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Journal of Perinatal Medicine

Official Journal of the World Association of Perinatal Medicine

Editor-in-Chief: Dudenhausen, Joachim W.

Editorial Board Member: / Bancalari, Eduardo / Milner, Anne / Genc, Mehmet R. / Chervenak, Frank A. / Chappelle, Joseph / Bergmann, Renate L. / Bernardes, J.F. / Bevilacqua, G. / Blickstein, Isaac / Cabero Roura, Luis / Carbonell-Estrany, Xavier / Carrera, Jose M. / D`Addario, Vincenzo / D'Alton, MD, Mary E. / Dimitrou, G. / Grunebaum, Amos / Hentschel, Roland / Köpcke, W. / Kawabata, Ichiro / Keirse, Marc J.N.C. / Kurjak M.D., Asim / Lee, Ben H. / Levene, Malcolm / Lockwood, Charles J. / Marsal, Karel / Makatsariya, Alexander / Nishida, Hiroshi / Ogata, Edward / Papp, Zoltán / Pejaver, Ranjan Kumar / Pooh, Ritsuko K. / Romero, Roberto / Saugstad, Ola D. / Schenker, Joseph G. / Sen, Cihat / Seri, Istvan / Vetter, Klaus / Winn, Hung N. / Young, Bruce K. / Zimmermann, Roland

9 Issues per year


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Online
ISSN
1619-3997
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Volume 40, Issue 3 (Apr 2012)

Issues

Chromosomal mosaicisms in prenatal diagnosis: correlation with first trimester screening and clinical outcome

Christel Eckmann-Scholz
  • Department of Gynecology and Obstetrics, University Hospital Schleswig-Holstein, Campus Kiel and Christian-Albrechts-University Kiel, Kiel, Germany
  • Email:
/ Julia Mallek
  • Department of Gynecology and Obstetrics, University Hospital Schleswig-Holstein, Campus Kiel and Christian-Albrechts-University Kiel, Kiel, Germany
/ Constantin S. von Kaisenberg
  • Department of Gynecology and Obstetrics, University Hospital Schleswig-Holstein, Campus Kiel and Christian-Albrechts-University Kiel, Kiel, Germany
  • Department of Obstetrics, Gynecology and Reproductive Medicine, Hannover Medical School, Hannover, Germany
/ Norbert K. Arnold
  • Department of Gynecology and Obstetrics, University Hospital Schleswig-Holstein, Campus Kiel and Christian-Albrechts-University Kiel, Kiel, Germany
/ Walter Jonat
  • Department of Gynecology and Obstetrics, University Hospital Schleswig-Holstein, Campus Kiel and Christian-Albrechts-University Kiel, Kiel, Germany
/ Siebert Reiner
  • Institute of Human Genetics, University Hospital Schleswig-Holstein, Campus Kiel and Christian-Albrechts-University Kiel, Kiel, Germany
/ Almuth Caliebe
  • Institute of Human Genetics, University Hospital Schleswig-Holstein, Campus Kiel and Christian-Albrechts-University Kiel, Kiel, Germany
/ Simone Heidemann
  • Institute of Human Genetics, University Hospital Schleswig-Holstein, Campus Kiel and Christian-Albrechts-University Kiel, Kiel, Germany
Published Online: 2012-01-06 | DOI: https://doi.org/10.1515/jpm.2011.130

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.

Keywords: Amniocentesis; chorionic villi sampling; chromosomal mosaicism; confined placental mosaicism; fetal growth restriction; first-trimester screening; free β-HCG; invasive procedures; PAPP-A

About the article

Corresponding author: Dr. Christel Eckmann-Scholz Department of Gynecology and Obstetrics University Hospital Schleswig-Holstein Christian-Albrechts-University of Kiel Arnold-Heller-Straße 3 D-24105 Kiel Germany Tel.: +49-431 597- 2100 Fax: +49-431 597- 2146


Received: 2011-08-24

Revised: 2011-10-19

Accepted: 2011-10-24

Published Online: 2012-01-06

Published in Print: 2012-04-01


Citation Information: Journal of Perinatal Medicine, ISSN (Online) 1619-3997, ISSN (Print) 0300-5577, DOI: https://doi.org/10.1515/jpm.2011.130. Export Citation

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