Age-specific incidences of chromosome abnormalities at the second trimester amniocentesis for japanese mothers aged 35 and older: collaborative study of 5484 cases

ABSTRACT The aim of this study was to calculate the expected incidences of chromosome abnormalities found at amniocentesis in Japanese women aged 35 and older. From four clinics in Japan, we

gathered genetic amniocentesis data on 5484 pregnant women at risk only due to their advanced age, 35 years and older. We analyzed the data using the logistic regression model. Of the 5484

fetuses, 117 (2.1%) were diagnosed with a chromosome abnormality. The abnormal karyotypes included 42 cases of trisomy 21; 13 of trisomy 18; 7 of trisomy 13; 10 of 47,XXY; 4 of 47,XXX; 1 of

47,XYY; 27 with various structural aberrations; and 13 with various types of mosaicism. The incidences of trisomy 21, lethal autosomal aneuploidies (trisomy 18 and trisomy 13), and

sex-chromosome abnormalities (XXY, XXX, XYY) increased with maternal age. Parameters of the regression equations with their standard errors were calculated and the expected incidences of

chromosome abnormalities at each maternal age were derived. The expected incidences of chromosome abnormalities obtained in this study are the first data published for Japan and will be

useful for the counseling of pregnant women. The incidence of trisomy 21 is not different from the rates published previously for Western countries. The incidences of chromosome

abnormalities are not affected by race or by geographic factors. SIMILAR CONTENT BEING VIEWED BY OTHERS FREQUENCY AND CLINICAL SIGNIFICANCE OF CHROMOSOMAL INVERSIONS PRENATALLY DIAGNOSED BY

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PDF AUTHOR INFORMATION AUTHORS AND AFFILIATIONS * Department of Obstetrics and Gynecology, Tohoku University School of Medicine, 1-1 Seiryo-machi, Aoba-ku, Sendai 980-8574, Japan Tel.

+81-22-717-7254; Fax +81-22-717-7258 e-mail: [email protected], Japan Nobuo Yaegashi, Masato Senoo, S. Uehara, Hisako Suzuki & Akira Yajima * Department of Obstetrics and

Gynecology, Kitazato University School of Medicine, Sagamihara, Japan, Japan Tohru Maeda * Department of Obstetrics and Gynecology, Fukushima Prefectural College of Medicine, Fukushima,

Japan, Japan Keiya Fujimori * Department of Obstetrics and Gynecology, Yokohama City University of Medicine, Yokohama, Japan, Japan Fumiki Hirahara Authors * Nobuo Yaegashi View author

publications You can also search for this author inPubMed Google Scholar * Masato Senoo View author publications You can also search for this author inPubMed Google Scholar * S. Uehara View

author publications You can also search for this author inPubMed Google Scholar * Hisako Suzuki View author publications You can also search for this author inPubMed Google Scholar * Tohru

Maeda View author publications You can also search for this author inPubMed Google Scholar * Keiya Fujimori View author publications You can also search for this author inPubMed Google

Scholar * Fumiki Hirahara View author publications You can also search for this author inPubMed Google Scholar * Akira Yajima View author publications You can also search for this author

inPubMed Google Scholar ADDITIONAL INFORMATION Received: July 23, 1997 / Accepted: December 1, 1997 RIGHTS AND PERMISSIONS Reprints and permissions ABOUT THIS ARTICLE CITE THIS ARTICLE

Yaegashi, N., Senoo, M., Uehara, S. _et al._ Age-specific incidences of chromosome abnormalities at the second trimester amniocentesis for Japanese mothers aged 35 and older: collaborative

study of 5484 cases. _J Hum Genet_ 43, 85–90 (1998). https://doi.org/10.1007/s100380050046 Download citation * Published: 01 June 1998 * Issue Date: June 1998 * DOI:

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currently available for this article. Copy to clipboard Provided by the Springer Nature SharedIt content-sharing initiative * Key words Advanced maternal age * Amniocentesis * Prenatal

diagnosis * Chromosome * Down syndrome