Abstract：
To clinically assess a cell-based noninvasive prenatal genetic test using sequence-based copy number analysis of single trophoblasts from maternal blood.
Blood was obtained from 401 (243 + 158) individuals (8-22 weeks) and shipped overnight. Red cells were lysed, and nucleated cells stained for cytokeratin (CK) and CD45 and enriched for positive CK staining. Automated scanning was used to identify and pick single CK+ /CD45- trophoblasts which were subjected to next-generation sequencing.
Blood was obtained from 243 pregnancies scheduled for CVS or amniocentesis. Luna results were normal for 160 singletons while 15 cases were abnormal (14 aneuploidy and one monozygotic twin with Williams syndrome deletion). The deletion was confirmed in both fetuses. Placental mosaicism occurred in 7 of 236 (3.0%) Luna cases and in 3 of 188 (1.6%) CVS cases (total 4.6%). No scorable trophoblasts were recovered in 32 of 236 usable samples. Additionally, 158 low-risk pregnancies not undergoing CVS/amniocentesis showed normal results in 133 cases. Seven had aneuploidy results, and there were three likely pathogenic deletions/duplications, including one15q11-q13 deletion.
Although the sample size is modest and statistically accurate measures of test performance are not possible, the Luna test detected aneuploidy and deletions/duplications based on concordance with CVS/amniocentesis.
Blood was obtained from 401 (243 + 158) individuals (8-22 weeks) and shipped overnight. Red cells were lysed, and nucleated cells stained for cytokeratin (CK) and CD45 and enriched for positive CK staining. Automated scanning was used to identify and pick single CK+ /CD45- trophoblasts which were subjected to next-generation sequencing.
Blood was obtained from 243 pregnancies scheduled for CVS or amniocentesis. Luna results were normal for 160 singletons while 15 cases were abnormal (14 aneuploidy and one monozygotic twin with Williams syndrome deletion). The deletion was confirmed in both fetuses. Placental mosaicism occurred in 7 of 236 (3.0%) Luna cases and in 3 of 188 (1.6%) CVS cases (total 4.6%). No scorable trophoblasts were recovered in 32 of 236 usable samples. Additionally, 158 low-risk pregnancies not undergoing CVS/amniocentesis showed normal results in 133 cases. Seven had aneuploidy results, and there were three likely pathogenic deletions/duplications, including one15q11-q13 deletion.
Although the sample size is modest and statistically accurate measures of test performance are not possible, the Luna test detected aneuploidy and deletions/duplications based on concordance with CVS/amniocentesis.
摘要：
目的：使用基于序列的单个滋养细胞拷贝数分析，对基于细胞的无创性产前基因检测进行临床评估。
方法:从401(243+158)名个体(8-22周)获得血液并运送过夜。红细胞被裂解,和有核细胞对细胞角蛋白（CK）和CD45染色，并富集阳性CK染色。使用自动扫描来鉴定和挑选单个CK+/CD45-滋养层,其经受下一代测序。
结果：从计划进行CVS或羊膜穿刺术的243例妊娠中获得血液。160例单例的Luna结果正常，而15例异常（14例非整倍性和1例单卵双生子伴威廉姆斯综合征缺失）。在两个胎儿中都证实了缺失。236例Luna病例中有7例（3.0％）发生胎盘镶嵌，188例CVS病例中有3例（1.6％）发生胎盘镶嵌（总计4.6％）。在236个可用样品中的32个中没有回收到可评价的滋养层。此外,158例未接受CVS/羊膜穿刺术的低危妊娠在133例中显示正常结果。七个有非整倍性结果，有三个可能的致病性缺失/重复，包括one15q11-q13删除。
结论：尽管样本量适中，并且无法对测试性能进行统计准确的测量，根据与CVS/羊膜穿刺术的一致性，Luna试验检测到非整倍体和缺失/重复。
方法:从401(243+158)名个体(8-22周)获得血液并运送过夜。红细胞被裂解,和有核细胞对细胞角蛋白（CK）和CD45染色，并富集阳性CK染色。使用自动扫描来鉴定和挑选单个CK+/CD45-滋养层,其经受下一代测序。
结果：从计划进行CVS或羊膜穿刺术的243例妊娠中获得血液。160例单例的Luna结果正常，而15例异常（14例非整倍性和1例单卵双生子伴威廉姆斯综合征缺失）。在两个胎儿中都证实了缺失。236例Luna病例中有7例（3.0％）发生胎盘镶嵌，188例CVS病例中有3例（1.6％）发生胎盘镶嵌（总计4.6％）。在236个可用样品中的32个中没有回收到可评价的滋养层。此外,158例未接受CVS/羊膜穿刺术的低危妊娠在133例中显示正常结果。七个有非整倍性结果，有三个可能的致病性缺失/重复，包括one15q11-q13删除。
结论：尽管样本量适中，并且无法对测试性能进行统计准确的测量，根据与CVS/羊膜穿刺术的一致性，Luna试验检测到非整倍体和缺失/重复。
