Rescue karyotyping: a case series of array-based comparative genomic hybridization evaluation of archival conceptual tissue

Reproductive Biology and Endocrinology

Zev Williams²  Ankita Patel¹  Janice Smith¹  Marilyn Li¹  Rashmi Kudesia² 

[1] Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Mail Stop NAB 2015, Houston, TX 77030, USA;Program for Early and Recurrent Pregnancy Loss (PEARL), Department of Obstetrics, Gynecology & Women’s Health, Albert Einstein College of Medicine, 1301 Morris Park Avenue, Price Building, Room 474, Bronx, NY 10461, USA

关键词: aCGH;    Miscarriage;    Recurrent pregnancy loss;   

Others  :  804580
DOI  :  10.1186/1477-7827-12-19

 received in 2014-01-10, accepted in 2014-02-27,  发布年份 2014

【 摘 要 】

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.

【 授权许可】

   
2014 Kudesia et al.; licensee BioMed Central Ltd.

【 图 表 】

Figure 1.

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