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PubMed1990

Initiating a chorionic villus sampling program. Relying on placental location as the primary determinant of the sampling route.

In initiating a chorionic villus sampling (CVS) protocol, we relied upon placental locations as the determinant in the choice of technique. An anterior or fundal location prompted a transabdominal (TA) CVS, while the transcervical (TC) approach was reserved for posterior placentas. A coaxial needle system was used for TA CVS (18-gauge, 15-cm guide needle and 20-gauge, 20-cm sampling needle), while TC CVS was accomplished with a 5.8-French, 27-cm polyethylene catheter. Between July 1988 and February 1989 our initial 118 procedures were performed for 115 consecutive pregnancies using this protocol. Testing indications and antenatal characteristics of the TA (n = 56) and TC (n = 63) groups were similar. One procedure failure occurred in the TC group, and a single aspiration was sufficient in 59% of the cases (TA, 30/55; TC, 39/63). In TC procedures an increased aggregate sample weight was observed as compared to TA cases (25.8 g vs. 16.9 g, respectively; P less than .001). This difference was not attributable to an increased number of placental aspirations in TC cases. One abnormal karyotype was observed (45X), and four pregnancy losses occurred (TC, 3; TA, 1). Using placental location to determine the choice of CVS technique appears to be feasible and may be associated with a lower failure rate during a facility's initial experience (when compared to reliance upon one technique alone). Trials comparing the safety of these two methods should consider placental location an independent variable before randomization.

Abdomen↗
PubMed2002

A second case of intrauterine growth retardation and primary hypospadias associated with a trisomy 22 placenta but with biparental inheritance of chromosome 22 in the fetus.

We report a case of severe intrauterine growth retardation (IUGR) and hypospadias in association with trisomy 22 diagnosed following chorionic villus sampling (CVS). Subsequent analysis of amniotic fluid cultures showed a normal male karyotype, 46,XY. As a previous case had been reported with similar abnormalities, in association with maternal uniparental disomy (UPD) 22, molecular studies were also performed. Microsatellite marker studies showed biparental inheritance. Follow-up studies after delivery showed a normal cell line in lymphocytes with the trisomy appearing to be confined to the placenta. The present case concurs with other earlier reports that maternal UPD for chromosome 22 has no impact on the phenotype. The features seen in the fetus are most likely the result of placental dysfunction due to trisomy, tissue-specific mosaicism and/or the effects of local growth restriction.

Adult↗
PubMedDate not supplied

Can preference scores for discrete states be used to derive preference scores for an entire path of events? An application to prenatal diagnosis.

The authors conducted a study exploring whether preferences for sequences of events can be approximated by preferences for component discrete states. Visual-analog-scale (VAS) and standard-gamble (SG) scores for a subset of the possible sequences of events (path states) and component temporary and chronic outcomes (discrete states) that can follow prenatal diagnostic decisions were elicited from 121 pregnant women facing a choice between chorionic villus sampling and amniocentesis. For individuals, preference scores for path states could not be predicted easily from discrete-state scores. Mean path-state VAS scores, however, were predicted reasonably accurately by multiple regression models (R2 = 0.85 and 0.82 for two different anchoring schemes), with most measured scores lying within the 95% confidence intervals of the derived scores. It is concluded that, for individual patient decision making, preferences for path states should be elicited. When mean preference values for a population are sought, however, it may be reasonable to derive regression weights from a subset of respondents and then to apply those weights to preferences for discrete states elicited from a larger group.

Adult↗
PubMed1989

Chorionic villus sampling (CVS). Randomized study of efficacy of two transcervical biopsy methods: aspiration canulas and small forceps.

A randomized study of two transcervical biopsy methods was performed. One method involved the use of an aspiration catheter and the other a tissue biopsy forceps. 120 chorionic villus samplings were performed in 30 patients. The percentage of success in taking biopsies and the resulting number of karyotypes were identical in both groups. The amount of removed trophoblastic tissue was greater when the forceps was employed. When the aspiration catheter was used, a sufficient amount of trophoblastic tissue was obtained for karyotyping purposes. It was easier to insert the aspiration catheter than the forceps. The echogenicity of the catheter and forceps were identical. The aspiration catheter has two advantages. Firstly, it is malleable and fits to the anatomy of the cervical canal and the site from which the biopsy is to be taken. Secondly, it is disposable.

Adolescent↗
PubMed1991

Acceptance of chorionic villus sampling in the southwest region of The Netherlands: a 5-year evaluation.

