Mosaic and hypermodal cells in amniotic fluid cell cultures

King, Charles R.; Magenis, Ellen; Prescott, Gerald H.; Olson, C. J.; Bennett, Susan E.

doi:10.1016/0002-9378(80)90866-2

Cited by 6 publications

(8 citation statements)

References 6 publications

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“…Variations in incidence figures of mosaicism are apparent when comparing our results with other recent reports (Table 2). Although our incidence of pseudomosaicism (1.1 per cent) compares closely with the study by Rudd et al (1977) (1-4 per cent), a relatively wide range is observed when compared with King et al (1980) andPeakman et al (1979) (0.7 per cent-2.7 per cent). These variations may be explained by differences in sample size, culture technique, slide preparation, or metaphases chosen for analysis.…”

Section: Discussionsupporting

confidence: 86%

“…We have observed a higher incidence of true mosaicism (0.8 per cent) in comparison with other recent studies (Rudd et al, 1977;Peakman et al, 1979;King et al, 1980), all of which indicate a frequency of 0.2 per cent. Our amniocentesis and newborn incidence of true mosaicism remains the same even though it was discovered that two errors were made in the initial diagnosis (cases 4 and 5).…”

Section: Discussioncontrasting

confidence: 60%

“…In each instance, the aberration was proved to be pseudomosaicism of chromosome 2. These cases of trisomy 2 in vitro were not examples of random gain or loss but rather a true artifact of culture as has been previously reported (Peakman et al, 1979;King et al, 1980). Explanation for this non-random event is not clear.…”

Section: Discussionmentioning

confidence: 50%

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Prenatal detection of chromosomal mosaicism

1982

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A significant problem associated with cytogenetic prenatal diagnosis is distinguishing between true and pseudomosaicism. This becomes a diagnostic dilemma when fetal mosaicism corresponds with a known clinical entity. True mosaicism reportedly occurs with a frequency of 0.2 per cent and pseudomosaicism in 0.7 per cent to 2.7 per cent of cases. In the past 12 months, our laboratory has completed 522 fetal karyotypes. Nine cases were found to demonstrate mosaicism, 4 true mosaics (0.8 per cent) and 6 pseudomosaics (1.1 per cent). One case demonstrated both true and pseudomosaicism. In all cases of true mosaicism, the pregnancy was continued and karyotypes completed at birth. Our results demonstrate a danger of' rigid adherence to the criteria for true and pseudomosaicism in the examination of amniotic fluids. It is suggested that the criteria established for true and pseudomosaicism may not be valid when an aberrant cell line is found in a single flask and when that aberrant cell line is compatible with a known clinical entity due to a chromosome anomaly.

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Section: Discussionsupporting

confidence: 86%

Section: Discussioncontrasting

confidence: 60%

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Prenatal detection of chromosomal mosaicism

1982

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“…This difference could be attributed to the utilization of different criteria. King et al (1980) reported 3.5 per cent hypermodal cells, characterized by additional structurally normal chromosomes as well as marker chromosomes, in a series of 975 consecutive amniotic fluid samples studied for prenatal diagnosis. Simpson ef al.…”

Section: Discussionmentioning

confidence: 99%

“…With the rapidly increasing use of amniocentesis for prenatal diagnosis, it has become apparent that accurate interpretation of the cytogenetic observations is most important. Hypermodality in diagnostic amniotic fluid cultures has received attention since the presence of hypermodal cells may cause difficulty in diagnosis and sometimes may be mistakenly identified as evidence of mosaicism (King et al, 1980;Simpson et al, 1982). To evaluate the frequency and clinical significance of hypermodal cells in amniotic fluid cultures, 2029 cultures processed in our laboratory from 1 January 1978 through 30 April 1982 were reviewed and reassessed.…”

Section: Introductionmentioning

confidence: 99%

Mosaicism or pseudomosaicism: The problem of hypermodal cells in amniotic fluid cell culture

Zhang

Garver²,

Marchese³

et al. 1984

Prenatal Diagnosis

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A series of 2029 consecutive amniotic fluid specimens studied for prenatal genetic diagnosis were reviewed and reassessed so as to evaluate the frequency and clinical significance of hypermodal cells in amniotic fluid cell cultures. Hypermodal cells were defined as those with more than 46 chromosomes, and were characterized by an additional structurally normal or structurally abnormal chromosome. Of 2029 specimens, 47 (2.31 per cent) contained a total of 167 hypermodal cells. True fetal mosaicism was detected in three cases (0.14 per cent). All had hypermodal cells in more than one culture flask or colony which contained the same aberrant chromosome complement. In all but one case the babies were normal when only one cell was hypermodal, or when several cells were hypermodal but present in only one colony or one culture vessel. One case had an extra No. 20 chromosome in one cell. Although the child had multiple anomalies, they were not characteristic of trisomy 20, and subsequent chromosomal study on the baby postnatally revealed a 46,XX karyotype. The in situ coverslip technique is recommended as the preferred method for prenatal diagnosis, and it is useful as an aid in differentiating true mosaicism from pseudomosaicism.

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Five cases of prenatally diagnosed sex chromosome mosaicism

et al. 1985

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Prenatal detection of chromosome mosaicism is a relatively rare phenomenon and always constitutes a diagnostic problem. The difficulties are much more when the mosaics involve the sex chromosomes, because of the large phenotypic variability in individuals with these abnormalities. We studied 5 cases of true mosaics, 4 of these were prenatally detected, while 1 case was revealed only in the fetal lymphocytes after induced abortion. The limits of amniotic fluid culture with regard to the diagnosis of true mosaics and the difficulties arising in genetic counselling are discussed.

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Mosaic and hypermodal cells in amniotic fluid cell cultures

Cited by 6 publications

References 6 publications

Prenatal detection of chromosomal mosaicism

Prenatal detection of chromosomal mosaicism

Mosaicism or pseudomosaicism: The problem of hypermodal cells in amniotic fluid cell culture

Five cases of prenatally diagnosed sex chromosome mosaicism

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