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[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

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

Trisomy 14 mosaicism leading to cytogenetic discrepancies in chorionic villi sampled at different times.

Short- and long-term cultures of chorionic villi obtained in the 11th week of pregnancy revealed trisomy 14. After induced abortion trisomy 14 mosaicism was established in fetal skin and umbilical cord tissue while a second long-term culture of chorionic villi exhibited a normal karyotype. The results of the pathological investigations are discussed with respect to the cytogenetic findings.

Abortion, Induced

[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

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

Transcervical chorionic villi sampling: a comparison between the silver cannula and the Portex catheter.

The Portex catheter and the silver cannula are two of the most widely used biopsy devices for chorionic villus sampling. In a prospective randomized study we used these two devices alternatively in 168 women. Significantly more trophoblastic tissue was obtained with the silver cannula than with the Portex catheter (p less than 0.05) while significantly more failures to obtain villus tissue were recorded with the Portex cannula (8/84 with the silver cannula vs. 19/84 with the Portex cannula; p less than 0.05). In 27 cases where use of the device met with failure to obtain chorionic villi after three attempts the other instrument was then used in the same patient (combined group). Four pregnancies aborted spontaneously after the procedure (2.4%). Significantly more complications occurred in the 'combined' group (4/27 vs. 4/168, p less than 0.05). A higher yield of trophoblastic tissue is possible with the silver cannula than with the Portex catheter.

Catheterization