Non-invasive prenatal genetic diagnosis using multiple displacement amplification / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To investigate the feasibility of multiple displacement amplification (MDA) to apply in the non-invasive prenatal genetic diagnosis of Duchenne muscular dystrophy (DMD).</p><p><b>METHODS</b>Maternal blood was obtained from 20 pregnant women at 7 to 25 weeks of gestation. After the discontinuous density gradient centrifugation with Percoll, the fetal nucleated red blood cells (NRBCs) were stained with Kleihauer test. All positive NRBCs were collected by micromanipulator and then performed with MDA. Sex and short tandern repeat (STR) analysis were determind from a small aliquot of the reaction. The origin of NRBCs was verified and prenatal diagnosis of DMD was made at the same time.</p><p><b>RESULTS</b>The product length of MDA was >15 kb, while primer extension preamplification (PEP) is only about 1 kb. We completed non-invasive prenatal genetic diagnosis of 6 fetus at high risk of DMD using MDA. The results were all coincident with amniotic fluid control.</p><p><b>CONCLUSION</b>The MDA method which provides a highly uniform representation across the genome, representing the entire genome with minimal amplification bias, shows good application prospects.</p>