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At least 19 recordsLinked to original sources
PubMed1992

[Chorionic villi sampling: choice of transcervical or transabdominal routes preferable to use of transcervical route exclusively].

Between November 1985 and June 1990 we performed 400 first trimester chorionic villi samplings (CVS). In the first 107 cases only transcervical CVS was performed, regardless of placental location. Later, 163 transcervical and 130 transabdominal CVS were performed, depending on placental location. Anterior and fundal placentas were approached transabdominally and posterior placentas transcervically. Multiple pregnancies were excluded. Successful results were obtained in 394 out of 400 cases. There were 5 failures in the first set of cases and 1 in the second (p < 0.05). In 14 cases (3.5%) fetuses with normal karyotypes were spontaneously aborted, 5 of these in the first period (4.7%) and 9 (3.1%) in the second. The spontaneous abortions in the second period followed transabdominal CVS in 4 cases out of 130 (3.1%) and the transcervical route in 5 cases out of 163 (3.105%). The average attempts per case in the first period was 1.44 (SD 0.66) while in the second it was 1.17 (SD 0.44, p < 0.0001) for the transcervical route and 1.06 (SD 0.2, p < 0.002) for the transabdominal route. In our experience choosing between transabdominal and transcervical CVS according to placental location is preferable to the sole use of transcervical CVS in terms of lower failure rate and fewer attempts per case. Proficiency in both techniques is mandatory for optimal results.

Abdomen↗
PubMed1990

[Chorionic villi sampling. Amniocentesis. Cordocentesis].

For early antenatal diagnosis, chorionic villus sampling (CVS) represents a valid alternative to early amniocentesis. It gives rapid results with minimal increase in risks (miscarriage about 1.5 p. cent). The indications of CVS are therefore likely to broaden. For late antenatal diagnosis, linked to an echographic or clinical anomaly, sampling of fetal blood by funicular puncture is taking precedence over sampling of amniotic fluid. Results can be obtained easily and much more quickly at low risk (about 1 p. cent). These techniques are in no way alternatives, but rather complement one another. It is always advisable to choose with care the technique that offers the greatest information with maximum safety.

Amniocentesis↗
PubMed1991

[Experience with chorionic villi sampling].

The authors discuss their experiences from 412 chorion villus samplings, (CVS), which they have done under four and a half years since 1985. They used eight types of instruments in performing their examinations and each instrument proved to be satisfactory in the gaining of chorion villus samples, suitable for further tests. They also discuss the bacteria found most frequently in the vagina on the basis of the examination and culturing of both vaginal and cervical fluid done prior to 151 CVS examinations and the effective method with which ascending infection can be prevented. They discuss a distributional pattern of their results based on the different indications for the CVS examinations, and the outcome of each of the pregnancies after CVS. In 377 cases they did direct karyotyping, in 30 cases DNA examination and in five cases enzyme determination also occurred.

Bacterial Infections↗
PubMed1990

The role of transvaginal sonography in chorionic villi sampling.

Vaginosonography has the potential of improving not only accurate diagnosis preceeding chorionic villus sampling but also the sampling procedure itself. The vaginosonographic diagnostic landmarks of early pregnancies are the contact area between the amnion and the chorion, the insertion of the umbilical cord, the yolk sac and the decidua-trophoblast complex. The occurrence of a "Swiss-cheese-pattern" in the latter structure is a strong hint for an unfavourable outcome of early pregnancy. Vaginosonographically guided puncture is a promising approach for chorionic villus biopsy. The punturing facilities are firmly attached to the high resolution vaginal ultrasound probe. Thus, precise ultrasound-guided puncture penetrating the vaginal skin and the uterine wall in the shortest possible distance has become possible.

Adolescent↗
PubMed1990

[Chorionic villi sampling: experience of the initial 500 samples].

We report our experience in first trimester antenatal diagnosis since 1984. Transcervical chorionic villus sampling (CVS) was performed in 498 pregnancies. The rate of abnormal pregnancies was 6%, the rate of chromosomal abnormalities (trisomy) in the indication group "maternal age" was 2%. The fetal loss rate (until 28 weeks) was 3.4% (17 cases), the procedure related loss plus the background loss was 2.4% (12 cases). For 92.8% of the patients a diagnosis was available after 1 CVS procedure. Ultimately an antenatal diagnosis was given to 99% of the women through a second CVS procedure or an amniocentesis or a cordocentesis. No maternal complication was observed.

Chorionic Villi Sampling↗
PubMedDate not supplied

How can the frequency of false-negative findings in prenatal diagnoses of fra(X) be reduced: experience with first trimester chorionic villi sampling.

We report on 12 prenatal diagnoses performed between weeks 10 and 13 on normal women with a well-documented family history of the Martin-Bell syndrome. Seven were obligate and three were potential carriers. One male and 2 female fetuses were found to be fragile X [fra(X)]-positive. The diagnoses were confirmed in fibroblasts or lymphocytes after interruption or postnatally. In one fra(X)-negative female fetus, the analysis of linked DNA markers indicated that most probably she was a heterozygote. Reexamination after birth gave a fra(X)-positive result. Hence this was a case of a false-negative prenatal fra(X) result. The occurrence of false-negative cytogenetic results represents a common problem that limits the sensitivity of prenatal diagnostics in the Martin-Bell syndrome. A study of linked DNA markers can improve the reliability of negative cytogenetic results in first trimester prenatal diagnosis. In case of doubt, the chromosomes could be reexamined after fetal blood sampling.

