Comparison of Multiplex Ligation-Dependent Probe Amplification and Karyotyping in Prenatal Diagnosis

摘要: OBJECTIVE: To estimate whether multiplex ligation-dependent probe amplification (MLPA), a molecular technique used for detecting the most common chromosomal aneuploidies, is comparable with karyotyping detection of aneuploidies chromosomes X, Y, 13, 18, and 21 in routine clinical practice to costs differences both techniques. METHODS: In this prospective, nationwide cohort study, we consecutively included 4,585 women who had an amniocentesis because their age (36 years or older), increased risk after prenatal screening, maternal anxiety. Amniotic fluid samples were tested independently MLPA karyotyping. The primary outcome was diagnostic accuracy detect 21. Secondary Measures turnaround time test results costs. A sample size calculated using critical noninferiority margin 0.002; therefore, at least 4,497 paired needed (one-sided alpha 0.05, power 0.90). RESULTS: Diagnostic 1.0 (95% confidence interval [CI] 0.99-1.0), sensitivity 100% CI 0.96-1.0) specificity 0.999-1.0). statistically similar (noninferior) that (P CONCLUSION: practice, trisomies karyotyping, it reduces waiting lower (Obstet Gynecol 2010,115:297-303)