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

Microarrays

Peter Miny¹  Friedel Wenzel¹  Sevgi Tercanli² 

[1] Medical Genetics, Department of Biomedicine, University Hospital Basel, Burgfelderstr. 101, Building J, CH-4055 Basel, Switzerland; E-Mails:;Ultraschall Freie Strasse, Freie Strasse 38, CH-4001 Basel, Switzerland; E-Mail:

关键词: microarrays;    array CGH;    prenatal diagnosis;   

DOI  :  10.3390/microarrays2040304

来源: mdpi

【 摘 要 】

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.

【 授权许可】

CC BY   
© 2013 by the authors; licensee MDPI, Basel, Switzerland.