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PubMed1999

First trimester prenatal diagnosis: chorionic villus sampling.

Chorionic villus sampling has been used successfully for first trimester diagnosis of genetic disorders for over 14 years. When performed between 10 and 14 weeks' gestation, it is both safe and effective in the diagnosis of fetal chromosomal, biochemical, and molecular disorders, with risks comparable to those of second trimester amniocentesis. Cytogenetic results have been confirmed to be reliable and accurate. Although confined placental mosaicism occurs in approximately 1% of cases requiring interpretation, and occasionally additional invasive testing, its finding adds additional information about perinatal outcome and can alert the practitioner to fetal genetic disorders. Earlier concerns about procedure-induced limb defects have been reduced with the accumulation of additional data, showing minimal to no risk when chorionic villus sampling is performed after 70 days of gestation. In experienced hands, it may be the procedure of choice for sampling multiple gestations. Secondary to the advantage of safe, early diagnosis, chorionic villus sampling appears to be the optimal choice for first trimester testing.

Abortion, Spontaneous↗
PubMed1993

Probe-guided chorionic villus sampling. Report of a new technique.

This paper reports a new technique of chorionic villus sampling. A new probe has been developed to allow easier passage and manipulation of the catheter and improve visualization by ultrasound. Our initial experience with this new probe-guided sampling device indicates that it simplifies the operation, and this could improve the success rate.

Catheterization↗
PubMed1990

First trimester chorionic villus sampling for DNA analysis.

Early prenatal diagnosis of cystic fibrosis (CF) has become possible after the identification of linked DNA markers on chromosome 7. Chorionic villus sampling (CVS) has made possible the first-trimester prenatal diagnosis of CF. We report our experience of 336 pregnant women between 8-12th week. Six different types of sampling devices have been used to get chorionic tissue. Our results proved that the quantity and the quality of the sample gained was the same irrespective of the method employed in obtaining them.

Chorionic Villi Sampling↗
PubMed1992

Transvaginal chorionic villus sampling using transabdominal ultrasound guidance.

Transvaginal chorionic villus sampling (CVS) using concurrent transabdominal ultrasound guidance was performed in six women who desired CVS but could not be offered transcervical or transabdominal approaches because of uterine position and placental location. Satisfactory amounts of chorionic villi were obtained in all six cases with no maternal discomfort, an occurrence that contrasts with our experience in transvaginal CVS using endovaginal ultrasound guidance. We believe that transvaginal CVS using concurrent transabdominal ultrasound guidance warrants consideration as an alternative technique for first-trimester CVS in selected patients.

Adult↗
PubMedDate not supplied

Transvaginal chorionic villus sampling using transabdominal ultrasound guidance: a new technique for first-trimester prenatal diagnosis.

Transvaginal chorionic villus sampling (CVS) using concurrent transabdominal ultrasound guidance was performed in 20 women who desired CVS but could not be offered transcervical or transabdominal approaches because of uterine position and placental location. Satisfactory amounts of chorionic villi were obtained in all 20 cases with no maternal discomfort, an occurrence that contrasts with our experience in transvaginal CVS using endovaginal ultrasound guidance. We believe that transvaginal CVS using concurrent transabdominal ultrasound guidance warrants consideration as an alternative technique for first-trimester CVS in selected patients.

Adult↗
PubMed1992

Randomised comparison of amniocentesis and transabdominal and transcervical chorionic villus sampling.

We have compared three methods of prenatal diagnosis in two large obstetric centres in Denmark. Women were randomly assigned transabdominal (TA) chorionic villus sampling (CVS), transcervical (TC) CVS, or second-trimester amniocentesis (AC); women at high genetic risk were randomised between the two CVS groups only. Analysis of 45 epidemiological variables showed the three procedure groups to be similar at enrollment. All women were followed up until completion of pregnancy. Among 3079 women at low genetic risk total fetal loss rates were 10.9% for TC CVS, 6.3% for TA CVS, and 6.4% for AC (p < 0.001). More women had bleeding after the procedure in the CVS groups (p < 0.001), whereas more amniotic fluid leakage (p < 0.001) was reported after AC. No uterine infections occurred in any group. No case of oromandibular-limb abnormality was seen in the CVS groups, but 1 child in the AC group had aplasia of the right hand. The two CVS approaches were compared among 2882 women at low and high genetic risk who were found to have cytogenetically normal fetuses. Rates of unintentional loss after the procedure were 7.7% for TC CVS and 3.7% for TA CVS (p < 0.001; 95% Cl of difference 2.3-5.8%). At baseline ultrasound scanning after establishment of optimum sampling conditions, more TC than TA procedures (p < 0.001) were judged not to be feasible. We found that TA CVS allows better access to the placental site than TC sampling, is an easier skill to acquire, and has the potential that more villi can be aspirated when needed. The risk of fetal loss is similar after TA CVS and AC. However, losses after AC are at a later stage and are therefore more distressing. TA procedures remain the first choice for prenatal diagnosis. Since, in our hands, TC sampling carries a greater risk to the fetus, we have abandoned TC CVS in our two study centres.

