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Microarrays 2013, 2(4), 304-317; doi:10.3390/microarrays2040304

Chromosomal Microarrays in Prenatal Diagnosis: Time for a Change of Policy?

1,* , 1
, 2
 and 1,3
Received: 22 October 2013 / Revised: 19 November 2013 / Accepted: 27 November 2013 / Published: 5 December 2013
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Abstract: Microarrays have replaced conventional karyotyping as a first-tier test for unbalanced chromosome anomalies in postnatal cytogenetics mainly due to their unprecedented resolution facilitating the detection of submicroscopic copy number changes at a rate of 10–20% depending on indication for testing. A number of studies have addressed the performance of microarrays for chromosome analyses in high risk pregnancies due to abnormal ultrasound findings and reported an excess detection rate between 5% and 10%. In low risk pregnancies, clear pathogenic copy number changes at the submicroscopic level were encountered in 1% or less. Variants of unclear clinical significance, unsolicited findings, and copy number changes with variable phenotypic consequences are the main issues of concern in the prenatal setting posing difficult management questions. The benefit of microarray testing may be limited in pregnancies with only moderately increased risks (advanced maternal age, positive first trimester test). It is suggested to not change the current policy of microarray application in prenatal diagnosis until more data on the clinical significance of copy number changes are available.
Keywords: microarrays; array CGH; prenatal diagnosis microarrays; array CGH; prenatal diagnosis
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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MDPI and ACS Style

Miny, P.; Wenzel, F.; Tercanli, S.; Filges, I. Chromosomal Microarrays in Prenatal Diagnosis: Time for a Change of Policy? Microarrays 2013, 2, 304-317.

AMA Style

Miny P, Wenzel F, Tercanli S, Filges I. Chromosomal Microarrays in Prenatal Diagnosis: Time for a Change of Policy? Microarrays. 2013; 2(4):304-317.

Chicago/Turabian Style

Miny, Peter; Wenzel, Friedel; Tercanli, Sevgi; Filges, Isabel. 2013. "Chromosomal Microarrays in Prenatal Diagnosis: Time for a Change of Policy?" Microarrays 2, no. 4: 304-317.

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