Srebniak Malgorzata I, Knapen Maarten F C M, Polak Marike, Joosten Marieke, Diderich Karin E M, Govaerts Lutgarde C P, Boter Marjan, Kromosoeto Joan N R, van Hassel Daniella Aloysia C M, Huijbregts Gido, van IJcken Wilfred F J, Heydanus Roger, Dijkman Anneke, Toolenaar Toon, de Vries Femke A T, Knijnenburg Jeroen, Go Attie T J I, Galjaard Robert-Jan H, Van Opstal Diane
Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands.
Department of Obstetrics and Gynecology, Erasmus Medical Centre, Rotterdam, The Netherlands.
Hum Mutat. 2017 Jul;38(7):880-888. doi: 10.1002/humu.23232. Epub 2017 May 30.
Prenatal diagnostics has been impacted by technological changes in the past decade, which have affected the diagnostic yield. The aim of this study was to evaluate the impact of SNP array and noninvasive prenatal testing (NIPT) on the diagnostic yield and the number of invasive tests in our center. The frequency of pathogenic fetal unbalanced chromosome aberrations was studied in 10,005 cases referred for prenatal testing in 2009-2015. Chromosomal SNP microarray analysis replaced karyotyping in all invasively tested pregnancies and since 2014 a choice between NIPT and diagnostic testing with microarray was offered to women with an increased risk for common aneuploidy. The introduction of microarray led to an additional yield of submicroscopic pathogenic chromosome aberrations: 3.6% in fetuses with ultrasound anomalies and 1.9% in fetuses without ultrasound anomalies. The introduction of NIPT led to a decrease of invasive tests and of diagnostic yield. Moreover, a diagnostic delay in about 1:350 cases was observed. Since 20%-33% of pathogenic fetal chromosome aberrations are different from the common aneuploidies and triploidy, whole-genome analysis should be offered after invasive sampling. Because NIPT (as a second screening) has led to a decreased diagnostic yield, it should be accompanied by an appropriate pretest counseling.
在过去十年中，产前诊断受到技术变革的影响，这些变革影响了诊断率。本研究的目的是评估单核苷酸多态性（SNP）芯片和无创产前检测（NIPT）对本中心诊断率和侵入性检测数量的影响。对2009年至2015年转诊进行产前检测的10005例病例中致病性胎儿染色体不平衡畸变的频率进行了研究。在所有接受侵入性检测的妊娠中，染色体SNP微阵列分析取代了核型分析，自2014年以来，对于常见非整倍体风险增加的女性，提供了NIPT和微阵列诊断检测之间的选择。微阵列的引入导致了亚显微致病性染色体畸变的额外检出率：超声异常胎儿中为3.6%，无超声异常胎儿中为1.9%。NIPT的引入导致侵入性检测和诊断率下降。此外，观察到约1/350的病例出现诊断延迟。由于20%-33%的致病性胎儿染色体畸变不同于常见的非整倍体和三倍体，因此在侵入性采样后应提供全基因组分析。由于NIPT（作为二次筛查）导致诊断率下降，因此应伴有适当的检测前咨询。