Chorionic Villi Sampling↗
PubMed1992

[Chorionic villi sampling and prenatal diagnosis].

The authors report their experience of 790 villous specimens taken either early (for 430 cases) or late (360 cases) between 10 and 37 weeks of amenorrhea (WA) using a transabdominal syringe. In the early choriocentesis cases, they conclude that use of the transabdominal route after 12.5 WA, regardless of the position of the chorion, makes it possible significantly to reduce the rate of fetal loss which becomes similar to that for amniocentesis. Placentocentesis has been used at later stages, either for high-risk couples as an alternative to amniocentesis (183 cases), or in cases of ultrasound abnormalities (177 cases) as an alternative to amniocentesis or cordocentesis. Placentocentesis makes it possible to obtain the fetal karyotype very rapidly within 1 to 2 days.

Abortion, Spontaneous↗
PubMed1990

[Amniocentesis versus choriocentesis (chorionic villi sampling) and cordocentesis (fetal blood sampling)].

Opinions are still divergent regarding the respective place of amniocentesis and choriocentesis in the scheduled prenatal diagnosis. Amniocentesis (PLA) is the oldest method. This technique is perfectly mastered as well as its results, complications; its follow-up is 17-18 years in the world and over 16 years in Lyon. The rate of technical failures is inferior to 0.5 p. cent under ultrasonographic control. Its results are quite reliable (one error in 4 to 5,000 amniocentesis for the karyotype). The culture failures are under 1 p. cent. The titration of tracers, such as alpha-feto-protein or acetyl-cholinesterase is possible, favoring PLA over choriocentesis when there is a risk of neural dysraphias. PLA may be performed at any time during the pregnancy. Its main drawback seems to be its lateness: currently, the ideal time is 15-16 weeks. PLA performed earlier may result in more technical and culture failures. When performed at 12-13 weeks, it enters in competition with the choriocentesis although its theoretical risk of abortion is lower. Therefore, PLA and choriocentesis may be competitors, according to the risk factors and the indications, especially regarding cytogenetics.

Amniocentesis↗
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↗
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↗
PubMed1991

[Transabdominal chorion aspiration in the second pregnancy trimester].

The authors report their experiences with 377 transabdominal chorionic villi samplings performed in the second trimester of pregnancy, between 1987-1989. They used the double needle technique with continuous ultrasound guidance. In every case they could get a sufficient amount of villi from one puncture, and there was no unsuccessful direct chromosome-preparation. The obstetrical complications of the procedure were measured by the analysis of the outcome of the first 300 pregnancies intended to continue: the abortion rate after the transabdominal chorionic villi sampling seems to be lower, than after amniocentesis.

Adult↗
PubMed1990

[Prenatal diagnosis using chorionic biopsy in the 1st trimester of pregnancy].

One hundred-sixteen pregnant women were subjected to chorionic villi sampling at the gestational age of 8-11 weeks. In 12 cases, the transabdominal approach was used, and in the rest of the cases, a flexible catheter was placed transcervically. The most frequent indication was the age of the pregnant women (over 35). Chorionic villi sampling was successfully performed in 97.5% of cases. Fetal loss amounted to 1.9%.

Adult↗
PubMed1991

[Research on karyotypic consistency between chorionic villi and fetus].

In the last decade, chorionic villi sampling (CVS) has been widely accepted as a new technique in prenatal diagnosis. An inconsistency in karyotypes between CVS and fetal tissue was found in clinical practice, although the chorionic villi and the fetal tissues were from the same fertilized ovum. Karyotypes from direct chromosomal preparation of chorionic villi and cultured fetal tissues in 52 artificial abortion samples were compared. Results showed two cases with karyotypic inconsistency: (1) 46, XX/46, XY in the chorionic villus direct preparation and 46, XX in the fetal tissue; (2) 46, XY in the direct preparation of chorionic villi and 45,XY, t (15q21q) de novo in the fetal tissue. Our research demonstrates that karyotype from chorionic villus direct preparation does not always reflect the fetal karyotype.

Adult↗
PubMed1990

Prospective study of amniocentesis performed between weeks 9 and 16 of gestation: its feasibility, risks, complications and use in early genetic prenatal diagnosis.

This paper demonstrates that the outcome of amniocenteses performed between the 9th and the 14th weeks is similar to that of amniocenteses performed between the 15th and 20th weeks. We have performed and prospectively followed 615 amniocenteses between the 9th and 16th weeks of gestation. The outcome, risks, and complications are similar to those of amniocenteses at the usual time (after 15 weeks) and to the other groups of early amniocentesis (before 15 weeks). Early amniocentesis differs from amniocentesis at the usual time in that it carries higher rates of fetal losses and of amniotic fluid leakage, more confined cytogenetic abnormalities, and an increased number of patients who have the procedure postponed. Two cultures (0.32%) failed to produce results, 595 (96.7%) samples were obtained at the first tapping, 20 (3.3%) at the second attempt. alpha-Fetoprotein levels reach their maximum at 13 weeks. Amniocenteses between 15 and 16 weeks (293, or 47%) constitute the control group, those between 9 and 14 weeks (322) the experimental group. Early amniocentesis appears to be a safe early genetic prenatal diagnosis technique, an alternative to chorionic villi sampling.

Amniocentesis↗