Antolin Maria, Tarrasó Guillermo, Sánchez María Ángeles, Plaja Alberto, Martínez-Cruz Desiree, Xunclà Mar, Castells Neus, Carreras Elena, Tizzano Eduardo F, García-Arumí Elena
Department of Clinical and Molecular Genetics, Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona (UAB), 08035 Barcelona, Spain.
Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Universitat Autònoma de Barcelona (UAB), 08035 Barcelona, Spain.
J Clin Med. 2024 Jul 9;13(14):4007. doi: 10.3390/jcm13144007.
: Non-Invasive prenatal test (NIPT) is used as a universal or contingent test after prior risk assessment. Screening is mainly performed for common trisomies (T21, T13, T18), although other chromosomal anomalies may be detected. Our objective was to study the performance of GWNIPT in the detection of chromosomal abnormalities in pregnancies in which an invasive prenatal study was performed and in early pregnancy losses, in comparison with the reference test. VeriSeqTM NIPT Solution v2, a genome-wide NIPT (GWNIPT), was performed prior to invasive testing in fetal diagnostic study cases (FDS, = 155) and in early pregnancy losses (EPL, = 68). In the FDS group, the diagnostic test (QFPCR, array and karyotype) detected anomalies in 32 pregnancies (21%), in twenty of them (61%) also detected by GWNIPT. Eleven of the twelve cases undetected by GWNIPT were balanced translocations ( = 4) or deletions/duplications <7 Mb ( = 7). In the EPL group, GWNIPT detected anomalies in 46% of cases (31/68) but comparison with reference test (QFPCR and karyotype) in products of conception (POC) was only possible in 18 cases. Concordant results between POC and GWNIPT test were obtained in 16 of the 18 cases. In EPL, with GWNIPT testing, common trisomies accounted for 25.8% of cases (8/31), rare trisomies 54.8% (17/31) and microdeletions/duplications 16.1% (5/31). : The GWNIPT test may be useful in clinical practice in prenatal and in EPL's genetic diagnosis when the appropriate sample is not available.
无创产前检测（NIPT）在先前风险评估后用作通用或应急检测。筛查主要针对常见三体综合征（T21、T13、T18）进行，不过也可能检测到其他染色体异常。我们的目的是与参考检测相比，研究全基因组无创产前检测（GWNIPT）在进行侵入性产前检查的妊娠以及早期妊娠丢失中检测染色体异常的性能。在胎儿诊断研究病例（FDS，n = 155）和早期妊娠丢失（EPL，n = 68）中，在进行侵入性检测之前采用了VeriSeqTM NIPT Solution v2，一种全基因组无创产前检测（GWNIPT）。在FDS组中，诊断检测（QFPCR、芯片和核型分析）在32例妊娠（21%）中检测到异常，其中20例（61%）也被GWNIPT检测到。GWNIPT未检测到的12例病例中有11例是平衡易位（n = 4）或小于7 Mb的缺失/重复（n = 7）。在EPL组中，GWNIPT在46%的病例（31/68）中检测到异常，但仅在18例病例中能够将其与妊娠产物（POC）中的参考检测（QFPCR和核型分析）进行比较。18例病例中有16例获得了POC与GWNIPT检测结果一致。在EPL中，通过GWNIPT检测，常见三体综合征占病例的25.8%（8/31），罕见三体综合征占54.8%（17/31），微缺失/重复占16.1%（5/31）。：当没有合适的样本时，GWNIPT检测在产前临床实践和EPL的基因诊断中可能有用。
