A mathematical model for evaluation of maternal cell contamination in cultured cells from spontaneous abortions: Significance for cytogenetic analysis of prenatal selection factors

Nikitina, Tatiana; Lebedev, I. N.; Суханова, Н. Н.; Саженова, Е. А.; Nazarenko, S. A.

doi:10.1016/j.fertnstert.2004.12.009

Cited by 13 publications

(6 citation statements)

References 27 publications

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“…The results of cytogenetic investigations of products of conception may be affected by maternal contamination and cell culture artefacts [12][13][14] ; therefore, an accurate comparative analysis is possible only by comparing RPL and SA in the same study. Currently, only six published reports meet these conditions.…”

Section: Introductionmentioning

confidence: 99%

Comparative Cytogenetic Analysis of Spontaneous Abortions in Recurrent and Sporadic Pregnancy Losses

et al. 2016

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Background: The majority of miscarriages are sporadic; however, 1-5% of couples experience recurrent pregnancy loss (RPL). Approximately 50-60% of miscarriages result from chromosomal abnormalities. Currently, there are conflicting reports regarding the rates of chromosomal abnormalities between recurrent and sporadic pregnancy losses. Methods: A retrospective comparative cytogenetic analysis of 442 RPL and 466 sporadic abortions (SA) was performed. Maternal age and medical background were evaluated, and chromosomal abnormality rates were compared between groups. Results: The frequency of embryos with abnormal karyotypes was significantly higher in SA compared to RPL (56.7 and 46.6%, respectively), and abortions from women under 30 years of age were the main contributor to this difference. An age-dependent increase in the abnormal karyotype rate was observed in two groups of women - those with SA [53.0 and 70.1% for younger and older (≥35-year-old) mothers, respectively] and those with idiopathic RPL without any concomitant reproductive pathology (46.5 and 78.4% for younger and older mothers) - but not in the group of women with RPL associated with concomitant reproductive pathology. The incidence of recurrent abnormal karyotypes in subsequent miscarriages was significantly higher than random probability (odds ratio = 22.75). Conclusion: Our findings highlight the variability in the risk of aneuploidy in recurrent abortion.

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Section: Introductionmentioning

confidence: 99%

Comparative Cytogenetic Analysis of Spontaneous Abortions in Recurrent and Sporadic Pregnancy Losses

et al. 2016

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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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“…Other reasons for a lower incidence of chromosomal anomalies in first trimester abortions relates to unrecognized maternal contamination. The issue of maternal contamination in cultured cell lines is not new in obstetrics and gynecology and has been reported following cytogenetic analysis of spontaneous abortion specimens [4,9,11,12] and amniotic fluid samples [13,14] . Although techniques such as comparative genomic hybridization in combination with flow cytometry analysis [7] and quantitative fluorescent polymerase chain reaction (QF-PCR) are powerful methods for eliminating cell lines that have been misidentified by cross-contamination [14][15][16] , they are not available for routine clinical use at the present time.…”

Section: Discussionmentioning

confidence: 99%

The Role of Hysteroscopic Biopsy in Obtaining Specimens for Cytogenetic Evaluation in Missed Abortion prior to Suction Dilatation and Curettage

Awonuga

Jelsema

Abdallah

et al. 2010

Gynecol Obstet Invest

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Aim:To estimate whether hysteroscopic-guided biopsy of gestational sac(s) in first trimester missed abortion increases the sensitivity of detecting aneuploidy compared to washing and careful specimen collection after suction dilatation and curettage (D&C). Materials and Methods:Thirty-five patients with first trimester missed abortion of which 25 underwent 29 suction D&Cs and 10 underwent hysteroscopic-guided biopsy of 12 gestational sacs prior to suction D&C. The karyotype of products of conception specimens were analyzed by G-banding techniques. Results:The percentage of specimens with 46,XX, 46,XY and aneuploidy were not significantly different in the hysteroscopic group [4/12 (33.3%), 3/12 (25.0%) and 5/12 (41.7%)] compared with the D&C group [8/29 (27.6%), 5/29 (17.2%) and 16/29 (55.2%)]. Although parity differed significantly between groups, it did not hold in a multivariable logistic regression model built to estimate whether the parity, gestational age and specimen collection method predict the likelihood of detecting a 46,XX chromosomal complement. Conclusions:Direct hysteroscopic-guided biopsies of gestational sac(s) do not increase the sensitivity of conventional cytogenetics for detecting aneuploidy when compared to specimens obtained by washing and microscopic identification of villi or fetal tissue after suction D&C.

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A mathematical model for evaluation of maternal cell contamination in cultured cells from spontaneous abortions: Significance for cytogenetic analysis of prenatal selection factors

Cited by 13 publications

References 27 publications

Comparative Cytogenetic Analysis of Spontaneous Abortions in Recurrent and Sporadic Pregnancy Losses

Comparative Cytogenetic Analysis of Spontaneous Abortions in Recurrent and Sporadic Pregnancy Losses

Array-CGH testing in spontaneous abortions with normal karyotypes

The Role of Hysteroscopic Biopsy in Obtaining Specimens for Cytogenetic Evaluation in Missed Abortion prior to Suction Dilatation and Curettage

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