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Results for “Chorionic Villi Sampling”

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PubMed1993

Carrier detection and prenatal diagnosis of hemophilia B with more advanced techniques.

We used the PCR to amplify three polymorphic regions of Factor IX gene on 35 Italian families: DdeI intron 1, Mn1I exon f, and the polymorphism HhaI located 8 kb at the 3' end of FIX gene. We analyzed the Mn1I and HhaI markers on DGGE and DdeI polymorphism on agarose gel. We reached an informativity of 78% and we found one mutation at codon 145 (exon f) during the screening for Mn1I polymorphism. Furthermore, we performed 16 prenatal diagnoses on chorionic villus samples; five were female and 11 male. Four were uninformative three healthy and one affected male fetus were recognized by PCR techniques, two healthy and one affected fetus by Southern analysis. In three pregnant women examined for the first time during pregnancy, the PCR technique allowed us to perform a rapid diagnosis of noncarrier status, avoiding the fetal sampling procedures.

Base Sequence↗
PubMed1995

Ultrasonographically guided intrauterine contraceptive device removal before chorionic villus sampling.

OBJECTIVE: Management of a retained intrauterine contraceptive device with no visible string during early pregnancy presents a dilemma. Because these devices are frequently used by multiparous women, it is not unusual that many women with retained devices are also of advanced maternal age. We describe our experience with ultrasonographically guided first-trimester retrieval of an intrauterine contraceptive device in conjunction with chorionic villus sampling. STUDY DESIGN: Patients with a first-trimester pregnancy and a retained intrauterine contraceptive device where no string was visible were offered ultrasonographically guided retrieval of the device. If the patient had genetic risks and desired prenatal diagnosis, chorionic villus sampling was offered at the same office visit. RESULTS: Six patients underwent intrauterine contraceptive device retrieval, under continuous ultrasonographic guidance, by use of an intrauterine contraceptive device hook. All patients had a posterior or fundal device. One patient had two in situ: a Lippes Loop (Ortho Pharmaceutical Corp., Raritan, N.J.) removed by its string and a Cu-7 (G.D. Searle & Co., Chicago) removed under ultrasonographic guidance. The remaining five patients had a Cu-7. Four of six patients had chorionic villus sampling performed immediately after the intrauterine contraceptive device removal and one patient had chorionic villus sampling 3 weeks later. There were two losses in our series: one after a lengthy procedure and one before documented viability. All infants were structurally normal and born at term. CONCLUSION: First-trimester ultrasonographically guided retrieval of a retained intrauterine contraceptive device may be safely performed in conjunction with chorionic villus sampling.

Adult↗
PubMed1995

Experience with early amniocentesis.

Literature concerning early genetic amniocentesis, obtained before 14-15 weeks of gestation, has been examined and compared. Key figures of post-procedural spontaneous fetal losses have been compared as well as cytogenetic data from the published series. Cytogenetically more samples fail to grow in the early weeks, but the diagnostic accuracy seems to be comparable with that of amniocentesis obtained in the later weeks. A sampling method, improving the cell yield by means of filtration, has been developed in order to lower the risk of culture failure and reduce the reporting time in the gestational weeks 11 to 13. The filter technique is under evaluation in a randomized trial. Detection of neural tube defects with early amniotic fluid sampling is possible, but whether the detection rate is comparable to that of standard amniocentesis remains to be seen. Although the safety of early amniocentesis has not yet been evaluated in a randomised study, data from almost 5,000 cases suggest that the procedure related loss rate is approximately 1%, and thus the same as for standard amniocentesis and chorionic villus sampling.

Amniocentesis↗
PubMed1993

[Chorionic villus needle sampling by the transabdominal route or by placental centesis. A series of 930 cases].

The authors report on a series of 930 chorion villus sampling diagnoses made with a needle by the transabdominal route, from January 1991 to October 1992 at the Prenatal Diagnosis Center in Marseille. Indications for prenatal diagnosis were: raised maternal age in 75% of cases (N:698); ultrasound findings in 11% (N:106), chromosome abnormalities in the family in 6% cases (N:53), raised human chorionic gonadotrophin in 4% cases (N:38), parental rearrangement in 2% cases (N:20), and sex linked disease in 1% (N:15). The success rate was 97% with 29 failures; the number of needle insertions was one in 97% cases and two in 3% cases. The average gestational age at sampling was related to the indications; 16 weeks of amenorrhoea for raised maternal age, and 22 weeks of amenorrhoea for ultrasound findings. Thirty one abnormalities were observed, four balanced translocations, and seven placental mosaicisms. Forty eight pregnancies terminated in abortion. The rate of fetal loss was 3.5% (7 cases) for the 200 first cases and 1% (8 cases) for the 730 following cases. Choriocentesis through the transabdominal route provides a diagnosis within a few days and the rate of fetal loss is close to that of amniocentesis. These arguments are in favour of an extension of this method of sampling.

Abortion, Therapeutic↗
PubMed2006

Partial trisomy 20p resulting from recombination of a maternal pericentric inversion: case report of a prenatal diagnosis by chorionic villus sampling.

We report a case of prenatal diagnosis of trisomy 20p resulting from a maternal pericentric inversion. The diagnosis was confirmed on both chorionic villi and amniotic cells. This case underlines the fact that prenatal ultrasound diagnosis of this structural anomaly is difficult. The only early sonographic feature was increased nuchal translucency.

