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PubMedDate not supplied

Chorionic villus sampling: a 15-year experience.

The authors describe experiences gained over the period of 1984-1999 at two medical centers with chorionic villus sampling (CVS). Altogether 1,149 CVSs had been performed between the 10th and 32nd gestational weeks. Prior to 1993 the transcervical approach (TC-CVS), after 1994 the transabdominal method (TA-CVS) was used. Analysis of data collected within the framework of this study was based on the following factors: indications for sampling, complications and incidence of pregnancy loss. 91.6% of the CVSs were carried out for the purposes of cytogenetic examination of the fetus. Over the past few years an increasing number of procedures had been carried out for molecular-genetic tests (7.6% of the total number of cases). Though the primary indication for cytogenetic tests was the advanced age of the mother, a remarkable increase in the number of samplings had taken place for the purpose of examining "suspicious ultrasound findings", minor anomalies detected by ultrasound. In this group the proportion of pathological cases was significantly higher (14%) than in all the other samplings, carried out for other indications. This data in itself underlines the importance of ultrasound screening performed in the 18-20th weeks of gestation. Over the first half of the period being reviewed (1984-1993, TC-CVS), a fetal loss of 4.8% occurring within 3 weeks from the date of sampling, dropped to 1.7% in the period subsequent to year 1994 (TA-CVS). In cases of TA-CSV, both the complications and spontaneous abortions were fewer. In 74.1% of the cases studied, birth had taken place after the 37th week of gestation. Premature births (6.4%) and stillbirth rate (1.1%) did not exceed normal rates observed in the general population. On the basis of our results, it is safe to say that in prenatal diagnosis, TA-CVS is a real alternative method of mid-trimester amniocentesis and it is recommended for use at any stage of the pregnancy.

Adolescent↗
PubMed1993

Should all pregnant patients be offered prenatal diagnosis regardless of age?

OBJECTIVE: To assess the acceptance of prenatal genetic diagnosis by patients younger than 35 years old who are therefore not yet at great risk for non-disjunction trisomies based on maternal age. METHODS: The patients were counseled regarding the following: 1) the age-related risk of chromosomal abnormalities, 2) the procedure-related risk of fetal loss, 3) clinical implications of chromosomal abnormalities, 4) the need for complete counseling by a certified genetic counselor, and 5) the patient expense of $600-1200 if third-party reimbursement was not available. Patients were recruited from the private practice of the senior author at the New York Hospital--Cornell Medical Center. Five hundred ninety-one patients were offered prenatal genetic diagnosis. The outcome measure was the patient's decision to undergo prenatal diagnosis even though the risk of a non-disjunction trisomy was expected to be low based on maternal age. Amniocentesis was performed in 128 patients and chorionic villus sampling in five. RESULTS: One hundred thirty-three patients (22.5%) chose prenatal diagnosis. Karyotype was obtained in 131 procedures, but two were unsuccessful. One of the 131 karyotypes was abnormal and the patient chose to terminate the pregnancy. CONCLUSIONS: The data showed the following: 1) Inappropriate influence of patients by the health provider was not evident; 2) routine offering of genetic diagnosis enhanced the autonomy of pregnant women; 3) the potential increase in the loss of pregnancies that accompanies this practice is ethically justified; and 4) there are no compelling cost-benefit objections to such a practice.

Adolescent↗
PubMed2001

Follow-up investigations in uncultured amniotic fluid cells after uncertain cytogenetic results.

Fluorescence in situ hybridization (FISH) on uncultured amniotic fluid (AF) cells is a widespread technique for the rapid prenatal detection of specific chromosome aberrations. During a 6-year period (1993-1998) we used FISH for quick follow-up investigations in uncultured AF cells after finding an uncertain chromosome aberration in a first chorionic villus (CV) or AF sample in 79 cases. These FISH results were compared with conventional cytogenetic results of the AF cell cultures in all cases. We found discrepant FISH and cytogenetic results in four instances. In general, FISH on uncultured AF cells proved to be a reliable technique for the rapid differentiation between confined placental mosaicism and true fetal mosaicism, and between pseudomosaicism and true mosaicism, respectively. Uncultured cells may sometimes even better reflect chromosomal mosaicism than cultured cells, since they are not subject to culture induced selection mechanisms. However, we found evidence that exceptional cases of tissue confined mosaicism may go undetected in uncultured cells.

