Inherited unbalanced structural chromosome abnormalities at prenatal chromosome analysis are rarely ascertained through recurrent miscarriage

M. T. M. Franssen*, J. C. Korevaar, W. M. Tjoa, N. J. Leschot, P. M. M. Bossuyt, A. C. Knegt, R. F. Suykerbuyk, R. Hochstenbach, F. van der Veen, M. Goddijn

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

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Abstract

Objective To determine the mode of ascertainment of inherited unbalanced structural chromosome abnormalities detected at prenatal chromosome analysis.

Methods From the databases of three centres for clinical genetics in the Netherlands, all cases of inherited unbalanced structural chromosome abnormalities detected at prenatal chromosome analysis in the period 1992-2000 were selected. The mode of ascertainment was identified by examining the reason for prenatal chromosome analysis and the reason for parental chromosome analysis of the first structural chromosome abnormality detected within the family.

Results Totally 56 cases of inherited unbalanced structural chromosome abnormalities were detected at prenatal chromosome analysis. Only one case was ascertained through two previous miscarriages (2%). The main modes of ascertainment were a previous child with an unbalanced karyotype (48%), congenital abnormalities at ultrasound examination (20%), and advanced maternal age (9%). The remaining cases had a different mode of ascertainment.

Conclusion Inherited unbalanced structural chromosome abnormalities detected at prenatal chromosome analysis are rarely ascertained through two or more miscarriages. Copyright (c) 2008 John Wiley & Sons, Ltd.

Original languageEnglish
Pages (from-to)408-411
Number of pages4
JournalPrenatal Diagnosis
Volume28
Issue number5
DOIs
Publication statusPublished - May-2008

Keywords

  • recurrent miscarriage
  • karyotype
  • translocation
  • prenatal diagnosis
  • structural chromosome abnormality
  • RECIPROCAL TRANSLOCATIONS
  • CYTOGENETIC ABNORMALITIES
  • CARRIERS
  • COUPLES
  • REARRANGEMENTS
  • RISK
  • PREGNANCY
  • DIAGNOSIS
  • ABORTION

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