Heesterbeek Catharina J, Tjan-Heijnen Vivianne C G, Heimovaara Joosje H, Lenaerts Liesbeth, Lok Christianne, Vriens Ingeborg J H, Van Opstal Diane, Boon Elles M J, Sie Daoud, de Die-Smulders Christine E M, Amant Frédéric, Macville Merryn V E
Department of Medical Oncology, GROW School for Oncology and Reproduction, Maastricht University Medical Centre, Maastricht, the Netherlands.
Department of Gynaecology, Antoni van Leeuwenhoek-Netherlands Cancer Institute, Amsterdam, the Netherlands.
Lancet Reg Health Eur. 2024 Aug 7;45:101024. doi: 10.1016/j.lanepe.2024.101024. eCollection 2024 Oct.
Incidentally, the non-invasive prenatal test (NIPT) shows chromosomal aberrations suspicious of a maternal malignancy, especially after genome-wide testing. The aim of this study is to determine how many cases of cancer in pregnancy are diagnosed or missed with NIPT and whether in retrospect subtle changes in NIPT results could have detected cancer.
We identified Dutch patients diagnosed in 2017-2021 with pregnancy-associated cancer from the International Network on Cancer, Infertility and Pregnancy (INCIP) Registry, who underwent NIPT in the Dutch NIPT implementation study (TRIDENT-2). We retrospectively assessed how many of these women showed a malignancy suspicious-NIPT, their tumour types and -stages, and the time interval between NIPT and cancer diagnosis.
Of 143 women with pregnancy-associated cancer, we included 65 patients that underwent an NIPT. Fifty-four women had a solid tumour and 11 a haematological malignancy. Sixteen (24.6%) NIPTs were malignancy suspicious (15 genome-wide, one targeted). All 10 haematological cancer patients with genome-wide NIPT had a malignancy suspicious-NIPT, irrespective of the disease stage. Only five patients with a solid tumour had a genome-wide malignancy suspicious-NIPT (4/5 advanced cancer stage III or IV). The mean time between date of NIPT and cancer diagnosis was significantly shorter after a malignancy suspicious-NIPT compared to a non-suspicious-NIPT, respectively 49.9 days (± SD 31.8) and 100.7 days (± SD 74.9), p = 0.001.
All genome-wide NIPT in women with pregnancy-associated haematological malignancies were malignancy suspicious. Women with a solid tumour showed a malignancy suspicious-NIPT in only a minority of cases, mainly the advanced stages.
None.
偶然发现，无创产前检测（NIPT）显示出疑似母体恶性肿瘤的染色体畸变，尤其是在全基因组检测之后。本研究的目的是确定NIPT诊断或漏诊了多少例妊娠期癌症病例，以及回顾性分析NIPT结果的细微变化是否能够检测出癌症。
我们从国际癌症、不孕与妊娠网络（INCIP）登记处中识别出2017年至2021年在荷兰被诊断为妊娠相关癌症且在荷兰NIPT实施研究（TRIDENT-2）中接受过NIPT检测的患者。我们回顾性评估了这些女性中有多少人显示出NIPT可疑恶性肿瘤、她们的肿瘤类型和分期，以及NIPT与癌症诊断之间的时间间隔。
在143例妊娠相关癌症女性中，我们纳入了65例接受过NIPT检测的患者。54例女性患有实体瘤，11例患有血液系统恶性肿瘤。16例（24.6%）NIPT结果可疑恶性肿瘤（15例全基因组检测，1例靶向检测）。所有10例接受全基因组NIPT检测的血液系统癌症患者均有NIPT可疑恶性肿瘤，与疾病分期无关。只有5例实体瘤患者全基因组NIPT结果可疑恶性肿瘤（4/5为晚期癌症III期或IV期）。与NIPT结果不可疑相比，NIPT结果可疑恶性肿瘤后至癌症诊断的平均时间明显更短，分别为49.9天（±标准差31.8）和100.7天（±标准差74.9），p = 0.001。
所有妊娠相关血液系统恶性肿瘤女性的全基因组NIPT结果均可疑恶性肿瘤。实体瘤女性仅在少数病例中显示NIPT结果可疑恶性肿瘤，主要是晚期病例。
无。