Amniocentesis↗
PubMed1989

Prenatal diagnosis of Lesch-Nyhan syndrome: experience with three fetuses at risk.

Our experience with the prenatal detection of the Lesch-Nyhan syndrome (LNS; hypoxanthine-guanine phosphoribosyltransferase (HGPRT) deficiency) in three fetuses at risk is reported. Enzyme activities were measured in cultured amniocytes in two pregnancies, and in tissues and cultures obtained from chorionic villus sampling (CVS) in a third pregnancy. In all tissues the specific activities of HGPRT and adenine phosphoribosyltransferase (APRT) were determined and APRT/HGPRT ratios were calculated. In addition to the enzyme assays, the rate of purine synthesis de novo was assessed in the two amniocyte cultures, and the rate of [14C]hypoxanthine incorporation into nucleotides and sensitivity to azaguanine were measured in one of the amniocyte cultures. We report the diagnosis of normal fetuses by study of amniocytes in two pregnancies and of LNS using CVS in one pregnancy. In all three cases the diagnosis was confirmed.

Adenine Phosphoribosyltransferase↗
PubMed1990

Risks of transabdominal chorionic villus sampling before the 12th week of amenorrhea.

The authors report on a series of 210 chorion villus sampling diagnoses made with a needle by the transabdominal route. The rate of fetal loss was 4.2 per cent. Placental localization was important: fetal losses were 8 per cent when the placenta was strictly posterior (transamniotic route), whereas it was only 1.6 per cent when it was not posterior. Moreover, all fetal losses occurred (apart from one at 12.5 weeks of amenorrhea) before the 12th week of amenorrhea. The authors suggest that choriocentesis by the transabdominal route should not be performed before the 12th week of amenorrhea, and that the amniotic membrane should not be disturbed before the 13th week of amenorrhea.

Abdomen↗
PubMed1991

Chorionic villus sampling: analysis of fetal losses to delivery, placental pathology, and cervical microbiology.

A population of 1639 patients were seen for chorionic villus sampling (CVS). Embryonic death was identified at ultrasound in 5.3 per cent of patients. The number of patients undergoing CVS was 1551, with 1416 transcervical procedures and 135 transabdominal procedures. The most common indication for CVS was advanced maternal age. Spontaneous pregnancy losses identified by increased risk of pregnancy loss with increasing aspiration attempts. The total fetal loss for this population was 5.4 per cent with the pregnancy loss estimated due to procedure being 1.2 per cent. Analysis of placentae from patients having CVS and amniocentesis showed no differences. Microbiological assessment prior to CVS was similar to previous publications.

Adult↗
PubMed1997

Mutation-based prenatal diagnosis of Herlitz junctional epidermolysis bullosa.

Epidermolysis bullosa (EB) is a group of heritable diseases which manifest with blistering and erosions of the skin and mucous membranes. Due of life-threatening complications and significant long-term morbidity associated with the severe, neonatal lethal (Herlitz) form of junctional EB (H-JEB), there has been a demand for prenatal diagnosis from families at risk for recurrence. Previously, the only reliable method of prenatal diagnosis of EB was a fetal skin biopsy performed at 16-20 weeks' gestation and analysed by electron microscopy. Recently, the genes LAMA3, LAMB3, and LAMC2, encoding the polypeptide subunits of laminin 5, an anchoring filament protein, have been shown to contain mutations in H-JEB. In this study, direct detection of pathogenetic mutations in the laminin 5 genes was used to perform polymerase chain reaction (PCR)-based prenatal testing. DNA was obtained by chorionic villus sampling (CVS) at 10-15 weeks or amniocentesis at 12-19 weeks' gestation in 15 families at risk for recurrence of JEB. In 13 cases, the fetus was predicted to be either genetically normal or a clinically unaffected carrier of a mutation in one allele. These predictions have been validated in all cases by the birth of a healthy child. In two cases, an affected fetus was predicted, and the diagnosis was confirmed by subsequent fetal skin biopsy. These results demonstrate that DNA-based prenatal testing offers an early, expedient, and accurate method of prenatal diagnosis or an exclusion of Herlitz JEB.

