Cytogenetic analysis of 2928 CVS samples and 1075 amniocenteses from randomized studies

Smidt‐Jensen, Steen; Lind, Anne-Marie; Permin, M.; Zachary, Julia; Lundsteen, Claes; Philip, John

doi:10.1002/pd.1970130807

Cited by 43 publications

(25 citation statements)

References 41 publications

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“…Nevertheless, follow-up amniocentesis should be recommended in level III mosaic findings in CVS, irrespective of their percentage in the analysis. In our sample, MCC was found to be much lower (0.5%) than reported in other studies, 3,[20][21][22] and the low rate of MCC was independent of the procedure, TA vs. TC. We believe that the laboratory procedure for cleaning the villi is an important factor in low MCC rather than the type of sampling technique, as is suggested in other reports.…”

Section: Discussioncontrasting

confidence: 53%

Cytogenetic Evaluation of 1000 Cases of Chorionic Villus Sampling

Ma¹,

Gf²,

Trabin³

et al. 1998

Ann Saudi Med

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Background: Chorionic villus sampling (CVS) is used routinely as a first trimester diagnostic procedure for fetal karyotyping in at-risk pregnancies. The success of the procedure is dependent on the experience of the operator performing it. The objective of this study was to determine the relationship between an operator-controlled clinical and laboratory setting and the safety and reliability of CVS service. Patients and Methods: One thousand patients had a CVS procedure for a variety of indications, such as advanced maternal age, previous child with chromosome abnormality, etc. Both transcervical and transabdominal procedures were performed, according to placental location and uterine environment. For cytogenetic diagnosis, direct and short-term cultures were set up according to standard laboratory protocol. Result: Cytogenetic results were obtained in 99.6% of studies with 94.5% normal (46, XX or 46, XY), with the remaining having a variety of numerical and structural chromosomal abnormalities. Maternal cell contamination was found in 2% of the first 262 cases, while the overall rate observed in the 1000 samples was 0.5%. Level II mosaicism was observed in 0.8% and level III mosaicism observed in 0.9% of cases, respectively. The overall rate of pregnancy loss of chromosomally normal pregnancies within 28 weeks of gestation was 2.8%. No limb reduction defects were seen in any infant post-CVS. Conclusion: Our record demonstrates that experienced operators can deliver a safe and reliable CVS service.

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Section: Discussioncontrasting

confidence: 53%

Cytogenetic Evaluation of 1000 Cases of Chorionic Villus Sampling

Ma¹,

Gf²,

Trabin³

et al. 1998

Ann Saudi Med

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“…Lack of chromosome analysis after spontaneous and induced abortion results in (a) unclassifiable cases which make interpretation of compiled data less clear and (b) a potential underestimation of the number of false-negative diagnoses if normal CVS results are not followed up by chromosomal analysis of the fetus and (c) a potential underestimation of the number of falsepositive diagnoses if abnormal CVS results are not followed by chromosome analysis of the aborted fetus. However, it has been shown on earlier CVS studies that the vast majority of non-mosaic abnormalities diagnosed on CVS can be confirmed in the aborted fetus (Mikkelsen and Aymé, 1987;Ledbetter et al, 1992;Smidt-Jensen et al, 1993). In our study, the 2321 non-ambiguous, nonmosaic chromosome abnormalities found in the 62 865 CV samples (3·7 per cent) included abnormalities that were either confirmed in the aborted fetus or apparently present, based on clinical evidence.…”

Section: Problems In the Classification Of Resultsmentioning

confidence: 68%

Accuracy of cytogenetic findings on Chorionic Villus Sampling (CVS)—diagnostic consequences of CVS Mosaicism and non-Mosaic Discrepancy in Centres contributing to EUCROMIC 1986–1992

1997

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Of 62 865 karyotyped chorionic villus (CV) samples that were reported to EUCROMIC 1986–1992, 98.5 per cent showed either a normal karyotype (true negative result; 94.8 per cent of the total) or a non‐mosaic chromosomal aberration (true positive non‐mosaic result; 3.7 per cent). True fetal mosaicism was diagnosed in about 0.15 per cent of the 62 865 CV samples, while confined placental mosaicism (CPM) occurred in 1.0 per cent. False‐positive non‐mosaic aberrations were observed in 0.15 per cent and false‐negative CVS (chorionic villus sampling) results in only 0.03 per cent. The remaining 0.15 per cent of the CVS results were unclassifiable. These figures determined a sensitivity of CVS for prenatal detection of chromosome aberrations of 98.9–99.6 per cent (95 per cent confidence intervals), a specificity of 98.5–98.8 per cent, a positive predictive value of 72.6–78.3 per cent, and a negative predictive value of 99.95–99.98 per cent. False‐positive non‐mosaic aberrations that could not from the outset be suspected of being confined to the placenta were very rare (0.07 per cent of CV samples). They most often involved non‐mosaic monosomy X and trisomy 18 encountered after direct preparation alone. False‐negative CVS results were extremely rare (0.03 per cent) and occurred, with only one exception, after direct preparation alone. Thirteen of the 19 false‐negative CVS diagnoses were from pregnancies at a particularly high risk for fetal chromosomal aberration. Seventy‐five per cent of the pregnancies with CVS mosaicism or non‐mosaic discrepancy and known outcome continued to livebirth. When CVS mosaicism was encountered, the definitive prenatal cytogenetic diagnosis was most often obtained through subsequent amniocentesis. However, the use of amniocentesis and the frequency of pregnancy termination depended on the type of chromosomal aberration involved. We conclude that CVS is an accurate method for prenatal chromosome analysis. In pregnancies at high risk for fetal chromosomal abnormality, we recommend, however, not relying solely on a normal karyotype obtained after direct preparation alone. © 1997 John Wiley & Sons, Ltd.

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“…In the UK study (Association of Clinical Cytogeneticists Working Party on Chorionic Villi in Prenatal Diagnosis, 1994) 0.5% MCC and in the US study (Ledbetter et al, 1992) 2.16% MCC at transcervical sampling was found. Only Smidt-Jensen et al (1993) found a higher percentage of MCC, namely 4.2%. The reason for the high percentage in the present study could be that all male karyotypes were carefully screened for XX cells.…”

Section: Discussionmentioning

confidence: 99%