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Non-invasive prenatal testing suggesting a maternal malignancy: What do we tell the prospective parents in Belgium?
Prenatal Diagnosis ( IF 2.7 ) Pub Date : 2021-08-17 , DOI: 10.1002/pd.6031
Lore Lannoo 1 , Liesbeth Lenaerts 2 , Kris Van Den Bogaert 3 , Huiwen Che 3 , Nathalie Brison 3 , Koen Devriendt 3 , Frédéric Amant 2, 4 , Joris Robert Vermeesch 3 , Kristel Van Calsteren 1
Affiliation  

Cancer is diagnosed in one in 1000 to 1500 pregnancies. Most frequently encountered malignancies during pregnancy are breast cancer, hematological cancer, cervical cancer and malignant melanoma. Maternal cancer is associated with an increased risk of IUGR and preterm labor, especially in patients with systemic disease or those receiving chemotherapy during pregnancy, requiring a high-risk obstetrical follow-up. Fetal aneuploidy screening by non-invasive prenatal testing (NIPT) can lead to the incidental identification of copy number alterations derived from non-fetal cell-free DNA (cfDNA), as seen in certain cases of maternal malignancy. The identification of tumor-derived cfDNA requires further clinical, biochemical, radiographic and histological investigations to confirm the diagnosis. In such cases, reliable risk estimation for fetal trisomy 21, 18 and 13 is impossible. Therefore, invasive testing should be offered when ultrasonographic screening reveals an increased risk for chromosomal anomalies, or when a more accurate test is desired. When the fetal karyotype is normal, long term implications for the fetus refer to the consequences of the maternal disease and treatment during pregnancy. This manuscript addresses parental questions when NIPT suggests a maternal malignancy. Based on current evidence and our own experience, a clinical management scheme in a multidisciplinary setting is proposed.

中文翻译:

提示母体恶性肿瘤的无创产前检测:我们要告诉比利时的准父母什么?

每 1000 到 1500 次妊娠中就有 1 次被诊断出癌症。怀孕期间最常见的恶性肿瘤是乳腺癌、血液癌、宫颈癌和恶性黑色素瘤。孕产妇癌症与 IUGR 和早产风险增加有关,特别是在患有全身性疾病或怀孕期间接受化疗的患者中,需要高风险的产科随访。通过非侵入性产前检测 (NIPT) 进行的胎儿非整倍体筛查可导致偶然识别源自非胎儿无细胞 DNA (cfDNA) 的拷贝数改变,如某些母体恶性肿瘤病例所见。肿瘤来源的 cfDNA 的鉴定需要进一步的临床、生化、放射学和组织学调查来确认诊断。在这种情况下,可靠的胎儿 21 三体风险评估,18和13是不可能的。因此,当超声筛查显示染色体异常的风险增加时,或需要更准确的检测时,应提供侵入性检测。当胎儿核型正常时,对胎儿的长期影响是指孕期母体疾病和治疗的后果。当 NIPT 提示母体恶性肿瘤时,这份手稿解决了父母的问题。根据目前的证据和我们自己的经验,提出了多学科环境中的临床管理方案。对胎儿的长期影响是指孕期母体疾病和治疗的后果。当 NIPT 提示母体恶性肿瘤时,这份手稿解决了父母的问题。根据目前的证据和我们自己的经验,提出了多学科环境中的临床管理方案。对胎儿的长期影响是指孕期母体疾病和治疗的后果。当 NIPT 提示母体恶性肿瘤时,这份手稿解决了父母的问题。根据目前的证据和我们自己的经验,提出了多学科环境中的临床管理方案。
更新日期:2021-09-29
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