The acceptance of chorionic villus sampling (CVS) for monitoring pregnancies at risk for chromosomal and genetic disorders was studied from its introduction in the Centre for Clinical Genetics in Rotterdam in 1984 until 1988. Special attention was given to increasing acceptance in the group with advanced maternal age (AMA) (12.6% CVS in 1984, 52.2% CVS in 1988) and the group with a high genetic risk (HGR) (42.7% in 1984, 86.7% in 1988). The odds-growth-rate in CVS was 1.64 and 1.67 respectively, which was not significantly different. The relatively limited use of CVS at AMA is most likely determined by the fact that a considerable number of patients are referred too late in pregnancy to have the option of CVS.

Amniocentesis↗
PubMed1994

Transabdominal chorionic villus sampling and amniocentesis for prenatal diagnosis: 5 years' experience at a university centre.

The fetal loss rates and fetal congenital birth defects in 821 transabdominal (TA) chorionic villus sampling (CVS) and 771 amniocentesis (AC) cases were evaluated from a 5-year period (1987-1991) at the University Central Hospital of Turku. The parents were given the option of choosing between the two sampling procedures. CVS was performed, in most cases, at 11 weeks of gestation; and AC, at 15 weeks. The rate of total post-procedure loss was 6.7 per cent in the CVS group and 4.4 per cent in the AC group (p = 0.08). The rate of spontaneous abortions was 1.9 per cent in the CVS group and 1.0 per cent in the AC group (p = 0.10). The number of birth defects was low in both study groups. No limb reduction cases were observed. Mosaicism was noted in 14 CVS cases and in five AC cases. We conclude that TA-CVS is a safe and practical alternative to AC in prenatal fetal karyotyping.

Abdomen↗
PubMed1999

Chorionic villus sampling in multiple pregnancies.

OBJECTIVE: To evaluate the accuracy and risk of chorionic villus sampling (CVS) for prenatal diagnosis in multiple pregnancies. METHOD: Twenty-eight chorionic villus samplings were carried out in a group of women with twin pregnancies. A transabdominal route was chosen in 24 samplings and the rest (four samplings) were carried out in a transcervical route. In the group of women with triple pregnancies, 14 tests were performed in a transabdominal route and one in a transcervical route. RESULTS: No sampling failure occurred. One laboratory failure occurred in a triplet pregnancy, and one abnormal karyotype (47,xy+18) was found in the group of 28 twin fetuses. The rest of the fetuses in this group had normal karyotypes. Of the five triplets, two chromosomal abnormalities were diagnosed: a mosaic 46,xy/47,xxy was found in both cases. One fetus was affected by fragile -x syndrome. Selective reduction of the affected fetuses was carried out. There was no spontaneous fetal loss. Fetuses which were found to have normal prenatal tests were also found to be normal when born. CONCLUSION: In this relatively small series of CVS in twins and triplets, the procedure has been proven to be safe and reliable for prenatal diagnosis.

Adult↗
PubMed2002

Procedural risks versus theology: chorionic villus sampling for Orthodox Jews at less than 8 weeks' gestation.

OBJECTIVE: According to Orthodox Jewish law, abortion is only permitted before 40 days post conception. This evaluation was performed to determine the feasibility and safety of performing chorionic villus sampling (CVS) at 7 to 8 weeks' gestation so that genetic results would be useful for these patients. STUDY DESIGN: We evaluated a sequential series of 82 Orthodox Jewish patients who chose CVS at <63 days' gestation. Outcome measures included procedure success rates, laboratory success rates, pregnancy outcomes, and complications. RESULTS: CVS was successful in all cases. Ninety-one percent were performed transcervically, with 30% requiring 2 or more insertions. Abnormal results were found in 16 (20%). Of 61 cases with normal genetic and ultrasound results, spontaneous losses at less than 28 weeks occurred in 3 (5%). These rates are higher than the 2.3% loss rate and the 1.2% multiple insertion rate seen at our center when sampling is performed at the usual gestational ages of 10 to 12 weeks. One baby had a severe limb reduction defect (1.6%). CONCLUSION: In very experienced hands, CVS can be safely and reliably performed at very early gestational ages. The ability to obtain an early diagnosis may be associated with increased but acceptable complication rates, including a 1% to 2% risk of limb reduction defects. There are patients for whom the usual paradigms do not suffice, and obtaining an early disgnosis provides them the opportunity to trade increased risks for reproductive choice. The ethical issues are complex, but such decisions can be supported by extensive and detailed informed consent.

