A placental trisomy 2 detected by NIPT evolved in a fetal small Supernumerary Marker Chromosome (sSMC)

Domaradzka, Justyna Anna; Deperas‐Kaminska, Marta; Obersztyn, Ewa; Kucińska‐Chahwan, Anna; Brison, Nathalie; Bogaert, Kris Van Den; Roszkowski, Tomasz; Kędzior, Marta; Bartnik‐Glaska, Magdalena; Łuszczek, Alicja; Jakubów-Durska, Krystyna; Vermeesch, Joris Robert; Nowakowska, Beata

doi:10.1186/s13039-021-00535-4

Cited by 3 publications

(2 citation statements)

References 26 publications

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“…It can not only identify common fetal trisomy (13, 18, 21, X, Y) but also diagnose rare chromosomal abnormalities (10,11). The NIPT results of all subjects in this study were low-risk, but the Z-value of case 3 was 10.846, indicating a slight increase in the probability of diagnosed fetal abnormalities.…”

Section: Discussionmentioning

confidence: 61%

Prenatal Genetic Detection and Clinical Characteristics of Fetuses with Mosaic Trisomy 2

Zhang,

Cong,

Cao

et al. 2024

Preprint

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Objective: To evaluate the clinical characteristics, pregnancy outcomes, and sensitivity of different prenatal diagnosis methods in four prenatal cases of mosaic trisomy 2. Methods: From November 2022 to March 2024, three fetuses and one aborted sample were detected with mosaic trisomy 2. Down syndrome serum screening, prenatal screening (NIPS), G-banding karyotype, and chromosomal microarray analysis (CMA) were performed for genetic screening and diagnosis. Results: Case 1 was a miscarriage tissue sample, CMA results indicated that it was a mosaic triomy 2 with 16% of trisomy cells. In three prenatal cases, Down syndrome serum screening results showed that case 2 was at low risk, while cases 3 and 4 were at high risk for triomy 21 (T21) and T18. NIPS was performed for case 2 and case 3 and the results showed that case 2 was low risk while case 3 was T2 high risk with a Z value of 10.846. Karyotype of cultured amniotic fluid cells showed negative results for all three prenatal cases, while CMA showed that they all had mosaic triomy 2, with a mosaic ratio of 35% to 43%. After genetic counseling, case 2 and case 4 were terminated , while case 3 continued to term. Conclusions: For prenatal chromosome 2 trisomy cases, there is a risk of underdiagnosis by karyotype alone, and the combined use of CMA will facilitate the detection of chromosome 2 trisomy.

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Section: Discussionmentioning

confidence: 61%

Prenatal Genetic Detection and Clinical Characteristics of Fetuses with Mosaic Trisomy 2

Zhang,

Cong,

Cao

et al. 2024

Preprint

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“…A special matter for discussion is the role of NIPT—a method increasingly adopted as a screening tool in recent years—in the prenatal detection of trisomy 2 and other rare aneuploidies. Current studies suggest that different kinds of NIPT can detect rare aneuploidies, monogenic diseases, submicroscopic deletions or duplications, as well as the most common trisomies [ 36 , 37 , 38 , 39 , 40 ]. These studies, along with our own experience presented in this case report, strongly suggest that NIPT is able to effectively detect a high risk of trisomy 2 in chorionic/placental cells.…”

Section: Discussionmentioning

confidence: 99%

Prenatal Detection of Trisomy 2: Considerations for Genetic Counseling and Testing

Talantova

Koltsova

Tikhonov

et al. 2023

Genes

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We report on the case of prenatal detection of trisomy 2 in placental biopsy and further algorithm of genetic counseling and testing. A 29-year-old woman with first-trimester biochemical markers refused chorionic villus sampling and preferred targeted non-invasive prenatal testing (NIPT), which showed low risk for aneuploidies 13, 18, 21, and X. A series of ultrasound examinations revealed increased chorion thickness at 13/14 weeks of gestation and fetal growth retardation, a hyperechoic bowel, challenging visualization of the kidneys, dolichocephaly, ventriculomegaly, increase in placental thickness, and pronounced oligohydramnios at 16/17 weeks of gestation. The patient was referred to our center for an invasive prenatal diagnosis. The patient’s blood and placenta were sampled for whole-genome sequencing-based NIPT and array comparative genomic hybridization (aCGH), respectively. Both investigations revealed trisomy 2. Further prenatal genetic testing in order to confirm trisomy 2 in amniocytes and/or fetal blood was highly questionable because oligohydramnios and fetal growth retardation made amniocentesis and cordocentesis technically unfeasible. The patient opted to terminate the pregnancy. Pathological examination of the fetus revealed internal hydrocephalus, atrophy of brain structure, and craniofacial dysmorphism. Conventional cytogenetic analysis and fluorescence in situ hybridization revealed chromosome 2 mosaicism with a prevalence of trisomic clone in the placenta (83.2% vs. 16.8%) and a low frequency of trisomy 2, which did not exceed 0.6% in fetal tissues, advocating for low-level true fetal mosaicism. To conclude, in pregnancies at risk of fetal chromosomal abnormalities that refuse invasive prenatal diagnosis, whole-genome sequencing-based NIPT, but not targeted NIPT, should be considered. In prenatal cases of trisomy 2, true mosaicism should be distinguished from placental-confined mosaicism using cytogenetic analysis of amniotic fluid cells or fetal blood cells. However, if material sampling is impossible due to oligohydramnios and/or fetal growth retardation, further decisions should be based on a series of high-resolution fetal ultrasound examinations. Genetic counseling for the risk of uniparental disomy in a fetus is also required.

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Low-level mosaic trisomy 2 at amniocentesis in a pregnancy associated with positive NIPT and CVS results for trisomy 2, maternal uniparental disomy 2, perinatal progressive decrease of the aneuploid cell line, cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes, intrauterine growth restriction and a favorable fetal outcome

Chen

Chern

et al. 2023

Taiwanese Journal of Obstetrics and Gynecology

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A placental trisomy 2 detected by NIPT evolved in a fetal small Supernumerary Marker Chromosome (sSMC)

Cited by 3 publications

References 26 publications

Prenatal Genetic Detection and Clinical Characteristics of Fetuses with Mosaic Trisomy 2

Prenatal Genetic Detection and Clinical Characteristics of Fetuses with Mosaic Trisomy 2

Prenatal Detection of Trisomy 2: Considerations for Genetic Counseling and Testing

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