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Journal of Perinatal Medicine

Official Journal of the World Association of Perinatal Medicine

Editor-in-Chief: Dudenhausen, MD, FRCOG, Joachim W.

Ed. by Bancalari, Eduardo / Chappelle, Joseph / Chervenak, Frank A. / D'Addario , Vincenzo / Genc, Mehmet R. / Greenough, Anne / Grunebaum, Amos / Konje, Justin C. / Kurjak M.D., Asim / Romero, Roberto / Zalud, MD PhD, Ivica

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Volume 33, Issue 5


The best marker combination using the integrated screening test approach for detecting various chromosomal aneuploidies

Ron Maymon / Reuven Sharony / Julia Grinshpun-Cohen / Deganit Itzhaky / Arie Herman / Orit Reish
  • The Genetics Institute, Assaf Harofe Medical Center, Israel, both medical centers affiliated to the Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
  • Other articles by this author:
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Published Online: 2005-09-13 | DOI: https://doi.org/10.1515/JPM.2005.071


Aims: To evaluate the cross-trimester multiple marker correlation and the minimum marker combination needed for detecting various chromosomal aneuploidies.

Materials and methods: Parturient women with singleton pregnancies who underwent non-interventional sequential screening test and followed prospectively were recruited. They all underwent first trimester combined nuchal translucency (NT), pregnancy-associated plasma protein-A (PAPP-A), and free β-human chorionic gonadotrophin (f-βhCG), followed by second trimester measurement of unconjugated estriol (uE3), human chorionic gonadotrophin (hCG) and alpha-fetoprotein (AFP). Pearson correlation was applied to compute any cross-trimester marker correlation and logistic regression analysis was used to determine the minimum marker combination for detecting various categories of chromosomal aneuploidies.

Results: The current study included 552 normal and 43 chromosomal-affected pregnancies (24 Down's syndrome [DS], 7 Turner's syndrome, 8 Edward's syndrome, 4 Klinefelter syndrome and 5 triploidy) for which the results of both the screening tests and the pregnancy outcome were available. In the normal cases, a significant correlation was found between f-βhCG and hCG (r=0.52), as well as between PAPP-A and uE3 (r=0.174). In DS pregnancies, the NT correlated with both hCG (r=0.45) and uE3 (r=−0.39). In Turner's syndrome, uE3 correlated both with PAPP-A (r=0.97) and f-βhCG (r=0.97). No other significant correlations were found. Furthermore, with the exception of f-βhCG and hCG in the unaffected cases, all other markers correlation appeared very weak. For detecting all the above categories of aneuploidies, the combination of NT, PAPP-A and uE3 and the maternal age background risk were found adequate, with a 74% detection rate (DR) for a 5% false positive rate (FPR). For DS only, the combination of maternal age-related background risk and the combination of NT, PAPP-A, hCG and AFP yielded a 79% DR for a 5% FPR.

Conclusions: The current study agrees with a previous report that, overall, there is no strong correlation between first and second trimester markers. The extension of the integrated test for detecting various categories of common chromosomal aneuploidies using NT, PAPP-A and uE3 deserves further evaluation.

Keywords: Chromosomal abnormalities; Down's syndrome screening; integrated test; marker combination

About the article

Corresponding author: Ron Maymon, MD Department of Obstetrics and Gynecology Assaf Harofe Medical Center Zerifin Israel Tel.: +972-3-6407445 Fax: +972-3-6409043

Received: February 11, 2005

Revised: May 17, 2005

Accepted: May 24, 2005

Published Online: 2005-09-13

Published in Print: 2005-10-01

Citation Information: Journal of Perinatal Medicine, Volume 33, Issue 5, Pages 392–398, ISSN (Online) 1619-3997, ISSN (Print) 0300-5577, DOI: https://doi.org/10.1515/JPM.2005.071.

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