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PubMed1992

Chorionic villus sampling in Auckland 1989-90.

AIMS: to perform an audit of all 197 chorionic villus sampling procedures performed in Auckland in 1989-90. METHOD: an attempt to trace the outcome in all 197 cases and this was possible in 188 cases. RESULTS: 89% of chorionic villus samples were performed transvaginally and 11% transabdominally. The total fetal loss rate was 9.6% (18) with six spontaneous miscarriages before 20 weeks gestation (3.2%), one intermediate fetal death and one neonatal death. There were 10 elective terminations of pregnancy following abnormal results so the spontaneous loss rate was 4.3%. CONCLUSIONS: the loss rate was lower than that reported in the European and Canadian multicentre trials. The sampling success rate, however, was poor with 13.7% failed procedures. This improved in the second year of the service to 10%. There were no failure cultures or examples of mosaicism.

Abortion, Spontaneous↗
PubMed1991

Transabdominal chorionic villus sampling for rapid karyotyping in advanced gestation.

Late pregnancy fetal karyotyping is not employed often because a clinical decision about labor and delivery may be required before the results would be available. However, percutaneous umbilical blood sampling (PUBS) has been used recently to obtain fast karyotypes. We have extended our chorionic villus sampling (CVS) procedure to the second and third trimesters and compared the results obtained with late CVS and PUBS. CVS karyotypes were obtained faster and may be technically easier to perform.

Chorionic Villi Sampling↗
PubMed2001

Prenatal diagnosis for women aged 37 years and over: to have or not to have.

Forty percent of pregnant women aged 37 years and over do not have prenatal diagnosis despite being eligible for a free test. The present study aimed to determine how often, and which, untested women were making a choice about this, how many declined an offer and why. A questionnaire was given to untested women, aged 37 years and over, at no less than 24 weeks gestation. A total of 375 (81.5%) women declined, 72 (16%) were not offered a test and 13 presented too late antenatally. There was a three-fold increased likelihood (OR 3.10 95% CI 1.44, 6.65) of no offer for urban non-English speaking background women, compared with the reference group (metropolitan, English speaking). Unpartnered women were also significantly less likely to receive an offer (OR 3.18, 95% CI 1.19, 8.46). Risk to the baby was the main reason for declining. When offered non-invasive prenatal screening, most decliners of prenatal diagnosis accepted, even those who declined because they were opposed to abortion. We estimate that overall 33% of older pregnant women were being offered and declining amniocentesis and/or chorion villus sampling (CVS). Only 6% were not offered a test, but this small proportion is over-represented by minority groups who must be given equal opportunity to make this choice.

Adult↗
PubMed1994

The predictive value of cytogenetic diagnosis after CVS based on 4860 cases with both direct and culture methods.

Cytogenetic analysis was performed in 4860 chorionic villus samples by means of both direct preparation and long-term culture. The results of the analysis were compared with a classification including all theoretical types of combinations between the chromosomal constitution of the cytotrophoblast, extraembryonal mesoderm, and fetus, with the aim of evaluating the cytogenetic variability along the trophoblast-embryo axis. Eighteen of 29 possible combinations were found demonstrating a considerable heterogeneity. A mosaic conceptus was found in 1.5 per cent of cases, with generalized mosaicisms and confined mosaicisms in 0.2 and 1.3 per cent, respectively. Cytogenetic variability along the trophoblast-embryo axis was found in 1.42 per cent of cases. Results possibly leading to diagnostic errors (false-positive and false-negative results) were found in only 1.38 per cent. False-positive results of direct preparation were the most commonly observed discrepancy (0.8 per cent), while the incidence of false-positive results of the culture method and of both methods was 0.31 and 0.16 per cent respectively. The incidence of false-negative results was 0.1 per cent, with false-negative results of direct preparation 0.08 per cent and false-negative results of both methods 0.02 per cent. False-negative results of the culture method were not found. Our data confirm the high diagnostic accuracy of chorionic villus sampling and the utility of the combined use of the two methods in minimizing diagnostic errors and in reducing the need for follow-up amniocentesis.

