Rescue karyotyping

A case series of array-based comparative genomic hybridization evaluation of archival conceptual tissue

Rashmi Kudesia, Marilyn Li, Janice Smith, Ankita Patel, Zev Williams

Research output: Contribution to journalArticle

14 Citations (Scopus)

Abstract

Background: Determination of fetal aneuploidy is central to evaluation of recurrent pregnancy loss (RPL). However, obtaining this information at the time of a miscarriage is not always possible or may not have been ordered. Here we report on " rescue karyotyping" , wherein DNA extracted from archived paraffin-embedded pregnancy loss tissue from a prior dilation and curettage (D&C) is evaluated by array-based comparative genomic hybridization (aCGH).Methods: A retrospective case series was conducted at an academic medical center. Patients included had unexplained RPL and a prior pregnancy loss for which karyotype information would be clinically informative but was unavailable. After extracting DNA from slides of archived tissue, aCGH with a reduced stringency approach was performed, allowing for analysis of partially degraded DNA. Statistics were computed using STATA v12.1 (College Station, TX).Results: Rescue karyotyping was attempted on 20 specimens from 17 women. DNA was successfully extracted in 16 samples (80.0%), enabling analysis at either high or low resolution. The longest interval from tissue collection to DNA extraction was 4.2 years. There was no significant difference in specimen sufficiency for analysis in the collection-to-extraction interval (p = 0.14) or gestational age at pregnancy loss (p = 0.32). Eight specimens showed copy number variants: 3 trisomies, 2 partial chromosomal deletions, 1 mosaic abnormality and 2 unclassified variants.Conclusions: Rescue karyotyping using aCGH on DNA extracted from paraffin-embedded tissue provides the opportunity to obtain critical fetal cytogenetic information from a prior loss, even if it occurred years earlier. Given the ubiquitous archiving of paraffin embedded tissue obtained during a D&C and the ease of obtaining results despite long loss-to-testing intervals or early gestational age at time of fetal demise, this may provide a useful technique in the evaluation of couples with recurrent pregnancy loss.

Original languageEnglish (US)
Article number19
JournalReproductive Biology and Endocrinology
Volume12
Issue number1
DOIs
StatePublished - Mar 3 2014

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Karyotyping
Comparative Genomic Hybridization
Pregnancy
DNA
Paraffin
Gestational Age
Dilatation and Curettage
Fetal Death
Curettage
Trisomy
Aneuploidy
Spontaneous Abortion
Karyotype
Cytogenetics
Dilatation

Keywords

  • aCGH
  • Miscarriage
  • Recurrent pregnancy loss

ASJC Scopus subject areas

  • Developmental Biology
  • Endocrinology
  • Reproductive Medicine

Cite this

Rescue karyotyping : A case series of array-based comparative genomic hybridization evaluation of archival conceptual tissue. / Kudesia, Rashmi; Li, Marilyn; Smith, Janice; Patel, Ankita; Williams, Zev.

In: Reproductive Biology and Endocrinology, Vol. 12, No. 1, 19, 03.03.2014.

Research output: Contribution to journalArticle

Kudesia, Rashmi ; Li, Marilyn ; Smith, Janice ; Patel, Ankita ; Williams, Zev. / Rescue karyotyping : A case series of array-based comparative genomic hybridization evaluation of archival conceptual tissue. In: Reproductive Biology and Endocrinology. 2014 ; Vol. 12, No. 1.
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abstract = "Background: Determination of fetal aneuploidy is central to evaluation of recurrent pregnancy loss (RPL). However, obtaining this information at the time of a miscarriage is not always possible or may not have been ordered. Here we report on {"} rescue karyotyping{"} , wherein DNA extracted from archived paraffin-embedded pregnancy loss tissue from a prior dilation and curettage (D&C) is evaluated by array-based comparative genomic hybridization (aCGH).Methods: A retrospective case series was conducted at an academic medical center. Patients included had unexplained RPL and a prior pregnancy loss for which karyotype information would be clinically informative but was unavailable. After extracting DNA from slides of archived tissue, aCGH with a reduced stringency approach was performed, allowing for analysis of partially degraded DNA. Statistics were computed using STATA v12.1 (College Station, TX).Results: Rescue karyotyping was attempted on 20 specimens from 17 women. DNA was successfully extracted in 16 samples (80.0{\%}), enabling analysis at either high or low resolution. The longest interval from tissue collection to DNA extraction was 4.2 years. There was no significant difference in specimen sufficiency for analysis in the collection-to-extraction interval (p = 0.14) or gestational age at pregnancy loss (p = 0.32). Eight specimens showed copy number variants: 3 trisomies, 2 partial chromosomal deletions, 1 mosaic abnormality and 2 unclassified variants.Conclusions: Rescue karyotyping using aCGH on DNA extracted from paraffin-embedded tissue provides the opportunity to obtain critical fetal cytogenetic information from a prior loss, even if it occurred years earlier. Given the ubiquitous archiving of paraffin embedded tissue obtained during a D&C and the ease of obtaining results despite long loss-to-testing intervals or early gestational age at time of fetal demise, this may provide a useful technique in the evaluation of couples with recurrent pregnancy loss.",
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