Abortion, Spontaneous↗
PubMed2001

Prenatal diagnosis of trisomy 20 by chorionic villus sampling (CVS): a case report with long-term outcome.

A case of prenatally diagnosed non-mosaic trisomy 20 in cells cultured from a chorionic villus sample (CVS)is presented. The term placental karyotype was also non-mosaic trisomy 20. The karyotype of the newborn was 46,XY/47,XY,+20 in foreskin cultures and in a second skin culture; blood lymphocyte culture was 46,XY. Aside from diffuse, hypopigmentary swirls along the lines of Blaschko observed on his extremities and trunk, referred to as hypomelanosis of Ito, the patient is clinically normal at 8 3/4 years of age. In addition, he is one of the oldest reported cases of mosaic trisomy 20 confirmed after birth for which the clinical outcome has been monitored. This case demonstrates that these trisomy 20 findings are compatible with normal psychomotor development and phenotype.

Adult↗
PubMed1994

Prenatal diagnosis of xeroderma pigmentosum and Cockayne syndrome.

In a study of fetal cells from a series of 12 pregnancies in ten families at risk for the ultraviolet light-sensitive, DNA repair-deficient diseases xeroderma pigmentosum (XP) and Cockayne syndrome (CS), we detected one XP and two CS homozygote fetuses. The diagnoses were confirmed by analysis of fetal skin fibroblasts or second amniotic samples after termination of the pregnancies. The measurement of ultraviolet light sensitivity and DNA repair depended on properties common to the seven excision repair-deficient XP complementation groups (A-G) and the two CS complementation groups (A, B). No XP variant families were included in the study, because the variant requires different testing techniques. Reliable and rapid diagnosis proved possible in all but one of the 12 pregnancies, supporting the use of these methods until the spectrum of mutations in the various XP and CS genes of the U.S. population is fully characterized and a DNA sequence-based diagnostic procedure becomes available.

Amniocentesis↗
PubMed1996

Prenatal diagnosis of beta-thalassaemia and sickle cell anaemia in Turkey.

This paper reports our experience of molecular analysis and diagnosis of beta-thalassaemia and sickle cell anaemia (HbS) in 70 prospective parents of Turkish descent and their fetuses. Molecular screening was carried out by allele-specific oligonucleotide (ASO) hybridization of amplified DNA to the 12 most common mutations in the Turkish population. By using this approach, we were able to define the mutation in 95 per cent of chromosomes investigated. Genomic sequencing led to the additional detection of three rare mutations: Cd 44 (-C), IVS-I-5 (G-C), and IVS-I-116 (T-G). All diagnoses were successfully accomplished and no misdiagnosis occurred. Consanguineous marriage appears to contribute significantly to the frequency of affected births in Turkey. Out of the 14 homozygous fetuses, six were the result of close consanguinity. This study indicates that fetal diagnosis of beta-thalassaemia and HbS may be obtained in practically all cases, even in a heterogeneous population like the Turkish population, when early methods of fetal sampling are combined with polymerase chain reaction (PCR)-based techniques. Until gene therapy becomes a reality, the only approaches to the control of haemoglobinopathies are prevention and avoidance. The most relevant and common aspects of the programmes, which have been very effective in reducing the birth rate of beta-thalassaemia major in several at-risk areas of the Mediterranean basin, are the continuous educational campaigns directed at the population at large, the voluntary basis, and non-directive counselling. The most important challenge for the eradication of the haemoglobinopathies in Turkey is the organization of a nation-wide and comprehensive genetic preventive programme based on DNA technology.

Anemia, Sickle Cell↗
PubMed1991

Chorionic villus sampling for fetal karyotyping in missed abortions.

Chorionic villus sampling (CVS) was performed in 12 pregnant women (9-25 gestational weeks) with ultrasonographic evidence of missed abortion. An ultrasonographically guided transabdominal (eight cases) or transcervical (four cases) approach was used. Fetal karyotyping was successful in all cases; in five, chromosomal aberrations were found and in seven, chromosome analyses revealed normal karyotypes. Tissue culture for fetal karyotyping was successful in only 72.5 per cent of 40 live pregnancies which were electively interrupted because of abnormal ultrasonographic findings or an abnormal fetal karyotype, and in 57 per cent of seven missed abortions. CVS is suggested as a feasible and effective method for fetal karyotyping in missed abortions and it seems to be superior to post-abortion tissue culture.

