Department of Radiology, Division of Body Imaging, Stanford University School of Medicine, Palo Alto, CA, USA.
Department of Oncology, KU Leuven, Leuven, Belgium.
Abdom Radiol (NY). 2023 May;48(5):1590-1598. doi: 10.1007/s00261-023-03913-1. Epub 2023 Apr 25.
Noninvasive prenatal screening (NIPS) tests for fetal chromosomal anomalies through maternal blood sampling. It is becoming widely available and standard of care for pregnant women in many countries. It is performed in the first trimester of pregnancy, usually between 9 and 12 weeks. Fragments of fetal cell-free deoxyribonucleic acid (DNA) floating in maternal plasma are detected and analyzed by this test to assess for chromosomal aberrations. Similarly, maternal tumor-derived cell-free DNA (ctDNA) released from the tumor cells also circulates in the plasma. Hence, the presence of genomic anomalies originating from maternal tumor-derived DNA may be detected on the NIPS-based fetal risk assessment in pregnant patients. Presence of multiple aneuploidies or autosomal monosomies are the most commonly reported NIPS abnormalities detected with occult maternal malignancies. When such results are received, the search for an occult maternal malignancy begins, in which imaging plays a crucial role. The most commonly detected malignancies via NIPS are leukemia, lymphoma, breast and colon cancers. Ultrasound is a reasonable radiation-free modality for imaging during pregnancy, specially when there are localizing symptoms or findings, such as palpable lumps. While there are no consensus guidelines on the imaging evaluation for these patients, when there are no localizing symptoms or clinically palpable findings, whole body MRI is recommended as the radiation-free modality of choice to search for an occult malignancy. Based on clinical symptoms, practice patterns, and available resources, breast ultrasound, chest radiographs, and targeted ultrasound evaluations can also be performed initially or as a follow-up for MRI findings. CT is reserved for exceptional circumstances due to its higher radiation dose. This article intends to increase awareness of this rare but stressful clinical scenario and guide imaging evaluation for occult malignancy detected via NIPS during pregnancy.
通过采集孕妇血液进行无创伤性产前筛查（NIPS）以检测胎儿染色体异常。该技术在许多国家已广泛应用于孕妇，成为临床常规检查。通常在妊娠 9-12 周时进行 NIPS。该检测通过分析孕妇血浆中游离的胎儿无细胞脱氧核糖核酸（DNA）片段，评估胎儿染色体异常。同样，来源于肿瘤细胞的游离循环母源肿瘤 DNA（ctDNA）也会释放到血浆中。因此，在基于 NIPS 的胎儿风险评估中，可能会检测到源自母源肿瘤衍生 DNA 的基因组异常。最常见的 NIPS 异常是检测到隐匿性母体恶性肿瘤存在多发性非整倍体或常染色体单体性。当收到此类结果时，会开始寻找隐匿性母体恶性肿瘤，其中影像学检查起着至关重要的作用。通过 NIPS 最常检测到的恶性肿瘤是白血病、淋巴瘤、乳腺癌和结肠癌。在怀孕期间，超声是一种合理的无辐射成像方式，特别是当存在局部症状或发现可触及的肿块时。尽管目前对于这些患者的影像学评估尚无共识指南，但如果没有局部症状或临床上可触及的发现，全身 MRI 是推荐的首选无辐射成像方式，以寻找隐匿性恶性肿瘤。根据临床症状、实践模式和现有资源，还可以进行乳腺超声、胸部 X 线片和靶向超声评估，作为 MRI 结果的初始或后续检查。由于 CT 辐射剂量较高，仅在特殊情况下使用。本文旨在提高对这种罕见但具有挑战性的临床情况的认识，并指导在怀孕期间通过 NIPS 检测隐匿性恶性肿瘤的影像学评估。
