Difficulties in prenatal detection of mosaic trisomy 8

Hanna, Julie Sanford; Neu, Richard L.

doi:10.1002/pd.1970151222

Cited by 17 publications

(8 citation statements)

References 2 publications

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“…This has also been suggested previously in the case of T8M. 37,38 However, cordocentesis has become almost a lost skill in Denmark due to the relatively high risk of procedure-induced fetal loss, [39][40][41] although a recent paper reports a risk of fetal loss <1% in practiced hands. 42 Potentially, cordocentesis is a procedure to be considered in cases of T8M in the CVS, if there are no malformations detected, but where the couple wish for a very low residual risk.…”

Section: Discussionsupporting

confidence: 60%

“…Similar findings have previously been published. 10,[24][25][26][27]37,38,46,47 In the published literature (both the cases presented in Table 1 and in Tables S1 and S2) [68][69][70][71][72][73][74][75][76][77][78][79][80] , 80 cases included reports of the phenotypic outcome. However, many of the cases were not followed up postnatally in terms of growth and neurologic development.…”

Section: Discussionmentioning

confidence: 99%

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Trisomy 8 mosaicism in the placenta: A Danish cohort study of 37 cases and a literature review

et al. 2020

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Objective: To evaluate the risk of fetal involvement when trisomy 8 mosaicism (T8M) is detected in chorionic villus samples (CVS). Methods: A retrospective descriptive study of registered pregnancies in Denmark with T8M in CVS identified through a database search and a review of published cases of T8M found through a systematic literature search and inclusion of cross references. Pregnancies with T8M in CVS and no additional numerical chromosomal aberrations were included. Results: A total of 37 Danish cases and 60 published cases were included. T8M detected in a CVS was associated with fetal involvement in 18 out of 97 pregnancies (18.6% [95%CI: 11.4-27.7]). Eight out of 70 (11.4% [95%CI: 5.1-21.3]) interpreted prenatally to be confined placental mosaicism (CPM) were subsequently found to be true fetal mosaicisms (TFM). Conclusion: T8M detected in CVS poses a significant risk of fetal involvement, and examination of amniotic fluid (AF) and/or fetal tissue should be offered. However, a normal result of AF still has a considerable residual risk of fetal involvement. Genetic counselling at an early gestational age is essential, and follow-up ultrasonography should be performed to predict fetal involvement if possible.

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Section: Discussionsupporting

confidence: 60%

Section: Discussionmentioning

confidence: 99%

Trisomy 8 mosaicism in the placenta: A Danish cohort study of 37 cases and a literature review

et al. 2020

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“…One of these children had trisomy 8 mosaicism on CVS culture but a normal karyotype, not only on direct CVS preparation, but also on amniocentesis. Although the phenotype associated with very lowlevel trisomy 8 mosaicism is not always predictable and may be normal (Camurri and Chiesi, 1991;Klein et al, 1994), three other children with multiple malformations and trisomy 8 mosaicism in blood after false-negative amniocentesis have been reported in the literature (Schneider et al, 1994;Hanna et al, 1995). Based on this, it is advisable in pregnancies with CVS mosaicism involving trisomy 8 to perform careful ultrasound examination in order to evaluate possible fetal malformations.…”

Section: Cytogenetic Follow-up After Cvs Mosaicism and Non-mosaic Dismentioning

confidence: 99%

Accuracy of cytogenetic findings on Chorionic Villus Sampling (CVS)—diagnostic consequences of CVS Mosaicism and non-Mosaic Discrepancy in Centres contributing to EUCROMIC 1986–1992

1997

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Of 62 865 karyotyped chorionic villus (CV) samples that were reported to EUCROMIC 1986–1992, 98.5 per cent showed either a normal karyotype (true negative result; 94.8 per cent of the total) or a non‐mosaic chromosomal aberration (true positive non‐mosaic result; 3.7 per cent). True fetal mosaicism was diagnosed in about 0.15 per cent of the 62 865 CV samples, while confined placental mosaicism (CPM) occurred in 1.0 per cent. False‐positive non‐mosaic aberrations were observed in 0.15 per cent and false‐negative CVS (chorionic villus sampling) results in only 0.03 per cent. The remaining 0.15 per cent of the CVS results were unclassifiable. These figures determined a sensitivity of CVS for prenatal detection of chromosome aberrations of 98.9–99.6 per cent (95 per cent confidence intervals), a specificity of 98.5–98.8 per cent, a positive predictive value of 72.6–78.3 per cent, and a negative predictive value of 99.95–99.98 per cent. False‐positive non‐mosaic aberrations that could not from the outset be suspected of being confined to the placenta were very rare (0.07 per cent of CV samples). They most often involved non‐mosaic monosomy X and trisomy 18 encountered after direct preparation alone. False‐negative CVS results were extremely rare (0.03 per cent) and occurred, with only one exception, after direct preparation alone. Thirteen of the 19 false‐negative CVS diagnoses were from pregnancies at a particularly high risk for fetal chromosomal aberration. Seventy‐five per cent of the pregnancies with CVS mosaicism or non‐mosaic discrepancy and known outcome continued to livebirth. When CVS mosaicism was encountered, the definitive prenatal cytogenetic diagnosis was most often obtained through subsequent amniocentesis. However, the use of amniocentesis and the frequency of pregnancy termination depended on the type of chromosomal aberration involved. We conclude that CVS is an accurate method for prenatal chromosome analysis. In pregnancies at high risk for fetal chromosomal abnormality, we recommend, however, not relying solely on a normal karyotype obtained after direct preparation alone. © 1997 John Wiley & Sons, Ltd.

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“…Swisshelm et al (1981); 2,Camurri et al (1988 and1991); 3,Klein et al (1994); 4,Schneider et al (1994); 5,Guichet et al (1995); 6,Hanna et al (1995); 7, Miller et al (1997); 8, Webb et al (1998); and 9, Present patient.…”

mentioning

confidence: 97%