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PubMed1985

Monitoring of pregnancies at risk for Fanconi's anemia by chorionic villi sampling.

Two pregnancies at risk for Fanconi's anemia have been monitored by a cytogenetic method in the first trimester of gestation. The rate of chromosome breakage was evaluated in spontaneous mitoses from a direct preparation of trophoblasts in one case and from mitoses obtained from standard cultures and from mitoses treated with diepoxybutane in both cases. Cytogenetic studies were carried out also at 16 weeks from amniotic fluid cells in one case, and in fibroblasts sampled from the aborted fetus in the other. In all the experimental conditions the mean frequency of breaks/cell was in the range of controls, suggesting that the fetuses were unaffected by Fanconi's anemia. In one case the results have been confirmed by chromosome analysis at birth.

Adult↗
PubMed1987

Chorionic villi sampling with an echogenic catheter: experiences of the first 500 cases.

Using a newly developed CVS catheter with enhanced echogenicity we performed CVS in 501 consecutive cases. The abortion rate of 4.3% prior to 28 weeks of gestation in this series is within the background rate of controls matched for maternal age. The loss rate was clearly correlated to the number of insertions, time of sampling and sampling success. CVS is safest between 9 and 11 weeks of pregnancy. We recommend to restrict the number of insertions to a maximum of 3. The rate of failed samplings was 4, reflecting a low "aggressiveness in seeking a sample". Complete follow-up of 259 consecutive cases gave no indication of an increased rate of congenital anomalies following CVS in early pregnancy. In our study we also performed cervical swabs, pregnancy hormone testing, maternal serum AFP determination prior to and after CVS as well as maternal AFP screening at 16 weeks of pregnancy together with a detailed sonographic examination. We conclude that CVS can be considered now a safe and reliable diagnostic procedure, but requires further detailed documentation and close follow-up in controlled trials.

Abortion, Spontaneous↗
PubMed1985

Direct-vision sampling of chorionic villi during extra-amniotic instillation of physiologic saline solution: effect on intrauterine pressure and fetal heart activity.

After 150 ml of physiologic saline solution had been infused into the extra-amniotic space before first-trimester vacuum aspiration abortion, intrauterine pressure ranged between 16 and 23 mm Hg, thus not more than during Braxton Hicks contractions. At chorionic villi sampling during continuous saline solution infusion, fetal heart activity (beats per 15 seconds) decreased temporarily from about 36 to about 33.

Amnion↗
PubMedDate not supplied

[Sampling of the chorionic villi: transcervical fine-needle and endoscopic aspiration].

In 63 cases chorionic villi sampling has been performed under complete anesthesia just before legal abortion; nine of them were endoscopic transcervical and 54 transcervical by means of a catheter under direct ultrasonic control. 81% offered useful chorionic villi, 17.4% only decidual material. The last 21 aspirations by means of a catheter between the 8th and the 12th week of gestation (p.m.) caused no problem at all. From the first punction on useful chorionic material has been obtained.

Abortion, Legal↗
PubMed1991

[Prenatal cytogenetic diagnosis using chromosomal preparations of the native biopsy samples of chorionic villi, cultured chorionic cells and amniocytes].

Analysis of the results of prenatal cytogenetic diagnosis carried out in the first and second pregnancy trimesters in more than 300 women permitted comparing the efficacies of two methodologic approaches, diagnostic amniocentesis and chorion sampling , with due consideration for the methodologic errors typical of these methods and of the tested biologic material. Up to 5% of the diagnoses are erroneous if the diagnosis is based on chorion sampling data, whereas in amniocentesis the share of diagnostic errors is lower by an order. The authors have given a theoretical rationale for and tried a methodologic approach, involving the employment of the 'direct' chromosomal preparations from villous chorion biopsy specimens and the so-called 'maintained' cell culture technique, that permits obtaining chromosomal preparations of higher quality and, consequently, helps improve the accuracy of chromosomal diagnosis.

Adult↗
PubMed1986

Identification of trophoblast in chorionic villi biopsy samples.

We have investigated a test for rapid discrimination between foetal and maternal origin of chorionic villi biopsy samples. A monoclonal antibody named H315 reacting against a specific antigen present on the surface of foetal trophoblastic cells, plus a double-colour staining technique (FITC + PI), have been used for the identification of foetal cells (H315-positive) and for visualization of nucleate (PI-positive) and anucleate (PI-negative) structures of chorionic villi. This test could be useful in differentiating foetal and maternal cells in chorionic villi biopsy samples currently used for prenatal diagnostic purposes.

Antibodies, Monoclonal↗
PubMed2026

Evaluation of the efficacy of optical genome mapping in prenatal diagnosis: a retrospective cohort study.

BACKGROUND: Optical genome mapping (OGM) is an emerging cytogenetic method for concurrently detecting structural variants (SVs) and copy number variants (CNVs). However, its clinical application in prenatal diagnosis remains underexplored. METHODS: This study retrospectively evaluated the clinical validity of OGM in prenatal diagnosis by comparing with two routine genetic testing methods: karyotyping and chromosomal microarray analysis (CMA). Both positive and negative cases detected by routine genetic methods were enrolled to evaluate the technical concordance of OGM and its capability to improve diagnostic rate in negative cases. The exclusion criteria were balanced centromeric translocations, mosaic cases with cellular fractions&#x2009;<&#x2009;20%, and loss of heterozygosity (LOH)&#x2009;<&#x2009;25&#xa0;Mb. All samples subjected to OGM testing were anonymized and analyzed blindly. The results from OGM were compared with those from routine genetic testing, and statistical analyses were performed to assess technical concordance and diagnostic rate. RESULTS: Of 217 samples (166 positive samples and 51 negative samples for routine genetic testing), all were successfully tested with OGM, including 2 umbilical cord blood samples, 4 chorionic villi samples, and 211 cultured amniotic fluid samples. Of the 207 reportable chromosomal aberrations from 166 positive samples, the blinded concordance between OGM and CMA, karyotyping, and combination of karyotyping plus CMA was 97.81%, 96.36%, and 97.10%, respectively. OGM missed six aberrations initially, including one LOH, two marker chromosomes, and three microdeletions. However, after reanalysis, its concordance improved to 100% with CMA and 99.03% with karyotyping plus CMA. OGM also diagnosed one additional case of a 3-kb deletion in 51 negative samples, improving the diagnostic rate by 1.96%. Moreover, OGM reclassified the pathogenicity of two microdeletions from pathogenic to uncertain significance in 2 positive cases. Furthermore, OGM clarified the diagnosis suspected by routine genetic testing and improved diagnostic accuracy in some cases. CONCLUSION: As far as we know, this is the largest retrospective study on OGM in prenatal diagnosis, and it includes a broad range of sample types. The results showed that OGM exhibits high concordance among the tested methods and increases the diagnostic rate. Thus, OGM has the potential to become a first-line technique for prenatal diagnosis in the future.

Humans↗