Chorionic Villi Sampling↗
PubMed2004

Microarray analysis of cell-free fetal DNA in amniotic fluid: a prenatal molecular karyotype.

Metaphase karyotype analysis of fetal cells obtained by amniocentesis or chorionic villus sampling is the current standard for prenatal cytogenetic diagnosis, particularly for the detection of trisomy 21. We previously demonstrated that large quantities of cell-free fetal DNA (cffDNA) are easily extracted from amniotic fluid (AF). In this study, we explored potential clinical applications of AF cffDNA by testing its ability to hybridize to DNA microarrays for comparative genomic hybridization (CGH) analysis. cffDNA isolated from 11 male fetuses showed significantly increased hybridization signals on SRY and decreased signals on X-chromosome markers, compared with female reference DNA. cffDNA isolated from six female fetuses showed the reverse when compared with male reference DNA. cffDNA from three fetuses with trisomy 21 had increased hybridization signals on the majority of the chromosome 21 markers, and cffDNA from a fetus with monosomy X (Turner syndrome) had decreased hybridization signals on most X-chromosome markers, compared with euploid female reference DNA. These results indicate that cffDNA extracted from AF can be analyzed using CGH microarrays to correctly identify fetal sex and aneuploidy. This technology facilitates rapid screening of samples for whole-chromosome changes and may augment standard karyotyping techniques by providing additional molecular information.

Amniocentesis↗
PubMed2004

Assessment of efficacy of cell separation techniques used in the enrichment of foetal erythroblasts from maternal blood: triple density gradient vs. single density gradient.

The aim of this study was to determine the efficacy of cell separation with single density and triple density-gradient techniques in the yield of foetal erythroblasts isolated from maternal blood. Maternal blood was obtained from 20 singleton pregnancies at 11-14 weeks of gestation immediately before foetal karyotyping by chorionic villus sampling. In each woman, the blood sample was divided into two portions; one portion was used for single density-gradient separation and the other, for triple density-gradient separation. Magnetic cell sorting (MACS) was subsequently performed with anti-CD71/antiglycophorin-A. The enriched erythroblasts were stained with Kleihauer-Giemsa and with fluorescent antibodies for the gamma, epsilon and zeta globin chains. The percentage of foetal cells positive for each stain was calculated. Fluorescence in situ hybridization (FISH) for X- and Y-chromosomes was also performed. Comparison was made in the proportion of enriched foetal cells between the two separation methods for each CD71 and glycophorin-A (GPA) antibody. The percentage of erythroblasts enriched from maternal blood that stained positive for gamma, epsilon and zeta globin chains and with Kleihauer-Giemsa was significantly higher in the triple density-gradient separation fractions compared with the single density-gradient fractions with both anti-CD71 and GPA MACS. FISH analysis for the Y-chromosome confirmed the increase in foetal cell proportion in the triple density-gradient samples. Isolation of foetal erythroblasts from maternal blood using triple density-gradient separation and MACS is more effective with regard to foetal cell yield and purity than single density-gradient separation and MACS.

Cell Separation↗
PubMedDate not supplied

Prenatal diagnosis for Schmid metaphyseal chondrodysplasia in twins.

We report prenatal diagnostic studies for metaphyseal chondrodysplasia of the Schmid type. Identification of a specific COL10A1 gene mutation in an affected father allowed prenatal diagnosis by chorionic villus sampling in a twin pregnancy. Neither of the nonidentical twins received the abnormal COL10A1 gene from their affected father. This result was confirmed by postnatal DNA analysis. Prenatal diagnosis can be offered to all families with characterized COL10A1 gene mutations.

Chorionic Villi Sampling↗
PubMed1999

Prenatal molecular diagnosis of Wiskott-Aldrich syndrome by direct mutation analysis.

