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Clinical Trial
. 2009 Dec;29(13):1213-7.
doi: 10.1002/pd.2367.

Use of array comparative genomic hybridization for prenatal diagnosis of fetuses with sonographic anomalies and normal metaphase karyotype

Linda Kleeman  1 , Diana W Bianchi, Lisa G Shaffer, Emily Rorem, Janet Cowan, Sabrina D Craigo, Hocine Tighiouart, Louise E Wilkins-Haug
Affiliations
Clinical Trial

Use of array comparative genomic hybridization for prenatal diagnosis of fetuses with sonographic anomalies and normal metaphase karyotype

Linda Kleeman et al. Prenat Diagn. 2009 Dec.

Abstract

Objective: To prospectively study the addition of array comparative genomic hybridization (CGH) to the prenatal evaluation of fetal structural anomalies.

Methods: Pregnant women carrying fetuses with a major structural abnormality were recruited at the time of invasive procedure for chromosome analysis. Only women whose fetuses had a normal karyotype (n = 50) were subsequently evaluated by array CGH using one of two arrays (1887 clones covering 622 loci or subsequently 4685 clones covering 1500 loci).

Results: The mean gestational age of the fetuses was 24.5 weeks (range 11-38 weeks). The most prevalent anomalies were cardiac, central nervous system, skeletal, and urogenital. The median turnaround time for culturing and array CGH diagnosis was 18 days (range 2-72). Four of 50 fetuses had abnormal array results. One (2%) was clinically significant and three (6%) were inherited or benign variants.

Conclusions: Array CGH studies in fetuses with sonographic anomalies and normal metaphase karyotype detected clinically significant copy number alterations in 1 of 50 cases. This percentage (2%) is consistent with prior prenatal reports. Further studies are warranted to more precisely identify which fetal anomalies are associated with copy number alterations of clinical significance.

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Figures

Figure 1
Figure 1
Analysis of mosaic trisomy 22 identified by microarray and FISH. (A) Microarray plot showing a normal chromosome 22. Clones are ordered on the x axis according to physical mapping positions with proximal 22q to the left and distal 22q to the right. The blue line represents the ratios for each clone from the first experiment (control Cy5/patient Cy3), and the pink line represents the ratios for each clone obtained from the second experiment in which the dyes have been reversed (patient Cy5/control Cy3). (B) Microarray plot showing chromosome 22 in the fetus. BAC clones are ordered as in (A). Pink shading indicates a gain over all clones. (C) Metaphase FISH analysis using BAC clone RP11-625J4 to the 22q13.31 region showed two copies in 19 out of 30 cells. (D) Metaphase FISH showed three copies of BAC clone RP11-625J4 in 11 out of 30 cells. These results are consistent with mosaic trisomy 22
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References

    1. Baris H, Bejjani BA, Tan WH, et al. Identification of a novel polymorphism—duplication of the NPHP1 (nephronophthisis 1) gene. Am J Med Genet. 2006;140(17):1876–1879. - PubMed
    1. Bejjani BA, Saleki R, Ballif BC, et al. Use of array-based CGH for the clinical diagnosis of chromosomal imbalance: is less more? Am J Med Genet A. 2005;134:259–267. - PubMed
    1. De Vries BBA, Winter R, Schinzel A, van Ravenswaaij-Arts C. Telomeres: a diagnosis at the end of the chromosomes. J Med Genet. 2003;40:385–398. - PMC - PubMed
    1. Flint J, Wilkie AO, Buckle VJ, Winter RM, Holland AJ, McDermid HE. The detection of subtelomeric chromosomal rearrangement in idiopathic mental retardation. Nat Genet. 1995;9(2):132–140. - PubMed
    1. Gignac J, Danis K, Tihy F, Lemyre F. Prenatal diagnosis of subtelomeric rearrangements by multi-subtelomere FISH in a cohort of fetuses with major malformations. Am J Med Genet A. 2006;140(24):2768–2775. - PubMed