Pregnant women with confirmed neoplasms should not have noninvasive prenatal testing

Lenaerts, Liesbeth; Calsteren, Kristel Van; Che, Huiwen; Vermeesch, Joris Robert; Amant, Frédéric

doi:10.1002/pd.5544

Cited by 18 publications

(16 citation statements)

References 14 publications

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“…Because fetal cfDNA fractions exist in a high background of maternal cfDNA, NIPT can also detect maternal chromosomal abnormalities, like those resulting from maternal mosaicisms or malignancies [3] . Indeed, various reports have shown that NIPT detection of tumor-derived cfDNA (ctDNA) in pregnant women with an occult malignancy was causing the aberrant cfDNA signal thereby disturbing the interpretation of fetal trisomies [4] , [5] , [6] , [7] , [8] , [9] . As the use of NIPT is increasingly expanding to low-risk pregnancies - in some countries it is offered as a first-tier test to all pregnant women - and its scope is being broadened beyond aneuploidy screening, more aberrant results, caused by a malignancy, are expected to emerge.…”

Section: Introductionmentioning

confidence: 99%

Comprehensive genome-wide analysis of routine non-invasive test data allows cancer prediction: A single-center retrospective analysis of over 85,000 pregnancies

Lenaerts

Brison²,

Maggen

et al. 2021

EClinicalMedicine

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Background: Implausible false positive results in non-invasive prenatal testing (NIPT) have been occasionally associated with the detection of occult maternal malignancies. Hence, there is a need for approaches allowing accurate prediction of whether the NIPT result is pointing to an underlying malignancy, as well as for organized programs ensuring efficient downstream clinical management of these cases. Methods: Using a data set of 88,294 NIPT performed at University Hospital Leuven (Belgium) between November 2013 and March 2020, we retrospectively evaluated the positive predictive value (PPV) of our NIPT approach for cancer detection. In this approach, whole-genome cell-free DNA (cfDNA) data from NIPT were scrutinized for the presence of (sub)chromosomal copy number alterations (CNAs) predictive for a malignancy, using an unbiased NIPT analysis pipeline coined GIPSeq. For suspected cases, the presence of a maternal cancer was evaluated via subsequent multidisciplinary clinical follow-up examinations. The cancer-specificity of the identified CNAs in cfDNA was assessed through genetic analyses of a tumor biopsy. Findings: Fifteen women without a cancer history were identified with a GIPSeq result suggestive of a malignant process. Their cfDNA profiles showed either genome-wide aberrations or a single trisomy 8. Upon clinical examinations, a solid or hematological cancer was identified in 4 and 7 cases, respectively. Three women were identified as having a clonal mosaicism. For one case no underlying condition was found. These numbers add to a PPV of 73%. Based on this experience, we presented a multidisciplinary care path for efficient clinical management of these cases. Interpretation: The presented approach for analysing NIPT results has a high PPV, yet unknown sensitivity, for detecting asymptomatic malignancies upon routine NIPT. Given the complexity of diagnosing a pregnant

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Section: Introductionmentioning

confidence: 99%

Comprehensive genome-wide analysis of routine non-invasive test data allows cancer prediction: A single-center retrospective analysis of over 85,000 pregnancies

Lenaerts

Brison²,

Maggen

et al. 2021

EClinicalMedicine

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“…37 As a consequence, non-invasive prenatal testing in women with a known cancer diagnosis is non-informative and alternative prenatal screening testing should be offered. 38 Obstetric Ultrasound Available large case series reveal that neonates prenatally exposed to chemotherapy are at risk of being born small for gestational age, defined as a customized birth weight percentile below 10. 5 Besides constitutionally small neonates, explained by inherited factors, this definition also incorporates fetuses that did not reach their growth potential and are pathologically growth-restricted.…”

Section: Obstetric Managementmentioning

confidence: 99%

“…37 As a consequence, non-invasive prenatal testing in women with a known cancer diagnosis is non-informative and alternative prenatal screening testing should be offered. 38 …”

Section: Obstetric and Perinatal Managementmentioning

confidence: 99%

Management of pregnancy in women with cancer

Wolters

Heimovaara

Maggen

et al. 2021

Int J Gynecol Cancer

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As the incidence of cancer in pregnancy has been increasing in recent decades, more specialists are confronted with a complex oncologic–obstetric decision-making process. With the establishment of (inter)national registries, including the International Network on Cancer, Infertility and Pregnancy, and an increasing number of smaller cohort studies, more evidence on the management of cancer during pregnancy is available. As fetal, neonatal, and short-term pediatric outcomes after cancer treatment are reassuring, more women receive treatment during pregnancy. Prenatal treatment should adhere to standard treatment as much as possible to optimize maternal prognosis, always taking into account fetal well-being. In order to guarantee the optimal treatment for both mother and child, a multidisciplinary team of specialists with expertise should be involved. Apart from oncologic treatment, a well-considered obstetric and perinatal management plan discussed with the future parents is crucial. Results of non-invasive prenatal testing are inconclusive in women with cancer and alternatives for prenatal anomaly screening should be used. Especially in women treated with chemotherapy, serial ultrasounds are strongly recommended to follow-up fetal growth and cervical length. After birth, a neonatal assessment allows the identification of any cancer or treatment-related adverse events. In addition, placental histologic examination aims to assess the fetal risk of metastasis, especially in women with malignant melanoma or metastatic disease. Breastfeeding is discouraged when systemic treatment needs to be continued after birth. At least a 3-week interval between the last treatment and nursing is recommended to prevent any treatment-induced neonatal effects from most non-platinum chemotherapeutic agents.

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“…Indeed, cancer can be identified accidentally after an aberrant noninvasive prenatal testing result, not unusually observed as a simultaneous presence of imbalances in several chromosomes. 2 This not only will result in an inconclusive noninvasive prenatal testing result, but also should raise awareness of potential underlying maternal cancer. Diffusion-weighted whole-body magnetic resonance imaging is used in our clinic to examine these women for an underlying malignancy.…”

mentioning

confidence: 99%

“…Furthermore, noninvasive prenatal testing in women with earlier diagnosed cancer is noninformative because cancer potentially skews the test results. 2 These women should be advised of alternative screening or testing options, including nuchal thickness measurement and a structural ultrasonography.…”

mentioning

confidence: 99%