Adult↗
PubMed1993

Transabdominal chorionic villus sampling in the second and third trimesters of pregnancy: chromosome quality, reporting time, and feto-maternal bleeding.

Transabdominal chorionic villus sampling (TA-CVS) was performed in 210 pregnancies from 13 to 38 weeks using a double-needle technique. The sampling success was comparable to first-trimester TA-CVS and the diagnostic success rate was 98.2 per cent for the short-term technique and 99.3 per cent for cultured villi. Two fetuses could not be karyotyped. We found the chromosome quality to be similar to that in the first trimester, comparing the number of G-bands and other chromosome attributes. There were no unintended losses in a group (n = 142) with no sonographic abnormality, except for one death in utero at 38 weeks, 20 weeks after sampling. Chromosomal aberrations were seen in 19 per cent of cases with abnormal sonograms (n = 58). One cases of a discordant karyotype was found (false-negative prediction of Down's syndrome by the short-term preparation). There were no cases of fetal demise due to feto-maternal bleeding. It is suggested that double-needle TA-CVS in advanced pregnancies combines the advantages of rapid karyotyping of chromosomes of good quality and low risk for the fetus, and seems to be easier to practise and is probably safer than cordocentesis.

Chorionic Villi Sampling↗
PubMed1991

Impact of prenatal testing on maternal-fetal bonding: chorionic villus sampling versus amniocentesis.

The process of maternal-fetal attachment, considered vital for normal infant development, begins during pregnancy and can be affected by a number of external factors. In this study the impact of prenatal testing on maternal-fetal bonding was evaluated in 253 women undergoing either first-trimester chorionic villus sampling (n = 101) or second-trimester genetic amniocentesis (n = 152). The women were evaluated by means of a modification of the Cranley Maternal-Fetal Attachment Scale, administered before and after the results of the prenatal diagnostic testing were made known to them (mean gestational ages of 10.6 and 15.7 weeks for the chorionic villus sampling group and 16.5 and 21.1 weeks for the amniocentesis group). The results showed: (1) that maternal-fetal attachment begins as early as 10 weeks' gestation and increases significantly as the pregnancy progresses, (2) that maternal-fetal attachment increases significantly, once the results are known to be normal, for both groups (p less than 0.001), (3) that this increase occurs about 5 weeks earlier for patients with chorionic villus sampling in comparison to those undergoing amniocentesis (p less than 0.001). Thus, with regard to the process of maternal-fetal attachment, first-trimester chorionic villus sampling appears to be preferable to second-trimester amniocentesis.

Amniocentesis↗
PubMed1999

Prenatal diagnosis of spinal muscular atrophy by direct molecular analysis: efficacy and potential pitfalls.

The efficacy of direct prenatal diagnosis for spinal muscular atrophy (SMA) is demonstrated, and the potential pitfalls with this type of analysis are highlighted in the largest prospective single-center prenatal series in the United States. The presence or absence of exons 7 and 8 of the SMN gene was determined from 66 fetuses from 51 families. Direct and cultured chorionic villus samples (CVS) and amniocytes were analyzed. DNA analysis to exclude maternal cell contamination was performed on all CVS. Follow-up was obtained for 48 cases; 13 pregnancies continue. One child predicted to be affected with SMA remains asymptomatic at 13 months. Thirty-three cases were confirmed to be clinically unaffected in agreement with the prenatal molecular results. Three of 24 CVS had maternal cell contamination. In conclusion, direct molecular analysis of either CVS or amniocytes is highly accurate in the prenatal diagnosis of SMA. However, maternal cell contamination of CVS samples can confound these analyses, and the possibility of contamination must be excluded routinely.

Amniocentesis↗
PubMed2004

Changes in the utilization of prenatal diagnosis.