Amniotic Fluid↗
PubMed1993

Randomized trial comparing first-trimester transcervical chorionic villus sampling and second-trimester amniocentesis.

A total of 800 patients were randomized at the 9th to 11th week of pregnancy either for transcervical chorionic villus sampling (CVS) on the day of trial entry or for amniocentesis (AC) at the 16th week. The indication for fetal karyotyping was maternal age in 94 per cent of the cases; the mean maternal age was 39.2 years. An adequate sample was obtained in 98.3 per cent of the cases in the CVS group and in all cases in the AC group. Retesting was indicated in 3.3 per cent of the CVS cases. An abnormal karyotype was found in 6.1 per cent of the CV samples and in 4.5 per cent of the amniotic fluid samples. There was one false-positive chromosome result in both groups. Twelve (3.1 per cent) miscarriages occurred by the 22nd week of pregnancy in the CVS group in pregnancies intended to continue. No difference was seen between the groups for total fetal loss rates. The number of surviving infants in the CVS group was 92.2 per cent and in the AC group 91.7 per cent (rate difference 0.5 per cent (95 per cent confidence interval -3.3 to 4.3)). In our study, both the diagnostic accuracy and the risk of fetal loss were equal in the CVS and AC groups.

Abortion, Spontaneous↗
PubMed1995

Subendometrial myometrial contractions associated with transcervical chorionic villous sampling.

Thirty-two consecutive patients, referred for prenatal diagnosis by chorionic villous sampling, were examined by transvaginal ultrasound for the presence of myometrial contractions before and after the procedure. Increased myometrial activity was observed in 78% of patients. The mean frequency increased by 3.5 times and the amplitude increased by 4.2 times compared to the preprocedure condition. Cramping was associated with the increased amplitude and/or frequency of contractions. No significant correlation was found between the direction of propagation of the contraction wave and its frequency or amplitude. The sensitivity of ultrasonographically detected myometrial contractions in predicting cramping is 70%, but only 31% in predicting vaginal bleeding or spotting. Further studies are required to elucidate the prognostic significance of this uterine activity.

Adult↗
PubMed2001

Psychological distress before and after prenatal invasive karyotyping.

BACKGROUND: The aim was to evaluate the psychological and physical impact on women submitting to early amniocentesis or chorionic villus sampling and their preferences concerning fetal invasive procedures in a forthcoming pregnancy. METHOD: Fifty-one women undergoing early amniocentesis or chorionic villus sampling at 10-13 weeks gestation participated. The women completed questionnaires including the Hospital Anxiety and Depression Scale on three occasions: before, immediately after, and one week after the invasive procedure. RESULTS: The women were more concerned about a spontaneous abortion and waiting for the result than about a possible unreliable result. A majority of the women did not worry about the risk of fetal injury induced by the procedure. More women in the chorionic villus sampling group found the invasive procedure to be physically straining. Two-thirds of the women experienced no or minor psychological strain but one-third experienced major strain. Approximately 20% were classified as doubtful cases and cases of clinical anxiety. Nearly all women would choose to have an invasive procedure of the same kind in a forthcoming pregnancy. CONCLUSIONS: The psychological and physical impact on women undergoing invasive procedures for fetal karyotyping does not constitute a major clinical problem. However, a certain number of women report distress and anxiety which should be attended to by professionals involved in fetal invasive procedures. These women may benefit from more support.

Adult↗
PubMed1992

Chorionic villus sampling: experience with 3016 cases performed by a single operator.

OBJECTIVE: To describe our experience with 3016 first-trimester chorionic villus sampling (CVS) procedures, all performed by a single operator, to assess the influence of operator experience on the safety and efficacy of CVS. METHODS: Transcervical or transabdominal CVS procedures were performed on 3016 patients between the gestational ages of 9-12 weeks. The sampling success rate, procedure complications, cytogenetic results, and pregnancy outcomes were tabulated and analyzed. RESULTS: Samples adequate for diagnosis were obtained in 99.7% of the cases. The mean (+/- standard deviation) number of insertions per procedure was 1.1 +/- 0.4. The percentage of procedures in which the sample was obtained with a single insertion increased from 51% in the first 100 cases to 96% in the last 2516 cases. There were 56 (1.94%) first- and second-trimester pregnancy losses among 2892 pregnancies intended to continue. This loss rate compares with published baseline risk figures for miscarriage of approximately 2-3%. No difference in pregnancy loss rate followed one or two catheter or needle insertions, but the need for three insertions was associated with a significantly increased loss rate (6.7 versus 1.9%; chi 2 = 4.35, P < .05). CONCLUSION: Operator experience plays a significant role in the safety and efficacy of CVS.

