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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 / Greenough, 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, M.J.M.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


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Advanced maternal age as a sole indication for genetic amniocentesis; risk-benefit analysis based on a large database reflecting the current common practice

Eran Bornstein1 / Erez Lenchner2 / Alan Donnenfeld3 / Yoni Barnhard4 / David Seubert5 / Michael Y. Divon6

1Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, New York University Medical Center, New York, NY, USA

2New York University, Statistics and Mapping Laboratory, New York, NY, USA

3Genzyme Genetics, Philadelphia, PA, USA

4Department of Obstetrics and Gynecology, Lenox-Hill Hospital, New York, NY, USA

5Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, New York University Medical Center, New York, NY, USA

6Department of Obstetrics and Gynecology, Lenox-Hill Hospital, New York, NY, USA

Corresponding author: Eran Bornstein, MD Department of Obstetrics and Gynecology Maternal Fetal Medicine Division New York University Medical Center 550 First Avenue New York NY 10016 USA Business Tel.: +1-212-263 0223 Home Tel.: +1-718-417 1064

Citation Information: Journal of Perinatal Medicine. Volume 37, Issue 2, Pages 99–102, ISSN (Online) 1619-3997, ISSN (Print) 0300-5577, DOI: 10.1515/JPM.2009.032, November 2008

Publication History

Published Online:
2008-11-10

Abstract

Aims: Recent advances in prenatal screening, including first and second trimester genetic screening as well as targeted sonography, have significantly improved the detection of trisomy 21. Therefore, several investigators have questioned the validity of recommending genetic amniocentesis to all women who are 35 years or older at delivery. Thus, we sought to investigate the risks and benefits associated with performing genetic amniocentesis in women whose sole indication for testing was advanced maternal age (AMA).

Methods: A retrospective review of a Genzyme Genetics amniocentesis database (January 2006–December 2006) was performed. All specimens obtained from women of AMA as the sole indication were eligible for analysis. The amniocentesis-related potential fetal loss was calculated based on the traditional fetal loss rate of 1/200 as well as the recently published loss rate of 1/1600 procedures. Risk-benefit analysis was performed by comparing the number of trisomy 21 fetuses identified within the AMA group to the potential number of amniocentesis-related fetal losses within this group.

Results: A total of 87,241 amniocentesis specimens were processed during the study period. AMA was the sole indication for genetic amniocentesis in 43,303 cases which formed the study group. In 399 (0.92%) of these cases, a trisomy 21 was identified. Assuming an amniocentesis related fetal loss rates of 1/200 or 1/1600; 217 or 27 fetal losses would have been expected, respectively.

Conclusions: Our analysis suggests that the benefit of genetic amniocentesis for the sole indication of AMA far outweighs the potential amniocentesis-related fetal loss rate, regardless of the actual rate one considers.

Keywords: Advanced maternal age; amniocentesis; Down's syndrome; prenatal diagnosis; trisomy 21

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