LETTER TO JMG

Rapid, high throughput prenatal detection of aneuploidy using a novel quantitative method (MLPA)

H R Slater¹, D L Bruno¹, H Ren¹, M Pertile¹, J P Schouten², K H A Choo¹

¹ Genetic Health Services, Victoria and Murdoch Children’s Research Institute, Royal Children’s Hospital, Melbourne, Australia
² MRC Holland, Amsterdam, the Netherlands

Correspondence to:
Correspondence to:
Dr H R Slater
Cytogenetics Laboratory, Genetic Health Services Victoria, MCRI, Royal Children’s Hospital, Parkville, Vic 3052, Australia; slaterh@cryptic.rch.unimelb.edu.au

Keywords: prenatal diagnosis; aneuploidy; multiplex ligation dependent probe amplification (MLPA); uncultured amniocytes

Abbreviations: FISH, fluorescent in situ hybridisation; MLPA, multiplex ligation dependent probe amplification; QF, quantitative fluorescence; STR, short tandem repeats

The first 150 words of the full text of this article appear below.

Prenatal diagnosis of syndromes caused by chromosomal abnormality is a long established part of obstetric care in developed countries. In this area, there have been recent significant advances in the identification of high risk pregnancies using sophisticated serum analyte and ultrasound screening methods.^1,2 For follow up diagnostic testing, karyotyping has provided the gold standard. This technology has remained essentially unchanged over 30 years, as no new technology has yet proven superior in terms of being able to detect such a wide range of abnormalities with the necessary precision. Nevertheless, molecular tests, such as fluorescent in situ hybridisation (FISH) ³ and short tandem repeat analysis,⁴ are now in common practice for the diagnosis of specific abnormalities. These adjunctive tests importantly decrease turnaround times from 1–2 weeks to 1–2 days.

We assessed the performance of multiplex ligation dependent probe amplification (MLPA) as an alternative method for the detection of aneuploidy, which is by . . . [Full text of this article]

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