Cecilia Esteves

New York Presbyterian Hospital, New York, New York, United States

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Publications (2)6.54 Total impact

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    ABSTRACT: What's already known about this topic? Chromothripsis is a recently described phenomenon whereby a single catastrophic event leads to multiple chromosome breaks and subsequent repair through nonhomologous end joining. The result can present karyotypically as a complex rearrangement and occurs both congenitally and in cancer cells. What does this study add? We report, to our knowledge, the first case of congenital chromothripsis uncovered prenatally through a combination of G-banded karyotype analysis and whole-genome sequencing by jumping libraries. The G-banded karyotype initially suggested the involvement of five chromosomes and six breakpoints. Whole-genome sequencing further resolved this event to include nine total breakpoints that disrupt seven independent genes, all in the presence of a normal microarray result. This emphasizes the complementarity that whole-genome sequencing can provide to the initial karyotype analysis as a reflex test when a rearrangement is detected. We also discuss the dilemma of prognosis with this finding.
    No preview · Article · Jul 2014 · Prenatal Diagnosis
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    ABSTRACT: Cytogenetic analysis of spontaneous abortions is frequently complicated by culture failure and maternal cell contamination (MCC). The objective of the study is to demonstrate that multiplex fluorescence in situ hybridization (FISH) can increase the yield and accuracy of karyotypes from spontaneous abortion specimens. A multiplex interphase FISH probe set was used to analyze two sample sets. (1) Uncultured tissues from 153 abortions samples with a normal 46,XX karyotype and (2) a series of 171 samples that either failed to grow or were contaminated. MCC studies were performed on 70 cultures where both karyotype and FISH indicated a normal female karyotype. FISH showed 31% (53/171) of the specimens karyotyped as 46,XX were either male or abnormal; 23% (40/118) of these specimens were found to have an abnormal chromosome complement. In specimens with culture failure, FISH showed an abnormal complement in 44.4% (68/153). MCC studies showed 41.49% (29/70) cultures of maternal origin, 45.7% (32/70) fetal, 11.4% (8/70) a maternal/fetal mixture and 1 diploid mole. Results demonstrate the utility of a simple FISH panel in increasing the detection rate of abnormal karyotypes. They also reveal the high frequency of overgrowth of maternal cells in cultured specimens from villi after embryonic loss.
    Full-text · Article · Aug 2011 · Prenatal Diagnosis

Publication Stats

19 Citations
6.54 Total Impact Points

Top Journals


  • 2014
    • New York Presbyterian Hospital
      New York, New York, United States
  • 2011
    • Columbia University
      New York, New York, United States