We have performed prenatal diagnosis for Wiskott Aldrich syndrome (WAS) in two unrelated families by direct gene analysis. Using a combined non-radioactive analysis of single-strand conformational polymorphism (SSCP) and heteroduplex formation (HD), followed by automated sequencing, we studied DNA from chorionic villus sampling (CVS), allowing the diagnosis of one affected and one healthy male at the 12th week of gestation.

Base Sequence↗
PubMed1993

[Prenatal diagnosis in Scandinavia].

Prenatal diagnosis in the form of cytogenetic analysis of cultured fetal cells was introduced in the early 1970's in the Nordic countries. The total number of analyses carried out in 1970-1990 was approximately 70,000 in Denmark, which has the largest number of investigations, and approximately 7,500 in Norway having the lowest rate per 1,000 live births. Since the 1970's there has been access to induced abortions in all the Nordic countries. Table III shows the total number of analyses during 1988-1990 as well as total number of prenatal investigations per 1,000 live births. Table IV presents the percentage of chorionic samples in relation to the total number of investigations and Table VI shows the number of induced abortions in pregnancies with prenatally diagnosed abnormal fetuses. An English version of the article can be obtained from the authors.

Abortion, Therapeutic↗
PubMed1986

First trimester fetal karyotyping: one thousand diagnoses.

Cytogenetic investigations for diagnostic purposes were performed on 1000 first trimester samples of chorionic villi (CVS) in two laboratories using similar techniques. Fetal karyotyping was the primary indication for CVS in 912 and maternal age was the major indication in 758 of them. The risk category "previous child/fetus with chromosome abnormality" included 74 diagnoses, while the category "chromosome abnormality in one of the parents" included 38 diagnoses. Sex determination was the primary indication for CVS in 53 pregnancies. The overall incidence of chromosomal abnormalities was 70, of which 47 were balanced and 23 unbalanced. The results are detailed for each of the risk categories and the incidence of abnormal karyotypes is given for each year of maternal age. In the maternal age of 35-37 years the incidence of unbalanced karyotypes was 2.9% and in the years 38 onwards it was 6.6%. The incidence of unbalanced karyotypes was about 4% when the sampling was made in the weeks 9 to 12 but six abnormal karyotypes were found among 39 CVS performed at the eight week of gestation. The 11 trisomies of the type not found at birth were clustered between the 8th and the 10th week of pregnancy. The technical problems encountered in this experience and the preliminary estimates of fetal loss are discussed.

Abortion, Spontaneous↗
PubMed1991

First-trimester genetic diagnosis in multiple pregnancy: principles and potential pitfalls.

Both the principles of first-trimester genetic diagnosis in multiple pregnancy and the special considerations required to avoid potential diagnostic pitfalls are presented. The experience consisted of 65 cases of twins and one case of quadruplets. Dichorionic twins were recognized by sonography in 54 cases. Transabdominal aspiration was generally preferred to transcervical for obtaining chorionic tissue, although in two cases both approaches were used. Diagnostic error following erroneous sampling was reported in 3 out of 54 sets of dichorionic twins (5.5 per cent). When like-sex dichorionic twins cannot be differentiated by cytogenetic or DNA polymorphism studies, amniocentesis should be recommended to confirm the reliability of the result on chorionic tissue.

Adult↗
PubMed1993

Cook obstetrics and gynecology catheter multicenter chorionic villus sampling trial: comparison of birth defects with expected rates.

OBJECTIVE: The null hypothesis was that offspring of women undergoing first-trimester chorionic villus sampling do not experience a rate of birth defects exceeding background rates. STUDY DESIGN: Follow-up information regarding major malformations was prospectively sought on offspring of 4105 women undergoing first-trimester chorionic villus sampling from nine centers participating in a collaborative study with the Cook obstetrics and gynecology catheter. These data were compared with data from the Collaborative Perinatal Project and other registries. RESULTS: A total of 84 offspring with major malformations was identified (2.36%). Compared with background rates, there was no increase in the incidence of total malformations or specific malformations (including limb reduction defects) in the subjects. One institution experienced all three limb reduction defects in this series; the probability of this occurring by chance alone is < 1%. CONCLUSION: Chorionic villus sampling was not found to result in an increase in major birth defects or in specific categories of birth defects in this series.