OBJECTIVE: The impact of prenatal screening for Down syndrome has largely been assessed under the assumption that screening protocols and policies are fully used. To measure the overall effectiveness in actual clinical practice, we analyzed the tests performed by a single cytogenetics laboratory. METHODS: We reviewed all amniotic fluid and chorionic villus samples (CVS) processed by the University of Connecticut Health Center's cytogenetics laboratory for the years 1991 to 2002. We evaluated trends in the use of prenatal testing, referral indications, and the numbers of cytogenetic abnormalities identified. RESULTS: The number of women receiving amniocentesis or CVS declined more than 50% from 1,988 in 1991 to 933 in 2002 (P <.001), despite an increase in the number of women of advanced maternal age in the population served. There was a 68% decline in the number of women who underwent invasive prenatal testing solely on the basis of their age (1,314 in 1991 to 423 in 2002, P <.001). The number of Down syndrome fetuses detected prenatally increased from 20 to 31 (P =.08), representing approximately one half of the affected pregnancies present in the population served. Between 1991 and 2002, the proportion of antenatal cytogenetic tests with a significant chromosomal abnormality increased from 1 in 43 (2.3%) to 1 in 14 (7.0%; P <.001). CONCLUSION: Advances in maternal serum screening and second-trimester ultrasonography have resulted in more judicious use of amniocentesis and chorionic villus sampling. LEVEL OF EVIDENCE: II-2

Adult↗
PubMed2005

Infant morbidity following amniocentesis and chorionic villus sampling for prenatal karyotyping.

OBJECTIVE: To investigate whether amniocentesis and chorionic villus sampling increase the risk of postural deformities, limb reduction defects, respiratory problems in the newborn, fetal and infant mortality, prematurity, low birthweight and fetal distress, and to investigate the impact of gestational length at the time of the procedure. DESIGN: A population-based cohort study. SETTING: Sweden, 1991-1996. POPULATION: All women, 35 to 49 years old, with single births (n= 71,586). The women were classified as exposed to amniocentesis (n= 21,748) or chorionic villus sampling (n= 1984) or not exposed (n= 47,854). METHODS: Infant outcomes were collected from the Swedish Medical Birth Register, the Swedish Hospital Discharge Register, the Swedish Malformation Register and the Swedish Cause of Death Register. Odds ratios were calculated with logistic regression analyses. MAIN OUTCOME MEASURES: Crude and adjusted odds ratios of postural deformities, limb reduction defects, respiratory problems in the newborn, fetal and infant mortality, prematurity, low birthweight and fetal distress. Women exposed to amniocentesis or chorionic villus sampling were compared with non-exposed women. RESULTS: An increased risk of musculoskeletal deformities (OR = 1.32, 95% CI 1.11-1.57) including club foot and hip dislocation was found in the amniocentesis group, especially for amniocentesis prior to 14 weeks of gestation. Respiratory disturbances such as neonatal pneumonia, meconium aspiration, atelectasis and tachypnea were found more often in the amniocentesis group (OR = 1.12, 95% CI 1.02-1.24), with the greatest risk at 14 and 15 weeks of gestation. For the chorionic villus sampling group, no significant associations were found. No increase regarding limb reduction defects, fetal and infant mortality, prematurity, low birthweight and fetal distress was found in either the amniocentesis or the chorionic villus sampling group. CONCLUSIONS: Among women aged 35-49 years, amniocentesis before 14 weeks of gestation increases the risk of postural deformities. Amniocentesis at 14 and 15 weeks increases the risk of respiratory disturbances. For chorionic villus sampling, a larger study group is needed before such risks can be ruled out.

Adult↗
PubMed1991

Percutaneous transvesical chorionic villus sampling: an alternative approach to the retroverted uterus.

In 458 consecutive chorionic villus sampling (CVS) procedures, we observed a significant influence of uterine position upon sampling efficacy. Compared with anteverted (N = 243) or axial (N = 149) locations, the retroverted uterus (N = 66) was associated with a lower mean sample weight per aspiration (22, 18, and 15 mg, respectively; P less than .01) and a greater frequency of multiple-pass procedures (23, 31, and 52%, respectively; P less than .0001). To improve sampling efficiency in selected cases of uterine retroversion, we adopted a transvesical approach. When compared with transabdominal or transcervical techniques, transvesical CVS had the highest single-pass success rate (33, 33, and 60%, respectively). Only one in 30 transvesical cases required three placental passes, compared with nine of 36 retroverted uteri sampled by either transabdominal or transcervical techniques (P less than .05). The mean transvesical sample weight was 18.7 mg; at least 10 mg was retrieved in all cases. Post-procedure bleeding occurred in four instances and an additional patient suffered a spontaneous loss at 16 weeks' gestation. Aneuploidy was found in four of 30 biopsy specimens, and the remaining pregnancies either have delivered at term (N = 18) or are continuing (N = 7). Our preliminary experience suggests that selected use of this CVS method may improve sampling efficiency without increasing the incidence of complications.

