Efficient direct chromosome analyses and enzyme determinations from chorionic villi samples in the first trimester of pregnancy

Simoni, Giuseppe; Brambati, B.; Danesino, Cesare; Rossella, F.; Terzoli, G. L.; Ferrari, Maurizio; Fraccaro, M.

doi:10.1007/bf00274761

Cited by 475 publications

(187 citation statements)

References 18 publications

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“…The trained embryologists dissected and selected the placental chorionic villi, which were cultured in BIO-AMP-2 complete medium (Biological Industries Ltd., Haemek, Israel) at 37°C in a 5% CO 2 incubator. All procedures, including cell harvesting, slide preparation, and staining, were conducted following standard protocols [20]. At least 20 GTG-banded metaphases were analyzed in each case.…”

Section: Methodsmentioning

confidence: 99%

Comparison of chromosomal abnormality rates in ICSI for non-male factor and spontaneous conception

Bingöl

Abıke

Gedikbaşı³

et al. 2011

J Assist Reprod Genet

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Objective To compare cytogenetic data of first-trimester missed abortions in intracytoplasmic sperm injection (ICSI) for non-male factor-mediated and spontaneous pregnancies. Methods Using karyotype analysis, we conducted a retrospective cohort trial of missed abortions following ICSI for non-male factor and spontaneous pregnancies. Patients experienced missed abortions during the first 12 weeks of pregnancy. Dilation and curettage procedure was performed followed by cytogenetic evaluations. Two patient groups were created: ICSI (n=71) and spontaneous pregnancies (n= 81). At least 20 GTG-banded metaphases were analyzed in each case for cytogenetic analyses. Statistical analyses were performed using NCSS 2007 Statistical Program software. The significance level and confidence interval for all analyses were set to p<0.05 and a 95% confidence interval, respectively. Results A total of 49.3% (75/152) of the miscarriages were cytogenetically abnormal among the patients. We detected cytogenetically abnormalities in 47.9% (34/71) of the ICSI group and 50.6% (41/81) of the control group, which were not statistically significant differences (p=NS). The sex chromosome abnormalities were similar between the ICSI and control groups (p=NS). The most prevalent abnormalStatement for authors submitting original research: The responsible authors at the institute where the work has been carried out have approved the enclosed manuscript "Comparison of Chromosomal Abnormality Rates in ICSI for Non-Male Factor and Spontaneous Conception". Authors certify that none of the materials in this manuscript has been published previously in any form and that none of this material is currently under consideration for publication elsewhere. All authors have participated sufficiently in the intellectual content, the analysis of data and the writing the manuscript to take public responsibility for it.Capsule The chromosomal anomalies and aneuploidy rates following ICSI for non-male factor were similar to those following natural conception. Assist Reprod Genet (2012) 29:25-30 DOI 10.1007 ities that were observed in the ICSI and control groups with first-trimester pregnancy loss were trisomy (n=42; 27.6%), Turner syndrome (45, X0, n=13; 8.6%), triploidy (n=13; 8.6%), 48 chromosomes (n=5; 3.3%), and mixed chromosomal abnormalities (n=3; 1.2%). In addition, the karyotypes were similar between the ICSI and control groups (p=NS). We observed increases in fetal aneuploidy rates with increased maternal age (<30 years=23.9% vs. 31-34 years=37.0% vs. 35-39 years=82.9% vs. >39 years= 90.9%). However, the observed increases in fetal aneuploidy rates were not statistically significant (p=NS). Conclusion The aneuploidy rates and sex chromosome anomalies following ICSI for non-male factor were similar to those following natural conception.

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Section: Methodsmentioning

confidence: 99%

Comparison of chromosomal abnormality rates in ICSI for non-male factor and spontaneous conception

Bingöl

Abıke

Gedikbaşı³

et al. 2011

J Assist Reprod Genet

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“…Chorionic villus sampling was performed transcervically between 10 and 13 weeks' gestation, and amniocentesis was performed transabdominally between 14 and 16 weeks. Amniotic fluid was processed using the 'in situ' method 16 and chorionic villi were processed by the semidirect method 17 . Postnatal follow up confirming normal outcome was obtained after delivery in our unit or by a telephone questionnaire.…”

Section: Methodsmentioning

confidence: 99%

The role of ductus venosus blood flow assessment in screening for chromosomal abnormalities at 10–16 weeks of gestation

Antolín

Comas

Torrents

et al. 2001

Ultrasound in Obstet & Gyne

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“…Whenever the material contained chorionic villi, both short (according to the technique described by Simoni et al, 1983) and long-term culture were set up. If the shortterm culture was successful the karyotype result was based on this analysis.…”

Section: Cytogenetic Analysismentioning

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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Efficient direct chromosome analyses and enzyme determinations from chorionic villi samples in the first trimester of pregnancy

Cited by 475 publications

References 18 publications

Comparison of chromosomal abnormality rates in ICSI for non-male factor and spontaneous conception

Comparison of chromosomal abnormality rates in ICSI for non-male factor and spontaneous conception

The role of ductus venosus blood flow assessment in screening for chromosomal abnormalities at 10–16 weeks of gestation

Array-CGH testing in spontaneous abortions with normal karyotypes

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