Risk of recurrence of fetal chromosomal aberrations: Analysis of trisomy 21, trisomy 18, trisomy 13, and 45,X in 1076 Japanese mothers

Shigeki Uehara, Nobuo Yaegashi, Tohru Maeda, Nobuhiko Hoshi, Seiichiro Fujimoto, Keiya Fujimori, Kaoru Yanagida, Michiko Yamanaka, Fumiki Hirahara, Akira Yajima

Research output: Contribution to journalArticlepeer-review

23 Citations (Scopus)

Abstract

Objective: To evaluate the risk of recurrence of fetal chromosomal aberrations in women who had offspring with numeric chromosomal abnormalities. Subjects and Methods: This collaborative study consisted of 1076 Japanese women with a history of offspring with trisomy-21, -18, -13, or 45,X. Second-trimester amniocenteses were performed, resulting in 1248 fetal karyotypes that were analyzed with reference to prior offspring karyotypes and maternal age. Results: Of the 842 women with trisomy-21 offspring, 10 conceived another such fetus. In 2 women with 3 or more such offspring, parental mosaicism of trisomy-21 was suspected. The incidence of recurrence of trisomy-21 increased with age, and significantly exceeded the incidence of trisomy-21 fetuses in the general population. None of the 170 women with trisomy-18 offspring, and none of the 46 women with trisomy-13 offspring, had another such fetus. Of the 18 women with 45,X offspring, 1 with mos 45,X/46,XX had another such fetus. Conclusions: The risk of recurrence of trisomy-21 is affected by maternal age and parental germline mosaicism. The risk of recurrence of trisomy-18 or -13 appears to be much lower than that of trisomy-21. Women who give birth to more than 1 offspring with 45,X should be examined for mos 45,X/46,XX.

Original languageEnglish
Pages (from-to)373-379
Number of pages7
JournalJournal of Obstetrics and Gynaecology Research
Volume25
Issue number6
DOIs
Publication statusPublished - 1999 Dec

Keywords

  • Fetal karyotype
  • Genetic counseling
  • Germline mosaicism
  • Maternal age
  • Numeric chromosomal aberration

ASJC Scopus subject areas

  • Obstetrics and Gynaecology

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