebert Reiner; Almuth Caliebe; Simone Heidemann |
Related Documents
:
|
9849008 - Midtrimester maternal serum free beta-human chorionic gonadotropin levels: normal refer... 1379268 - Improved sensitivity and specificity of a single measurement of serum progesterone over... 17763188 - Human chorionic gonadatropin (hcg) during third trimester pregnancy. 17141398 - Complex congenital malformations and the impact of the plasminogen activator system and... 7723678 - Chronic maternal hypoxia retards fetal growth and increases glucose utilization of sele... 21451568 - The relationship between circulating endothelin-1, soluble fms-like tyrosine kinase-1 a... |
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 |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
|
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Differentiation of enamel lesion activity by vertical reflection intensity - a methodical descriptio...
Next Document: Perinatal impact of the use of metformin and glyburide for the treatment of gestational diabetes mel...