Cytogenetic diagnosis of “normal 46,XX” karyotypes in spontaneous abortions frequently may be misleading

Bell, Karen A.; Deerlin, Peter G. Van; Haddad, Bassem R.; Feinberg, Ronald F.

doi:10.1016/s0015-0282(98)00445-2

Cited by 112 publications

(94 citation statements)

References 8 publications

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“…Nevertheless, even after discounting these samples, the female abortus rate was slightly higher [6]. Another study analyzed X and Y chromosomes in maternal and villous DNA extracted from microdissected, formalin-fixed, and paraffin-embedded archival tissues, using polymerase chain reaction assays and confirming by fluorescence in situ hybridization [16]. They also found inaccuracies in cytogenetic analysis of early miscarriages, most likely due to maternal cell contamination.…”

Section: Discussionmentioning

confidence: 99%

Chromosome distribution of early miscarriages with present or absent embryos: female predominance

Cheng

Tsai

et al. 2014

J Assist Reprod Genet

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Purpose The objective of this study is to compare the chromosomal distribution of early miscarriages with or without embryonic poles. Materials and methods It was a retrospective study of 223 women who underwent dilation and curettage (D&C) between 1995 and 2013 for early miscarriages. The presence or absence of a fetal pole was evaluated by abdominal or transvaginal ultrasound. Cytogenetic tests of products of conception following culture were determined in both groups. Results Of the 223 early miscarriages, 143 had embryos and 80 did not. The abnormality rate differed significantly (61.5 % vs. 46.3 %, p<0.05), with trisomy 18, 21 and 45X found only in miscarriages with embryos. There were no significant differences between groups in rates of triploidy, tetraploidy, mosaicism, structure and double abnormality. The female abortus rate was higher in miscarriages with or without embryonic poles, as well as in groups with normal and abnormal karyotypes.Conclusions Chromosome distribution differs in miscarriages with or without embryonic poles. The ultrasound findings might offer different direction to determine the causes of early miscarriages. The higher female abortus rate may be associated with early selection.

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Section: Discussionmentioning

confidence: 99%

Chromosome distribution of early miscarriages with present or absent embryos: female predominance

Cheng

Tsai

et al. 2014

J Assist Reprod Genet

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“…The rate of incorrect karyotype assessment by maternal cell contamination has been suggested to be as high as 29 ± 58% in conventional analysis. 24 Similarities in distribution of anomalies could, therefore, be due to the fact that both collectives studied overlap and that successfully karyotyped`critical cases' tend to be chromosomally abnormal.…”

Section: Discussionmentioning

confidence: 99%

“…The excess of females observed in spontaneous abortions may be due to karyotyping of maternal cells giving rise to an underestimation of the true incidence of aneuploidy in spontaneous abortions. 24,36,37 Interestingly, CGH evidenced an altered male : female sex ratio of 1 : 1.3 (0.77). In CGH, it is methodically unlikely for this altered sex ratio to be due to maternal cell contamination.…”

Section: European Journal Of Human Geneticsmentioning

confidence: 99%

Cytogenetic analyses of culture failures by comparative genomic hybridisation (CGH)–Re-evaluation of chromosome aberration rates in early spontaneous abortions

et al. 2001

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Comparative genomic hybridisation (CGH) represents an alternative molecular-cytogenetic technique capable of detecting chromosomal imbalances by reverse fluorescence in situ hybridisation. As the technique uses genomic DNA for assessment it does not rely on metaphase chromosomes in the test material and thus circumvents technical problems associated with tissue culturing. In the present study, we applied CGH to identify chromosome anomalies in 60 spontaneous abortions of the first trimester, that had failed to grow in culture. In 57 out of 60 cases CGH analyses were successful. The overall aneuploidy rate detected was 72%. Trisomy was the predominant chromosome anomaly accounting for 68.0% of abnormal abortions, followed by triploidy (17.1%) and monosomy X (9.8%). An unbalanced structural rearrangement was found in one (2.4%) abortion. Most frequently involved in trisomies were chromosomes 16 (32.1%), 7 and 22 (10.7% each), 4, 13, 15, and 21 (7.2 % each). Three triploid cases and one complete mole were detected by microsatellite analysis as supplementary method. CGH data on culture failures were compared with data derived from 4693 successfully karyotyped first trimester spontaneous abortions, resulting in a chromosome aberration rate of 64.8%. The distribution of the different chromosome anomalies was similar with the exception of a higher rate of trisomies 7 and of XYY-triploidies in the culture failures. Based on our data we suggest that the genetic contribution to pregnancy loss is still underestimated. Investigating abortion tissues hitherto unassessed by conventional methods, we suggest that the contribution of chromosome aberrations to first trimester pregnancy loss is nearly 70%.

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“…Long-term cultures generally contain cells both of the fetus and the maternal decidua, and frequently the latter presents preferential growth. Thus, in addition to being a time-consuming test, karyotyping does not always lead to a result; furthermore, in about 4.4% to 29% of cases the result does not correspond to the actual fetal karyotype, mainly due to maternal cell contamination as shown by other techniques such as fluorescence in situ hybridization (FISH) and others (Bell et al, 1999;Lomax et al, 2000;Diego-Alvarez et al, 2005;Karaoguz et al, 2005;Nikitina et al, 2005) DNA-based technologies do not require dividing cells thus, overcoming one of the main limitations associated with conventional cytogenetic analysis of spontaneous abortion material. Several of these methods have been used as diagnostic tools, including fluorescent polymerase chain reaction (Diego-Alvarez et al, 2005), interphase-FISH (Horiuchi et al, 1997;Lebedev et al, 2004, Vorsanova et al, 2005, chromosome-CGH (Daniely et al, 1998, Fritz et al, 2001, and multiplex ligation probe amplification (MLPA) (Diego-Alvarez et al, 2006).…”

Section: Introductionmentioning

confidence: 99%

Array-CGH testing in spontaneous abortions with normal karyotypes

Borovik

Pérez²,

Silva

et al. 2008

Genet. Mol. Biol.

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In about 50% of first trimester spontaneous abortion the cause remains undetermined after standard cytogenetic investigation. We evaluated the usefulness of array-CGH in diagnosing chromosome abnormalities in products of conception from first trimester spontaneous abortions. Cell culture was carried out in short-and long-term cultures of 54 specimens and cytogenetic analysis was successful in 49 of them. Cytogenetic abnormalities (numerical and structural) were detected in 22 (44.89%) specimens. Subsequent, array-CGH based on large insert clones spaced at 1 Mb intervals over the whole genome was used in 17 cases with normal G-banding karyotype. This revealed chromosome aneuplodies in three additional cases, giving a final total of 51% cases in which an abnormal karyotype was detected. In keeping with other recently published works, this study shows that array-CGH detects abnormalities in a further~10% of spontaneous abortion specimens considered to be normal using standard cytogenetic methods. As such, array-CGH technique may present a suitable complementary test to cytogenetic analysis in cases with a normal karyotype.

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Cytogenetic diagnosis of “normal 46,XX” karyotypes in spontaneous abortions frequently may be misleading

Cited by 112 publications

References 8 publications

Chromosome distribution of early miscarriages with present or absent embryos: female predominance

Chromosome distribution of early miscarriages with present or absent embryos: female predominance

Cytogenetic analyses of culture failures by comparative genomic hybridisation (CGH)–Re-evaluation of chromosome aberration rates in early spontaneous abortions

Array-CGH testing in spontaneous abortions with normal karyotypes

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