Adult↗
PubMed1993

Chorionic villus sampling followed by amniocentesis in the same pregnancy.

In our consecutive series of 2,574 chorionic villus sampling (CVS) patients, 146 women (5.7%) underwent a subsequent amniocentesis in the same pregnancy for the indications of absent or insufficient villi (3.3%), elevated maternal serum alpha-fetoprotein (0.93%), CVS mosaicism (0.89%), culture failure (0.23%), specimen contamination (0.15%), and CVS aneuploidy (0.12%). Patients presenting for a CVS should be informed of the possible need for a subsequent amniocentesis in the same pregnancy. There is a need for individual prenatal diagnosis programs to analyze their own data and provide genetic counseling information which pertains specifically to their institution.

Amniocentesis↗
PubMed2004

Prenatal diagnosis of a true fetal tetraploidy in direct and cultured chorionic villi.

Prenatal diagnosis of a true fetal tetraploidy in direct and cultured chorionic villi: Tetraploidy is characterized by four complete sets of chromosomes (4n= 92). Although it has been frequently reported in spontaneous abortions, tetraploidy is extremely rare in term pregnancy. Most of late surviving patients are diploid/tetraploid mosaics and present severe mental and physical impairment. Up to date, only five tetraploidies were ascertained in the prenatal stage in amniocytes and/or fetal blood lymphocytes. No one has been reported in chorionic villi probably because tetraploidy is generally considered in this tissue as a false positive result due to confined placental mosaicism (CPM) or placental culture artefacts. We report here on a case of tetraploidy detected in chorionic villi because of fetal cystic hygroma. We discuss the reliability of this diagnosis and propose guidelines in the follow-up of tetraploidies detected after chorionic villus sampling (CVS). Thus a misdiagnosis of this poor condition will be avoided at best and an appropriate genetic counseling will be given to the parents.

Amniocentesis↗
PubMed1991

Randomized clinical trial of transabdominal versus transcervical chorionic villus sampling methods.

The relative advantages and disadvantages of transabdominal (TA) and transcervical (TC) chorionic villus sampling (CVS) in terms of fetal risks and efficacy were evaluated in a clinical trial conducted on 1194 women randomized at 7-12 weeks' gestation. The results of the study indicate that, if any, the relative risk of fetal loss following either procedure is less than double that of the alternative technique when performed by a skilled operator. Overall, the fetal loss rate (spontaneous abortions following randomization, terminations of pregnancy, and perinatal deaths) is 16.5 and 15.5 per cent, respectively, among women allocated to TA- and TC-CVS. The two procedures are equally effective, although TA-CVS is associated with a significantly lower rate of repeat device insertions; on the other hand, a higher weight of chorionic tissue is obtained, on average, with TC-CVS. Bleeding is more common following TC-CVS, while peritoneal reaction developed only after TA-CVS. No diagnostic problems specifically related to one sampling technique were identified.

Birth Weight↗
PubMed1994

Early amniocentesis--a cytogenetic evaluation of over 1500 cases.

We report our cytogenetic experience of 1554 early amniocenteses between weeks 11 and 14 of gestation, of which 44 per cent were performed prior to week 14. The mean culture time was 14.5 days. Karyotyping was successful in 99.7 per cent of cases. In 9.9 per cent of cases, there was pseudomosaicism with a high rate of loss of an X-chromosome and structural aberration of chromosome 1, which may be due to the Chang medium. The mosaic rate was 0.5 per cent. The overall aberration rate was 2.8 per cent. Our data confirm the reliability of early amniocentesis, which is a serious alternative to standard amniocentesis and chorionic villus sampling (CVS).

Adult↗
PubMed1990

Increased severity of fetal hemolytic disease with known rhesus alloimmunization after first-trimester transcervical chorionic villus biopsy.

Fetomaternal hemorrhage secondary to chorionic villus biopsy has the potential to accelerate fetal hemolytic disease in the pregnant patient previously sensitized to red cell antigens. A case of poor fetal outcome after first-trimester transcervical chorionic villus sampling in an alloimmunized patient is reported. An increase in antibody titers was associated with the demise of a hydropic fetus early in the second trimester. Maternal red cell alloimmunization is suggested as an absolute contraindication for chorionic villus sampling performed for genetic indications.

Adult↗
PubMed1998

Antenatal genotyping of the blood groups of the fetus.

Antenatal genotyping of the fetus is now in widespread use as an aid to the clinical management in cases where there is the potential of haemolytic disease of the newborn occurring. The rapid diagnosis of an antigen-negative fetus will preclude the requirement for further, potentially risky invasive procedures being performed, whilst the determination of an antigen-positive fetus allows the potential of intensifying obstetric care for this pregnancy. Molecular genotyping is a major clinical application which has led from the determination of the molecular bases of blood group antigens expressed, most of which have been defined at the level of the gene. All assays used are dependent on the Polymerase Chain Reaction amplification of fetal DNA derived from either amniotic fluid or chorionic villi. Recent work has explored the potential of utilising fetal cells found to be present in maternal peripheral blood as a source of nucleic acid for prenatal diagnosis. Using non-invasive methods will preclude exposing mother and fetus to the potential hazards of invasive methods (amniocentesis, chorionic villus sampling and cordocentesis) which include miscarriage, fetal malformations and further maternal alloimmunisation.

Adult↗