Array CGH in prenatal diagnosis: a review of alternative approach?

Abhijit Kulkarni1, Lucy Gugasyan1, Paul Shekleton2, Matthew Hunter3

1 Cytogenetics, Monash Pathology, Monash Medical Centre, Clayton, Victoria, 3168  
2 Fetal Diagnostic Unit, Monash Medical Centre, Monash Medical Centre, Victoria, 3168
3 Monash Genetics, Monash Medical Centre, Victoria, 3168


In Australia, Array CGH has replaced conventional cytogenetic analysis as the first line of investigation in prenatal diagnosis. One drawback is the detection of VoUS (Variations of Unknown Significance). There are now well established international guidelines for test indications, result interpretation and report writing for prenatal chromosomal analysis by Array CGH. Many laboratories take an approach to process all the prenatal samples by both FISH and Array CGH. We present data from the cytogenetics department at Monash Health, where array CGH was introduced in 2013 with a similar policy. There was a total of 850 prenatal specimens tested to date and 100 reports (11.7%) with VoUS issued, with parental studies completed in the majority of them. The internationally recommended approach of restricting array CGH testing to selected high risk cases with abnormal ultrasound scan and/or nuchal translucency of more than 3.5mm was implemented in September 2016 and 126 specimens are tested so far according to new protocol. We review and compare indications and fetal outcome for these cases.  Interpretation criteria’s for neurosusceptibilty loci in prenatal samples will be reviewed. The clinical and economic impact of the new approach with special emphasis in a public hospital setup will be summarized.


Dr Abhijit is Medical Scientist trained in India and UK, with special interest in Prenatal diagnosis. He was Head of Prenatal cytogenetics at St. Georges NHS hospital in London before moving to Australia.

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