Catheterization↗
PubMed1994

Midtrimester chorionic villus sampling: an alternative approach?

OBJECTIVE: Our purpose was to audit midtrimester chorionic villus sampling after a positive maternal serum screening test for autosomal trisomy. STUDY DESIGN: From January 1990 until July 1993 chorionic villus sampling was offered to all screened positive women. RESULTS: Five hundred fifty-one mothers had chorionic villus sampling. The mean age was 31.7 years. The mean gestational age was 18.2 weeks. The mean time for direct karyotyping was 4.4 days and for culture results 20.2 days. Results were obtained in 99.6% of samples: direct plus culture results in 94%, direct results alone in 2.3%, and culture results alone in 3.3%. Fourteen pregnancies had abnormal karyotypes. There were five cases of placental mosaicism and one false-positive result. The loss rate was 0.4%. CONCLUSION: Midtrimester chorionic villus sampling, which is easier to perform than cordocentesis, provides a rapid and reliable karyotype. The complication rate is comparable to that of other invasive procedures.

Adult↗
PubMed2002

Second-trimester amniocentesis vs. chorionic villus sampling for prenatal diagnosis in multiple gestations.

OBJECTIVE: To study the impact of invasive procedures for prenatal diagnosis on multiple pregnancies and compare first-trimester chorionic villus sampling with second-trimester amniocentesis. DESIGN: Retrospective study of 347 second-trimester amniocenteses and 69 chorionic villus sampling procedures. RESULTS: Miscarriage occurred in 4.18% of women after amniocentesis and 4.54% of women after chorionic villus sampling. In the amniocentesis group the risk of miscarriage was higher in the cases with transplacental entry (4.54%) than in those with transamniotic entry (2.08%). The rates of preterm delivery < or = 32 weeks and preterm delivery < or = 35 weeks in the amniocentesis group were 11.8% and 32.4% and in the chorionic villus sampling group 16.66% and 23.8%, respectively. Total fetal loss rate was similar in the amniocentesis group (8.8%) and the chorionic villus sampling group (10.22%). In the 21 cases where selective feticide was carried out the total fetal loss rate was lower in the chorionic villus sampling group (8.3%) than in the amniocentesis group (11.1%), although the difference did not reach statistical significance. CONCLUSION: Chorionic villus sampling appears to be a safe alternative to amniocentesis and should be considered as the method of choice particularly when there is a high risk of an affected fetus necessitating selective feticide.

Abortion, Induced↗
PubMed1992

A randomized comparison of transcervical and transabdominal chorionic-villus sampling. The U.S. National Institute of Child Health and Human Development Chorionic-Villus Sampling and Amniocentesis Study Group.

BACKGROUND: Chorionic-villus sampling is done in early pregnancy to obtain fetal cells for the prenatal diagnosis of genetic and chromosomal defects. Transcervical chorionic-villus sampling has been shown to be safe and effective in national trials. Recently, an alternative transabdominal technique has been suggested as potentially easier and safer. METHODS: From April 1987 through September 1989, we prospectively compared transcervical and transabdominal chorionic-villus sampling in 3999 women with singleton pregnancies in whom the risk of a genetically abnormal fetus was increased. Women between 7 and 12 weeks of gestation underwent ultrasonographic evaluation of placental and uterine position. Those with active vaginal infections, active bleeding, or cervical polyps were excluded. If the obstetrician thought either sampling procedure was acceptable, the woman was asked to consent to random assignment to one of the two procedures. Both groups were followed to determine the outcome of pregnancy and the rate of spontaneous fetal loss after chorionic-villus sampling. RESULTS: Among the 3999 women who entered the study, sampling was attempted in 3873 (97 percent), 1944 of whom had been assigned to undergo transcervical sampling and 1929 to undergo transabdominal sampling. Of these 3873 women, sampling was eventually successful in 3863. Sampling was successful after a single insertion of the sampling instrument in 94 percent of the transabdominal procedures and 90 percent of the transcervical procedures. Among the women with cytogenetically normal pregnancies who had sampling because of maternal age, the rate of spontaneous fetal loss through 28 weeks of pregnancy was 2.5 percent in the transcervical-sampling group and 2.3 percent in the transabdominal-sampling group (difference, 0.26 percent; 95 percent confidence interval, -0.5 to 1.0 percent). CONCLUSIONS: Transabdominal and transcervical chorionic-villus sampling appear to be equally safe procedures for first-trimester diagnosis of fetal abnormalities.