Abortion, Missed↗
PubMed2005

Invasive prenatal diagnostic techniques.

As aneuploid screening evolves to the first trimester a complimentary diagnostic procedure becomes increasingly important. Chorionic villus (CVS) sampling has emerged as the only safe invasive prenatal diagnostic procedure prior to the 14(th) week of gestation. Over 2 decades of experience have demonstrated the accuracy, efficacy and safety of CVS. The karyotype is identical to that of the fetus in over 98% of cases. In the remaining 1 to 2% confined placental mosaicism (CPM) occurs. Current knowledge of the etiology of CPM allows accurate clinical interpretation, the recognition of cases of fetal uniparental disomy, and identification of pregnancies at risk for poor perinatal outcome. Prospective comparative studies have demonstrated that with equally experienced operators, CVS and second trimester amniocentesis have similar procedure induced miscarriage rates. When CVS procedures are performed after 10 weeks gestation, no increased risk of fetal anomalies has been demonstrated.

Aneuploidy↗
PubMed2001

Molecular prenatal diagnosis in families with fetal mitochondrial trifunctional protein mutations.

OBJECTIVES: To evaluate the feasibility of molecular prenatal diagnosis in families with mitochondrial trifunctional protein (TFP) mutations and prospectively study the effects of fetal genotype on pregnancy outcome. TFP catalyzes the last 3 steps in mitochondrial long-chain fatty acid oxidation. STUDY DESIGN: We performed molecular prenatal diagnosis in 9 pregnancies, 8 in 6 families with isolated long-chain 3-hydroxyacyl-coenzyme A dehydrogenase (LCHAD) deficiency and one in a family with complete TFP deficiency. Analyses were performed on chorionic villous samples in 7 pregnancies and on amniocytes in 2. RESULTS: Molecular prenatal diagnosis successfully identified the fetal genotype in all 9 pregnancies. Two fetuses were affected, and both pregnancies were terminated by family decision. Two other fetuses had normal genotype and 5 others were heterozygotes. These 7 pregnancies were uncomplicated, and all the offspring are alive and apparently healthy. Genotypes of the aborted fetuses and neonates were confirmed by molecular analysis and enzymatic assays. CONCLUSIONS: Molecular prenatal diagnosis is possible and valid in guiding management of pregnancies in families with known TFP defects. Women heterozygous for TFP alpha-subunit mutations who carry fetuses with wild-type or heterozygous genotypes have uncomplicated pregnancies.

Amniocentesis↗
PubMed2006

First-trimester prenatal diagnosis in haemophilia A and B families--10 years experience from a centre in India.

During the last 10 years (1995-2005) we have offered diagnosis in 438 families out of 502 families referred, by chorionic villus sampling procedure between 10 and 12 weeks of pregnancy in severe haemophilia A and B families. Sixty four families could not be offered a diagnosis in the first trimester either due to non-informativeness with the available techniques or due to the absence of affected members in the family and were subsequently offered diagnosis in the second trimester by direct analysis of factor VIII/IX clotting activity and antigen in the fetal blood samples. For first-trimester diagnosis in the chorionic villus samples, we have used both direct and indirect methods, that is, intron 22 and 1 inversions in the factor VIII gene, a multiplex PCR for the detection of gross deletions in the factor IX gene and RFLP analysis using a battery of markers within and outside the factor VIII/IX gene. The informativeness of all these techniques was found to be 92.21% in case of haemophilia A and 83.91% in case of haemophilia B. We followed up 122 children out of 326 (diagnosed unaffected prenatally) after birth and the diagnosis was adequately reconfirmed by both factor assays and by DNA analysis. Only one case of misdiagnosis was detected so far (0.22%), where the diagnosis was based only on the extragenic marker of the factor VIII gene.

Chorionic Villi Sampling↗
PubMed1993

Cytogenetic diagnoses after chorionic villus sampling are less reliable in very-high-or very-low-risk pregnancies.