Abortion, Spontaneous↗
PubMed1994

Umbilical artery velocity waveforms before and after chorionic villus sampling.

Because a vascular aetiology has been suggested for the limb and oromandibular defects described after chorionic villus sampling (CVS), to determine whether transabdominal (TA) CVS causes noticeable changes in umbilical artery velocity waveforms in first-trimester pregnancies, the pulsatility index (PI) of the umbilical artery was evaluated before and after TA-CVS in 175 pregnancies sampled between 10.0 and 13.0 weeks' gestation. In 139 uncomplicated pregnancies, the mean PI values (with 95 per cent confidence interval) were before TA-CVS 2.751 (2.692-2.809), after 10 min 2.723 (2.697-2.809), and after 1 h 2.781 (2.722-2.840). There were no significant changes in PI relative to the CVS procedure either in pregnancies with an abnormal result or in those ending in spontaneous abortion. Our data do not support any statistically significant change in umbilical artery PI relative to TA-CVS in first-trimester pregnancies. This procedure, despite its invasive character, does not appear to affect the feto-placental circulation.

Adult↗
PubMed1991

In utero diagnosis of congenital varicella zoster virus infection by chorionic villus sampling and polymerase chain reaction.

Varicella zoster virus infection acquired in pregnancy is reported to cause fetal damage in 5% to 10% of cases. We used polymerase chain reaction to attempt molecular diagnosis of fetoplacental varicella zoster virus infection in two patients. Tissue obtained by chorionic villus sampling in the second trimester was analyzed by polymerase chain reaction with a varicella zoster virus-specific primer, ORF-63, and was found to be positive in both patients. Viral cultures were negative. One patient elected pregnancy termination at 23 weeks. Southern blot hybridization of neonatal brain tissue for varicella zoster virus was negative. The second patient carried the pregnancy to term and was delivered of a normal infant. Varicella zoster virus immunoglobulin M and viral cultures were negative. The presence of viral deoxyribonucleic acid sequences in placental tissue does not correlate with fetal disease.

Adolescent↗
PubMed1996

Prenatal and postnatal prevalence of Turner's syndrome: a registry study.

OBJECTIVE: To study prevalence of Turner's syndrome in Denmark and to assess validity of prenatal diagnosis. DESIGN: Study of data on prenatal and postnatal Turner's syndrome in Danish Cytogenetic Central Register. SUBJECTS: All registered Turner's syndrome karyotypes (100 prenatal cases and 215 postnatal cases) during 1970-93. MAIN OUTCOME MEASURES: Prevalence of Turner's syndrome karyotypes among prenatally tested fetuses and Turner's syndrome among liveborn infants. RESULTS: Among infant girls, prevalence of Turner's syndrome was 32/100,000. Among female fetuses tested by amniocentesis, prevalence of Turner's syndrome karyotypes was 176/100,000 (relative risk of syndrome, 6.74 compared with prevalence among untested pregnancies). Among female fetuses tested by chorion villus sampling, prevalence of syndrome karyotypes was 392/100,000 (relative risk, 16.8). We excluded prenatal tests referred because of results of ultrasound scanning: among fetuses tested by amniocentesis revised relative risk was 5.68, while revised relative risk among fetuses tested by chorion villus sampling was 13.3. For 29 fetuses with prenatal diagnosis of possible Turner's syndrome, pregnancy was allowed to continue and 24 children were live born. Thirteen of these children were karyotyped postnatally, and diagnosis of Turner's syndrome had to be revised for eight, seven being normal girls and one boy. This gives tentative predictive value of amniocentesis in diagnosing Turner's syndrome of between 21% and 67%. There was no significant relation between mother's age and risk of Turner's syndrome. CONCLUSIONS: Discrepancy between prenatal and postnatal prevalence of Turner's syndrome challenges specificity of prenatal examination in diagnosing Turner's syndrome.

