Strategies for the rapid prenatal diagnosis of chromosome aneuploidy.

摘要: Rapid diagnosis of common chromosome aneuploidies in raised risk pregnancies, usually prior to full karyotype analysis, is now carried out a number European genetic centres; several techniques for detecting genomic copy changes have been described. Prenatal disease requires accurate and robust assays; the invasive procedures are associated with pregnancy loss an abnormal result may lead termination pregnancy. The testing prenatal material (amniotic fluid, chorionic villi or, more rarely, fetal blood) specific problems, including quality quantity tissue difficulties interpretation due phenomena such as maternal cell contamination mosaicism. In addition, there 24-h, high-throughput demands on centres offering service. extent which existing proposed strategies, different PCR-based assays, multiplex ligation-dependent probe amplification approach, microarrays, fulfil requirements rapid discussed. past 3 years, we tested 7720 samples trisomies 13, 18 21 using quantitative fluorescence-PCR (QF-PCR) approach. abnormality rate was 5.7%. There were no misdiagnoses nonmosaic trisomy, failure 0.09% samples, 97% received report working day following sample receipt. Maternal mosaicism also detected. Our data recommend QF-PCR approach current method choice aneuploidy testing.