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Molecular cytogenetics in obstetric practice

Department of Obstetrics and Gynaecology, University College London, 86-96 Chenies Mews, London, WC1E 6HX, UK E-mail: j.delhanty{at}ucl.ac.uk

Results from the culture and full karyotyping of prenatal samples typically take at least 14 days to obtain. In contrast, results from the latest molecular cytogenetic techniques for the most common aneuplodies are available within 24-48 hours of receipt. A recent interim recommendation by the UK National Screening Committee was that new screening programmes for Down syndrome need not include follow-up karyotyping. In this article, the advantages and disadvantages of these tests are discussed. Evidence is available to support that they are accurate and efficient enough to be used as stand-alone tests, provided that a policy is implemented to ensure full karyotyping of all samples where fetal anomalies have been detected on ultrasound.

Keywords comparative genomic hybridisation / interphase FISH / molecular cytogenetics / preimplantation diagnosis / quantitative fluorescent PCR