Kooper Angelique Ja, Pieters Jacqueline Jpm, Faas Brigitte Hw, Hoefsloot Lies H, van der Burgt Ineke, Zondervan Hans A, Smits Arie Pt
Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, the Netherlands.
Mol Cytogenet. 2012 Jan 27;5(1):7. doi: 10.1186/1755-8166-5-7.
As a routine, karyotyping of invasive prenatal samples is performed as an adjunct to referrals for DNA mutation detection and metabolic testing. We performed a retrospective study on 500 samples to assess the diagnostic value of this procedure. These samples included 454 (90.8%) chorionic villus (CV) and 46 (9.2%) amniocenteses specimens. For CV samples karyotyping was based on analyses of both short-term culture (STC) and long-term culture (LTC) cells. Overall, 19 (3.8%) abnormal karyotypes were denoted: four with a common aneuploidy (trisomy 21, 18 and 13), two with a sex chromosomal aneuploidy (Klinefelter syndrome), one with a sex chromosome mosaicism and twelve with various autosome mosaicisms. In four cases a second invasive test was performed because of an abnormal finding in the STC. Taken together, we conclude that STC and LTC karyotyping has resulted in a diagnostic yield of 19 (3.8%) abnormal cases, including 12 cases (2.4%) with an uncertain significance. From a diagnostic point of view, it is desirable to limit uncertain test results as secondary test findings. Therefore, we recommend a more targeted assay, such as e.g. QF-PCR, as a replacement of the STC and to provide parents the autonomy to choose between karyotyping and QF-PCR.
作为一项常规操作，对侵入性产前样本进行核型分析，作为DNA突变检测和代谢检测转诊的辅助手段。我们对500份样本进行了回顾性研究，以评估该操作的诊断价值。这些样本包括454份（90.8%）绒毛膜绒毛（CV）样本和46份（9.2%）羊水穿刺样本。对于CV样本，核型分析基于短期培养（STC）细胞和长期培养（LTC）细胞的分析。总体而言，共发现19例（3.8%）异常核型：4例为常见非整倍体（21、18和13三体），2例为性染色体非整倍体（克兰费尔特综合征），1例为性染色体嵌合体，12例为各种常染色体嵌合体。4例因STC检测结果异常而进行了第二次侵入性检测。综上所述，我们得出结论，STC和LTC核型分析诊断出19例（3.8%）异常病例，其中12例（2.4%）意义不明确。从诊断角度来看，希望将不确定的检测结果作为二次检测结果进行限制。因此，我们建议采用更具针对性的检测方法，如QF-PCR，取代STC检测，并赋予父母在核型分析和QF-PCR之间进行选择的自主权。
