Incidental finding of maternal malignancy in an unusual non‐invasive prenatal test and a review of similar cases

Moellgaard, Maria Hammer; Lund, Ida Charlotte Bay; Becher, Naja; Skytte, Anne‐Bine; Andreasen, Lotte; Srebniak, Malgorzata I.; Vogel, Ida

doi:10.1002/ccr3.6280

Cited by 2 publications

(2 citation statements)

References 33 publications

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“…Looking back, this is primarily an issue in the rare cases where mosaicism for sex‐chromosome disorders or mosaicism for CNVs are detected. Over time, we investigated how culturing may affect the aberrations 16 , 17 and, here, simultaneous DNA analyses and culturing would have facilitated learning.…”

Section: Discussionmentioning

confidence: 99%

A decade of change – lessons learned from prenatal diagnostics in Central Denmark region in 2008–2018

Lildballe

Becher

Vestergaard

et al. 2023

Acta Obstet Gynecol Scand

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IntroductionIn 2011, it was decided to implement chromosomal microarray in prenatal testing in the Central Denmark Region, mainly due to the expected higher diagnostic yield. Chromosomal microarray was introduced gradually for an increasing number of pregnancies and without a transition period where both karyotyping and chromosomal microarray were performed: first malformations (2011), then large nuchal translucency (2013), then high risk at combined first trimester risk screening (2016) and finally for all indications (2018). This retrospective study summarizes 11 years of using chromosomal microarray in invasive prenatal testing and presents the effect on diagnostic yield and turnaround time. Furthermore, the concerns when introducing chromosomal microarray are presented and discussed.Material and methodsRegistry data from the Danish Fetal Medicine Database, the regional fetal medicine database, the Danish Cytogenetic Central Register and the local laboratory database at Department of Clinical Genetics were all combined, and a cohort of 147 158 singleton pregnancies with at least one ultrasound examination was establishedResultsOf the 147 158 pregnancies, invasive sampling was performed (chorionic villi or amniocytes) in 8456, corresponding to an overall invasive rate of 5.8%. Between 2016 and 2018, 3.4% (95% confidence interval [CI] 2.8–4.2%; n = 86) of the invasive samples (n = 2533) had a disease causing copy number variant and 5.3% (95% CI 4.4–6.2%; n = 133) had trisomies and other aneuploidies. The turnaround time more than halved from 14 days to an average of 5.5 days for chorionic villus sampling.ConclusionsChromosomal microarray identified 5.3% trisomies and 3.4% copy number variants, thereby increased the diagnostic yield by more than 64% compared with karyotype only and it also more than halved the turnaround time. Some preliminary concerns proved real, eg prenatal counseling complexity, but these have been resolved over time in a clinical path with expert consultations.

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Section: Discussionmentioning

confidence: 99%

A decade of change – lessons learned from prenatal diagnostics in Central Denmark region in 2008–2018

Lildballe

Becher

Vestergaard

et al. 2023

Acta Obstet Gynecol Scand

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“…While an NIPT test aims to diagnose chromosomal aberrations in fetal DNA, different chromosomal patterns in maternal DNA have been incidentally detected, which raised the suspicion of maternal malignancy [ 5 , 6 ]. The majority of these cancers were of hematologic origin, yet solid tumors, such as colorectal, gastric, breast and ovarian cancer, were also detected [ 5 , 6 , 7 ]. The recently published TRIDENT-2 study showed a prevalence of 70% maternal malignancy in individuals with two or more CNVs [ 8 ].…”

Section: Introductionmentioning

confidence: 99%

An 8q24 Gain in Pancreatic Juice Is a Candidate Biomarker for the Detection of Pancreatic Cancer

Levink

Srebniak

Valk

et al. 2023

IJMS

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Secretin-stimulated pancreatic juice (PJ), collected from the duodenum, presents a valuable biomarker source for the (earlier) detection of pancreatic cancer (PC). Here, we evaluate the feasibility and performance of shallow sequencing to detect copy number variations (CNVs) in cell-free DNA (cfDNA) from PJ for PC detection. First, we confirmed the feasibility of shallow sequencing in PJ (n = 4), matched plasma (n = 3) and tissue samples (n = 4, microarray). Subsequently, shallow sequencing was performed on cfDNA from PJ of 26 cases (25 sporadic PC, 1 high-grade dysplasia) and 19 controls with a hereditary or familial increased risk of PC. 40 of the 45 PJ samples met the quality criteria for cfDNA analysis. Nine individuals had an 8q24 gain (oncogene MYC; 23%; eight cases (33%) and one control (6%), p = 0.04); six had both a 2q gain (STAT1) and 5p loss (CDH10; 15%; four cases (7%) and two controls (13%), p = 0.72). The presence of an 8q24 gain differentiated the cases and controls, with a sensitivity of 33% (95% CI 16–55%) and specificity of 94% (95% CI 70–100%). The presence of either an 8q24 or 2q gain with a 5p loss was related to a sensitivity of 50% (95% CI 29–71%) and specificity of 81% (95% CI 54–96%). Shallow sequencing of PJ is feasible. The presence of an 8q24 gain in PJ shows promise as a biomarker for the detection of PC. Further research is required with a larger sample size and consecutively collected samples in high-risk individuals prior to implementation in a surveillance cohort.

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Incidental finding of maternal malignancy in an unusual non‐invasive prenatal test and a review of similar cases

Cited by 2 publications

References 33 publications

A decade of change – lessons learned from prenatal diagnostics in Central Denmark region in 2008–2018

A decade of change – lessons learned from prenatal diagnostics in Central Denmark region in 2008–2018

An 8q24 Gain in Pancreatic Juice Is a Candidate Biomarker for the Detection of Pancreatic Cancer

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