From the Academic Medical Center Amsterdam, Amsterdam; Erasmus University Medical Center, Rotterdam; Leiden University Medical Center, Leiden; and University Medical Center Utrecht, Utrecht, The Netherlands.
Obstet Gynecol. 2010 Feb;115(2 Pt 1):297-303. doi: 10.1097/AOG.0b013e3181cbc652.
To estimate whether multiplex ligation-dependent probe amplification (MLPA), a molecular technique used for detecting the most common chromosomal aneuploidies, is comparable with karyotyping for the detection of aneuploidies of chromosomes X, Y, 13, 18, and 21 in routine clinical practice and to estimate the costs differences of both techniques.
In this prospective, nationwide cohort study, we consecutively included 4,585 women who had an amniocentesis because of their age (36 years or older), increased risk after prenatal screening, or maternal anxiety. Amniotic fluid samples were tested independently with both MLPA and karyotyping. The primary outcome was diagnostic accuracy of MLPA to detect aneuploidies of chromosomes X, Y, 13, 18, and 21. Secondary outcome measures were turnaround time for test results and costs. A sample size was calculated using a critical noninferiority margin of 0.002; therefore, at least 4,497 paired test results were needed (one-sided alpha 0.05, power 0.90).
Diagnostic accuracy of MLPA was 1.0 (95% confidence interval [CI] 0.99-1.0), sensitivity was 100% (95% CI 0.96-1.0) and specificity was 100% (95% CI 0.999-1.0). Diagnostic accuracy of MLPA was statistically similar (noninferior) to that of karyotyping (P<.001). In 75 cases, MLPA failed (1.6%); karyotyping failed once (0.02%). Compared with karyotyping, MLPA shortened the waiting time by 14.5 days (P<.001, 95% CI 14.3-14.6) and cost less (-47, P<.001).
In routine clinical practice, diagnostic accuracy of MLPA for detection of trisomies X, Y, 13, 18, and 21 is comparable with that of karyotyping, and it reduces waiting time at lower costs.
II.
评估多重连接依赖性探针扩增（MLPA），一种用于检测最常见染色体非整倍体的分子技术，是否与核型分析在常规临床实践中检测 X、Y、13、18 和 21 号染色体的非整倍体相当，并评估两种技术的成本差异。
在这项前瞻性、全国性队列研究中，我们连续纳入了 4585 名因年龄（36 岁及以上）、产前筛查后风险增加或母亲焦虑而接受羊膜穿刺术的女性。羊水样本分别用 MLPA 和核型分析进行独立检测。主要结局是 MLPA 检测 X、Y、13、18 和 21 号染色体非整倍体的诊断准确性。次要结局指标是检测结果的周转时间和成本。使用 0.002 的临界非劣效性边界计算样本量；因此，需要至少 4497 对配对检测结果（单侧α0.05，功率 0.90）。
MLPA 的诊断准确性为 1.0（95%置信区间 [CI] 0.99-1.0），灵敏度为 100%（95% CI 0.96-1.0），特异性为 100%（95% CI 0.999-1.0）。MLPA 的诊断准确性与核型分析统计学上相似（非劣效）（P<.001）。在 75 例中，MLPA 失败（1.6%）；核型分析失败一次（0.02%）。与核型分析相比，MLPA 缩短了 14.5 天的等待时间（P<.001，95% CI 14.3-14.6），且成本更低（-47，P<.001）。
在常规临床实践中，MLPA 检测 X、Y、13、18 和 21 三体的诊断准确性与核型分析相当，并且可以降低成本和缩短等待时间。
II。
