Mosaicism and accuracy of prenatal cytogenetic diagnoses after chorionic villus sampling and placental biopsies

Miny, Peter; Hammer, Paula Ec; Gerlach, B.; Tercanli, Sevgi; Horst, Jürgen; Holzgreve, Wolfgang; Eiben, B.

doi:10.1002/pd.1970110815

Cited by 54 publications

(28 citation statements)

References 18 publications

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“…This occurs in approximately 1% of CVS cases [Schreck et al, 1990;Miny et al, 1991;Ledbetter et al, 19921. Although there appears to be a consensus regarding the need for amniocentesis following abnormal CVS results, if the amniocenteses results are normal, the implications of CCM with regard to fetal well-being are less clear [Johnson et al, 1990;Wapner et al, 19921.…”

Section: Introductionmentioning

confidence: 99%

Origin of extraembryonic mesoderm in experimental animals: Relevance to chorionic mosaicism in humans

et al. 1993

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Confined chorionic mosaicism, a discordance in the karyotype between the fetus and placenta, occurs in 1% of chorionic villus sampling (CVS) cases. While the cytogenetic discrepancies occurring between different fetal tissues may pose clinical dilemmas, they can also be viewed as a natural experiment to determine early cell lineage relationships in the human. We reviewed extensive data in experimental animals to define the origin of the human extraembryonic mesoderm. The extraembryonic mesoderm in humans is an important component of the CVS culture preparation. Previously, the extraembryonic mesoderm was thought to originate in the cytotrophoblast or primitive streak. More recent evidence supports its origin from the yolk sac, which does not always correlate with the fetal karyotype. We formulated a model of early human cell lineage and employed it to clarify clinical cases of chorionic mosaicism in two large published studies.

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Section: Introductionmentioning

confidence: 99%

Origin of extraembryonic mesoderm in experimental animals: Relevance to chorionic mosaicism in humans

et al. 1993

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“…Several cases of false-negative diagnosis at CVS for trisomy 18 fetuses with a completely diploid cell line confined to the cytotrophoblast have been reported in the literature (Heim et al 1985;Martin et al 1986;Cartier et al 1988;Wirtz et al 1988;Binkert et al 1989;Schwinger et al 1989;Miny et al 1991;Teshima et al, 1992;Ledbetter et al 1992;L. G. Jackson, personal communication;D.…”

Section: Discussionmentioning

confidence: 92%

Detection of confined placental mosaicism in trisomy 18 conceptions using interphase cytogenetic analysis

et al. 1993

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Fluorescence in situ hybridization provides a rapid and accurate technique for detecting chromosomal aneuploidy. It is an excellent method for identifying mosaicism in placental tissues following prenatal diagnosis. Mosaicism, in the form of confined placental mosaicism, occurs im approximately 1%-2% of viable pregnancies studied by chorionic villus sampling at 9-11 weeks of gestation. It has been detected in pregnancies with both diploid and trisomic fetuses and appears to have an important effect on the intrauterine fetal survival. Using both standard cytogenetic analysis and fluorescence in situ hybridization, we have studied 12 placentas from pregnancies with trisomy 18 for the presence of chromosomal mosaicism. These included 2 that were spontaneously aborted, 5 that were terminated after prenatal diagnosis, and 4 that were delivered as either stillborn or liveborn. Significant levels of mosaicism, confined exclusively to cytotrophoblast, were detected in 7 pregnancies. This study demonstrates the usefulness of interphase cytogenetic analysis of uncultured tissues as an alternative method for the detection of mosaicism.

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“…Moreover, tetraploid cells may be seen in STC villi under normal conditions representing confined placental mosaicism [20][21][22][23][24][25][26][27][28]. In our study, the tetraploidy cell scores in STC and LTC villi fitted a Poisson and log-Gaussian distribution, respectively.…”

Section: Discussionmentioning

confidence: 98%

Prevalence of Tetraploid Metaphases in Semidirect and Cultured Chorionic Villi

Noomen¹,

Berg²,

Ruyter³

et al. 2001

Fetal Diagn Ther

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Objective: Investigation of the normal frequency of tetraploid metaphases in semidirect (STC) and cultured (LTC) chorionic villi. Methods: Fifty metaphases in STC- and in LTC-villi slides of 100 women of advanced maternal age were screened for tetraploidy. Results: Up to three tetraploid metaphases were encountered in 27% of the STC-villi preparations; the scores fitted a Poisson distribution. In all LTC-villi preparations tetraploid cells were seen; the scores fitted a log-Gaussian distribution. Conclusions: On the basis of these distributions, we propose a protocol for the management of tetraploid metaphases in chorionic villi, strongly reducing the number of prenatal follow-up investigations.

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Mosaicism and accuracy of prenatal cytogenetic diagnoses after chorionic villus sampling and placental biopsies

Cited by 54 publications

References 18 publications

Origin of extraembryonic mesoderm in experimental animals: Relevance to chorionic mosaicism in humans

Origin of extraembryonic mesoderm in experimental animals: Relevance to chorionic mosaicism in humans

Detection of confined placental mosaicism in trisomy 18 conceptions using interphase cytogenetic analysis

Prevalence of Tetraploid Metaphases in Semidirect and Cultured Chorionic Villi

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