Adolescent↗
PubMed1997

[Prenatal medicine: development, current status and future perspectives].

Prenatal diagnosis and therapy are based mainly on the progress of diagnostic ultrasound and laboratory methods in genetics. There is a general tendency to replace second trimester fetal diagnoses by first trimester approaches. Transvaginal sonography and chorionic villus sampling in particular have been proven helpful in this context. The aim of all prenatal diagnostic measures is fetal therapy in time to prevent untreatable abnormalities. There has been some progress in this area; in particular, the application of stem cells for the correction of single cell diseases seems to be promising. Because all prenatal interventions involve a risk to the mother and especially the fetus, there is a concentrated effort to develop non-invasive screening or diagnostic methods. Extensive work on the isolation of fetal cells from the maternal circulation has revealed that such cells are present physiologically in pregnancy, but further trials need to show whether this method is safe enough for routine diagnostic use.

Chorionic Villi Sampling↗
PubMed1992

Transabdominal chorionic villus sampling: fetal loss rate in relation to maternal and gestational age.

In this paper we report the fetal loss rate in relation to both maternal and gestational age in 1764 pregnant women who underwent transabdominal chorionic villus sampling (TA-CVS) between January 1986 and August 1990. The fetal loss rate, considered as a proportion of continuing pregnancies, decreased with advancing gestational age at sampling from 4.3 per cent before 9 weeks to 0.4 per cent at or after 13 weeks, the difference being statistically significant (p < 0.025). The fetal loss rate increased from 1.6 per cent in women under 30 to 2.4 per cent in women of 40 years or over, but the difference was not statistically significant. Considering that the total fetal loss rate before 28 weeks' gestation was on average 1.91 per cent (1.3 per cent under 35 years and 2.8 per cent in women of 35 or over), we believe that TA-CVS is a safe and effective technique for prenatal diagnosis of genetic diseases.

Adult↗
PubMed1995

First-trimester nuchal translucency and cardiac septal defects in fetuses with trisomy 21.

OBJECTIVE: Our purpose was to determine the incidence of cardiac septal defects in fetuses with trisomy 21 diagnosed by increased nuchal translucency thickness at 10 to 13 weeks' gestation. STUDY DESIGN: Pathologic examination of the fetal heart was performed in 36 fetuses with trisomy 21 after suction termination of pregnancy at 12 to 15 weeks' gestation. The diagnosis of trisomy 21 was made by chorion villus sampling because of increased (> or = 3 mm) fetal nuchal translucency thickness detected at routine first-trimester ultrasonographic examination. RESULTS: Perimembranous ventricular and atrioventricular septal defects were detected in 20 of 36 fetal hearts. A septal defect was observed in 1 of the 11 fetuses with nuchal translucency thickness of 3 mm and in 19 of the 25 with translucency > or = 4 mm (p < 0.001). CONCLUSION: The incidence of ventricular and atrioventricular septal defects is much higher in fetuses with trisomy 21 and increased nuchal translucency thickness at 10 to 13 weeks' gestation than in live-born infants with this chromosomal abnormality. The incidence of cardiac septal defects increases with nuchal translucency thickness.

Chorionic Villi Sampling↗
PubMed1991

Utility of the polymerase chain reaction (PCR) for prenatal diagnosis of genetic disease.

Gene amplification by the polymerase chain reaction (PCR) has been applied to prenatal diagnosis for alpha and beta thalassemias (1 and 5 cases respectively), Hemoglobin (Hb) Lepore/beta thalassemia (1 case) and cystic fibrosis (14 cases). Chorionic villus samples were obtained in the tenth week of pregnancy and DNA analysed in parallel with conventional gene mapping. Direct diagnosis of the common Mediterranean beta-thalassemia mutations (IVS-1-110 and codon 39), Hb Lepore, and the delta F508 mutation causing cystic fibrosis was achieved by hybridization of amplified material with pairs of allele-specific oligonucleotide (ASO) probes or by restriction enzyme digestion of PCR products. Results were confirmed by DNA mapping. Definitive diagnosis or exclusion of an affected fetus was possible in 17 of 21 cases thus examined. PCR reduces the time required for prenatal diagnosis. DNA contamination is a potential source of error.

Alleles↗