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Discrepancies in cytogenetic findings in chorionic villi.

We present a database and a review of published literature on discrepancies in chorionic villus (CV) diagnostic findings. The review includes 457 cases of discrepancies between CV findings (direct, culture, or both) and the fetus. One hundred and one cases reported normal by CV direct harvest included 30 with abnormal or mosaic abnormal fetal karyotype (30% false negatives). The corresponding number of false negatives for CV culture was only 4 cases out of 133 (3%). Assuming no bias in reporting cases based on site of discrepancy (assumption may not hold), these data imply that the probability of false-negative findings is 10-fold higher by CV direct method compared to CV culture method. We also reviewed recent studies reporting on large series of CV diagnosis. This review revealed that the reported overall frequencies of discrepancies as a percentage of abnormal and mosaic abnormal CV results ranged from 11 to 63% (a mean of 37%). These data, together with recent reports of survival of embryos with reported abnormal karyotypes because of confined placental mosaicism (CPM), raise several questions pertaining to the predictive value of CV sampling and the origin of the discrepancies in the fetal-placental unit. Caution is recommended in counseling patients undergoing CV sampling to provide appropriate follow-up studies in cases of possible discrepancies.

Chorionic Villi Sampling↗
PubMed1995

Retrospective study of trisomy 18 in chorionic villi with fluorescent in situ hybridization on archival direct preparations.

Trisomy 18 in direct chorionic villus preparations needs further investigation since the chromosome abnormality may be confined to the placenta and may not represent the actual fetal karyotype. We performed, retrospectively, fluorescent in situ hybridization (FISH) with the chromosome 18 centromere probe (L1.84) on interphase nuclei of destained slides of all cases of full trisomy 18 (n = 22) and mosaic trisomy 18 (n = 8) detected among 7600 first-trimester chorionic villus samples during an 8-year period (1985-1992). More nuclei displaying three signals were encountered in cases of full and mosaic trisomy 18 confirmed in fetal tissue than in non-confirmed cases. FISH can be useful for the verification of trisomy 18 in direct chorionic villus preparations.

Chorionic Villi Sampling↗
PubMed1984

[Biopsy of chorionic villi by forceps under ultrasonic control: technic and results].

We describe an original technique for villi sampling using a rigid forceps under ultrasound control. 120 chorion biopsies were performed, the success rate of sampling is 100%, the samples are pure without any maternal contamination in 90% of cases. The fetal loss rate needs further evaluation because the number of continuing pregnancies is still too small to allow enough accurate assessment. No miscarriage was observed among our last 70 patients. At the beginning of our experience we preferred to start our diagnoses only for high genetic risk diseases: haemoglobinopathies, hereditary metabolic diseases, lethal X-linked diseases. We insist on the efficiency and the quickness of this method and on the quality of the samples which makes the diagnosis safer.

Biopsy↗