An increasing number of cytogenetic prenatal diagnoses are performed on chorionic villus samplings. The accuracy of this method is influenced by chromosomal mosaicism, mostly confined to direct preparation methods. Especially those investigators who have experienced false-negative and false-positive findings propagate the combined use of direct and culture methods. Yet large collaborative studies have shown that in approximately two-thirds of diagnostic cases only one procedure is applied. Moreover, the accuracy of a cytogenetic investigation depends not only on the ontogenetic origin of the tissues investigated, but also on interacting factors such as the 'a priori risk' and the 'predictive value of a cytogenetic finding'. On this basis a differentiated prenatal diagnostic procedure is discussed, including either sole short-term culture (STC), combined STC and long-term culture (LTC), primary amniocentesis (AC), or primary percutaneous umbilical blood sampling (PUBS). The predictive value of the cytogenetic diagnosis from CVS varies significantly dependent on the a priori risk of a chromosome aberration and, in the case of an abnormal karyotype, on the specific chromosome involved. A non-mosaic and 'non-lethal' trisomy detected in STC is highly representative of the embryo/fetus, but there are exceptions of limited predictive value, e.g., trisomy 18. Guided by the strategy of an optional follow-up by LTC, AC, or PUBS in 1317 successive CV samplings, we are not aware of a false-negative diagnosis, but probably had one false-positive diagnosis: 47,XXY after STC; 46,XY after LTC. When referring to the rate of fetuses with an unbalanced karyotype expected in the different indication groups, a relative increase of false-positive findings in the very-low-risk group (maternal age < or = 35 years of age) and of false-negative findings in the very-high-risk group (abnormal ultrasonographic findings) of pregnant women when only performing CVS becomes obvious. Because of this dilemma, AC or--especially in the latter group--PUBS might be primarily offered to these indication groups instead of CVS.

Adult↗
PubMed1997

Randomised study of risk of fetal loss related to early amniocentesis versus chorionic villus sampling.

BACKGROUND: Several cohort studies have shown the feasibility of early amniocentesis (between 11 and 13 weeks of gestation) as an alternative to chorionic villus sampling (CVS) for karyotyping, but the only completed randomised study of fetal safety showed a significant fetal-loss risk related to first-trimester amniocentesis. We assessed fetal safety in early amniocentesis and CVS. METHODS: We assessed early amniocentesis at 11-13 weeks gestational age compared with the fetal risk associated with CVS at 10-12 weeks. 1160 pregnant women were randomly assigned one procedure (581 early amniocentesis, 579 CVS) after a baseline ultrasound examination at 10 weeks' gestation and were followed up until birth. Total fetal loss and neonatal morbidity were the primary outcome measures. Sampling success and pregnancy complications were secondary outcomes. We used a filter to increase the cell yield in the early amniotic-fluid samples. CVS was transabdominal. FINDINGS: We found a significantly increased occurrence of talipes equinovarus in the early amniocentesis group (p < 0.01), the risk of which was associated with sampling at the earliest gestational ages and with temporary leakage of amniotic fluid after sampling. Therefore, the trial was stopped early, which reduced the power of the safety study. 4.8% (27) of fetuses in the CVS group and 5.4% (30) in the early amniocentesis group were lost after randomisation (p = 0.66). More detailed survival analysis did not show any significant differences in fetal loss rates. Leakage of amniotic fluid after sampling occurred significantly more frequently after early amniocentesis than after CVS (p < 0.001), but we found no other major differences in pregnancy complications. Significantly more CVS than early amniocentesis procedures were repeated or failed to produce a karyotype (p < 0.01). INTERPRETATION: Even though the numbers were small, we found an association between early amniocentesis and talipes equinovarus. We believe this association to be true, since it supports a trend in a similar randomised study. Our results show that early amniocentesis, when done with the filter technique, is associated with an abortion risk similar to CVS, although the limited size of our study population reduced the strength of this conclusion.

Abortion, Spontaneous↗
PubMed1992

Reproductive behaviour following spontaneous loss of pregnancy after prenatal diagnosis.

One hundred and fifty-eight women of advanced maternal age with complete follow up who experienced spontaneous fetal loss after prenatal diagnosis were studied for reproductive behaviour as well as prenatal diagnosis in a subsequent pregnancy. A higher rate of subsequent pregnancies amongst women who experienced an early spontaneous abortion after chorionic villus sampling (CVS) was expected compared with women who lost a pregnancy later during pregnancy after amniocentesis. Of the 92 women who underwent CVS in a previous pregnancy, 57 (62%) became pregnant again. Of the 66 women who underwent amniocentesis in the pregnancy that ended in fetal loss, 34 women (52%) had a subsequent pregnancy. The cumulative incidence of subsequent pregnancies was significantly influenced by maternal age but not by parity or the method of prenatal testing. Most women who decided on a new pregnancy opted for prenatal diagnosis. There was a preference for amniocentesis if the patient had previously undergone CVS. However, the reverse was not the case.

Abortion, Spontaneous↗