Abdomen↗
PubMed1997

Skewed X-chromosome inactivation is common in fetuses or newborns associated with confined placental mosaicism.

The inactivation of one X chromosome in females is normally random with regard to which X is inactivated. However, exclusive or almost-exclusive inactivation of one X may be observed in association with some X-autosomal rearrangements, mutations of the XIST gene, certain X-linked diseases, and MZ twinning. In the present study, a methylation difference near a polymorphism in the X-linked androgen-receptor gene was used to investigate the possibility that nonrandom X inactivation is increases in fetuses and newborns that are associated with confined placental mosaicism (CPM) involving an autosomal trisomy. Extreme skewing was observed in 7 (58%) of 12 cases with a meiotic origin of the trisomy, but in none of 10 cases examined with a somatic origin of the trisomy, and in only 1 (4%) of 27 control adult females. In addition, an extremely skewed X-inactivation pattern was observed in 3 of 10 informative cases of female uniparental disomy (UPD) of chromosome 15. This may reflect the fact that a proportion of UPD cases arise by "rescue" of a chromosomally abnormal conceptus and are therefore associated with CPM. A skewed pattern of X inactivation in CPM cases is hypothesized to result from a reduction in the size of the early-embryonic cell pool, because of either poor early growth or subsequent selection against the trisomic cells. Since approximately 2% of pregnancies detected by chorionic villus sampling are associated with CPM, this is likely a significant contributor to both skewed X inactivation observed in the newborn population and the expression of recessive X-linked diseases in females.

Adult↗
PubMed2003

Distribution of fetal erythroblasts in maternal blood after chorionic villous sampling.

OBJECTIVE: To investigate whether chorionic villus sampling (CVS) is associated with an increase in fetomaternal cell trafficking. DESIGN: Prospective study. SETTING: King's College London School of Medicine, King's College Hospital. SAMPLE: Eighteen singleton pregnancies undergoing CVS for fetal karyotyping at 11-14 weeks of gestation and subsequently found to have chromosomal defects. METHOD: Maternal blood samples were obtained immediately before and at 3-14 (median 5) days after CVS. Fetal erythroblasts were isolated using triple density gradient separation and anti-CD71 magnetic cell sorting techniques. The enriched erythroblasts were stained with Kleihauer-Giemsa and with fluorescent antibodies for the epsilon (epsilon) and gamma (gamma) globin chains. The percentage of fetal cells positive for each stain was calculated. Fluorescence in situ hybridisation (FISH) for X- and Y-chromosomes was also performed. Comparison was made in the proportion of enriched fetal cells between the pre-CVS and post-CVS samples. MAIN OUTCOME MEASURES: The proportion of fetal erythroblasts in maternal blood. RESULTS: The percentage of erythroblasts enriched from maternal blood that stained positive for epsilon and gamma globin chains and with Kleihauer-Giemsa was significantly higher in the post-CVS samples compared with the pre-CVS samples. FISH analysis for the Y-chromosome confirmed the increase in fetal cell proportion in the post-CVS samples. The percentage difference in fetal cells decreased significantly with time interval from CVS. CONCLUSION: CVS results in an increase in fetomaternal cell trafficking, which continues to be present for several days after the procedure.

Adult↗