Analysis of Variance↗
PubMed1993

Prenatal diagnosis of hereditary amyloidosis in a Portuguese family living in France.

Portuguese type amyloidosis is an autosomal dominant condition caused by a mutation in the transthyretin gene. This mutation can be detected directly by the presence of a restriction site for NsiI. We report here our first prenatal diagnosis for this condition performed by chorionic villus sampling, polymerase chain reaction, and restriction enzyme digestion.

Amyloid Neuropathies↗
PubMed1991

Hydatidiform mole and fetus with normal karyotype: support of a separate entity.

Repetitive hydatidiform mole was observed in four pregnancies. The pregnancies presented with heavy bleeding and vomiting, but the post-evacuation courses were uncomplicated, with rapid regression of serum hCG levels. Cytogenetic investigations, analyses of restriction fragment length polymorphisms, and flow cytometry in three pregnancies were consistent with diploid, biparental conception as the origin of fetal tissue and molar and nonmolar villi. In one pregnancy, the analyses of cytogenetic markers suggested the coexistence of two different cell lines of dizygotic, biparental origin, whereas DNA analysis was consistent with a single conception. With incomplete genetic information, a hydatidiform mole with coexistent normal fetus is generally considered to result from dizygous twinning comprising an androgenetic complete mole and a normal conception. In the present gestations, the results based on several techniques applied on numerous samples from different tissues render this possibility unlikely. Some of the contradictions between histologic and cytogenetic classifications of hydatidiform mole may be explained by diploid, biparental partial mole, which seems to constitute a separate subgroup within hydatidiform mole. Following chorionic villus sampling or amniocentesis, continued pregnancy may be considered, depending on prenatal diagnosis including genetic marker analysis.

Adult↗
PubMed1989

Analysis of fetal loss after transcervical chorionic villus sampling--a review of 719 patients.

Chorionic villus sampling was performed under real-time ultrasonographic direction on a study group of 719 patients from September 9, 1985, through May 5, 1988. Follow-up of 714 of these patients who would have reached 28 weeks' gestation on September 1, 1988, revealed "an unintended" abortion rate of 4.1% by 20 weeks' gestation. Nine patients had a fetal loss less than 4 weeks after the procedure; 19 had losses up to 12 weeks after the procedure and before 20 weeks' gestation. This study revealed a significantly increased risk of fetal loss with an increase in the number of catheter insertions (p less than 0.001). The risk of fetal loss after one sampling attempt was 3%, 7.8% after two attempts, and 14.3% after three attempts.

Abortion, Spontaneous↗
PubMed1990

An evaluation of the chorionic villus sampling learning curve.

Prior studies have identified a correlation between the rate of fetal loss (subsequent to chorionic villus sampling) and the operator's level of experience. However, centers performing only modest numbers of procedures during the initial phase of their programs have reported loss rates similar to those of the more active diagnostic units. Our personal experience would suggest that a "learning curve" for chorionic villus sampling does exist but that fetal loss may be an insensitive end point with which to evaluate the impact of cumulative performance. In an attempt to quantify the learning curve that we have appreciated subjectively, a detailed analysis of our initial experience with chorionic villus sampling was undertaken. Between May 1988 and August 1989, a total of 185 procedures were accomplished consecutively by one operator and form the basis for this analysis. Transcervical (n = 82) and transabdominal (n = 103) techniques were used for posterior and anterior-fundal placental locations, respectively. Three pregnancy losses occurred and insufficient material for analysis was retrieved in five patients. We observed a significant reduction in the required number of placental aspirations during the study interval (p less than 0.001). When analyzed separately, consecutive performances of the transabdominal technique demonstrated a significant reduction in the mean number of placental passes (p less than 0.00001) along with more efficient sampling (increased sample weight/aspiration attempt; p less than 0.01). Although the fetal loss rate is a critical measure of safety and may directly be related to operator experience, other measures of expertise (e.g., single-pass success rate) may be more appropriate indicators of competence and may be useful to centers wishing to initiate their own chorionic villus sampling programs.

Abortion, Spontaneous↗