Guanciali Franchi Paolo, Palka Chiara, Morizio Elisena, Sabbatinelli Giulia, Alfonsi Melissa, Fantasia Donatella, Sitar Giammaria, Benn Peter, Calabrese Giuseppe
Department of Medical, Oral and Biotechnological Science, Chieti-Pescara University, Chieti, Italy.
Department of Hematology, Pescara Hospital, Pescara, Italy.
PLoS One. 2017 Dec 7;12(12):e0189235. doi: 10.1371/journal.pone.0189235. eCollection 2017.
From January 1st 2013 to August 31st 2016, 24408 pregnant women received the first trimester Combined test and contingently offered second trimester maternal serum screening to identify those women who would most benefit from invasive prenatal diagnosis (IPD). The screening was based on first trimester cut-offs of ≥1:30 (IPD indicated), 1:31 to 1:899 (second trimester screening indicated) and ≤1:900 (no further action), and a second trimester cut-off of ≥1:250. From January 2014, analysis of fetal cells from peripheral maternal blood was also offered to women with positive screening results. For fetal Down syndrome, the overall detection rate was 96.8% for a false-positive rate of 2.8% resulting in an odds of being affected given a positive result (OAPR) of 1:11, equivalent to a positive predictive value (PPV) of 8.1%. Additional chromosome abnormalities were also identified resulting in an OAPR for any chromosome abnormality of 1:6.6 (PPV 11.9%). For a sub-set of cases with positive contingent test results, FISH analysis of circulating fetal cells in maternal circulation identified 7 abnormal and 39 as normal cases with 100% specificity and 100% sensitivity. We conclude that contingent screening using conventional Combined and second trimester screening tests is effective but can potentially be considerably enhanced through the addition of fetal cell analysis.
2013年1月1日至2016年8月31日，24408名孕妇接受了孕早期联合检测，并视情况接受了孕中期母血清筛查，以确定那些将从侵入性产前诊断（IPD）中获益最大的女性。筛查基于孕早期的截断值：≥1:30（建议进行IPD）、1:31至1:899（建议进行孕中期筛查）和≤1:900（无需进一步检查），以及孕中期截断值≥1:250。从2014年1月起，还为筛查结果呈阳性的女性提供了外周母血胎儿细胞分析。对于胎儿唐氏综合征，总体检测率为96.8%，假阳性率为2.8%，阳性结果时受影响的几率（OAPR）为1:11，相当于阳性预测值（PPV）为8.1%。还发现了其他染色体异常，导致任何染色体异常的OAPR为1:6.6（PPV 11.9%）。对于一部分临时检测结果呈阳性的病例，对母血中循环胎儿细胞进行FISH分析，确定7例异常和39例正常病例，特异性和敏感性均为100%。我们得出结论，使用传统联合检测和孕中期筛查进行临时筛查是有效的，但通过增加胎儿细胞分析可能会显著提高筛查效果。
