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Specific ultrasound findings associated with fetal chromosome abnormalities

  1. Shigeki Shimada1,
  2. Hideto Yamada1,*,
  3. Nobuhiko Hoshi4,
  4. Gen Kobashi5,
  5. Kazuhiko Okuyama2,
  6. Kaoru Hanatani6,
  7. Seiichiro Fujimoto3

Article first published online: 19 MAY 2009

DOI: 10.1111/j.1741-4520.2009.00224.x

Issue

Congenital Anomalies

Congenital Anomalies

Volume 49, Issue 2, pages 61–65, June 2009

Additional Information

How to Cite

Shimada, S., Yamada, H., Hoshi, N., Kobashi, G., Okuyama, K., Hanatani, K. and Fujimoto, S. (2009), Specific ultrasound findings associated with fetal chromosome abnormalities. Congenital Anomalies, 49: 61–65. doi: 10.1111/j.1741-4520.2009.00224.x

Author Information

  1. 1

    Department of Obstetrics and Gynecology, Hokkaido University Graduate School of Medicine,

  2. 2

    Department of Obstetrics and Gynecology, Sapporo City General Hospital,

  3. 3

    JR Tower Clinic, Sapporo,

  4. 4

    Department of Bioresource and Agrobiosciences, Kobe University Graduate School of Science and Technology, Kobe,

  5. 5

    Molecular Biostatistics Research Team, Research Center for Charged Particle Therapy, National Institute of Radiological Science, Chiba, and

  6. 6

    Department of Obstetrics and Gynecology, Tomakomai City Hospital, Tomakomai, Japan

*Hideto Yamada, MD, PhD, Department of Obstetrics and Gynecology, Hokkaido University Graduate School of Medicine, N15W7, Kita-Ku, Sapporo 060-8638, Japan. Email: yhideto@med.hokudai.ac.jp

Publication History

  1. Issue published online: 19 MAY 2009
  2. Article first published online: 19 MAY 2009
  3. Received January 29, 2009; revised and accepted February 10, 2009

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Keywords:

  • amniocentesis;
  • amniotic fluid volume;
  • chromosome abnormality;
  • fetal abnormality;
  • ultrasound

ABSTRACT

Cytogenetic amniocentesis (CA) has been performed as a reliable prenatal diagnostic method for decades. The aims of the present study were to reveal the frequency of fetal chromosome abnormalities according to medical indications of CA, and to assess the risks of specific abnormal ultrasound findings. Data on chromosome karyotypes of fetuses from 5043 Japanese mothers were collected. Group I comprised 4626 fetuses whose mothers underwent CA due to a variety of parental reasons. Group II comprised 417 fetuses whose mothers underwent CA due to fetal abnormality, abnormality of amniotic fluid volume and fetal growth restriction. The frequency of chromosome abnormalities in Group II (17.7%) was significantly higher than in Group I (1.8%). The frequencies of chromosome abnormalities in Group II singleton fetuses with fetal abnormality, polyhydramnios and fetal growth restriction were 21.5, 22.9 and 19.6%, respectively. By multivariate analyses, we found that cystic hygroma (odds ratio 5.6, 95% CI 2.7–11.6), abnormal extremity (5.0, 1.7–14.4) and cardiovascular abnormality (3.3, 1.1–10.1) were significant variants associated with fetal chromosomal abnormalities. Information revealed in the present study constitutes a beneficial reference for genetic counseling.

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