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PubMedDate not supplied

Age of gestation (size) at embryonic demise: tailoring counseling for lethal versus potentially viable aneuploidy.

The incidence of chromosomal abnormalities in spontaneous abortions is much higher than commonly appreciated. Using postmortem chorionic villus sampling (as we have previously described), our much increased yield of results allows us to divide embryos into two groups based upon potential viability. Embryonic size at the time of demise correlated with viability, i.e., the more 'viable' the embryo for term survival. Even in the absence of chromosomal results, the size of the embryonic pole can be used to infer, to a degree, the type of abnormality.

Adult↗
PubMed1991

[Data obtained by prenatal diagnosis of maternal age dependence of fetal chromosomal anomalies].

The connection between fetal chromosomal anomalies and advanced maternal age is well established. Theoretical calculations derived from incidence data and the expected ratio of Down's syndrome babies born to mothers between the age of 35-39 and from 40-45 indicate that fetal kariotyping is necessary at the maternal age of 35 or above. Based on 668 prenatal chromosomal studies (both on cultured amniotic cells and direct preparation of the trophoblast obtained by chorionic villus sampling) authors come to the conclusion that all pregnant women above the age of 35 should undergo fetal karyotyping (in order to detect 22% of the conceptuses with a chromosomal defect) since the incidence rate of abnormal fetal karyotype was found 6.08% between 35-39 years, and 8.49% between 40-45 years of maternal age. To achieve this target about 7500 prenatal karyotyping should be performed per year the laboratory and clinical backgrounds of which should be created.

Chorionic Villi Sampling↗
PubMed1994

Incidence of bacteremia associated with chorionic villus sampling.

OBJECTIVE: To assess the frequency of transient bacteremia among women undergoing transabdominal and transcervical chorionic villus sampling (CVS). METHODS: One hundred fourteen women undergoing CVS consented to participate in a university review board-approved study protocol. Exclusion criteria included known cardiac valve anomaly or replacement (or other prosthetic) and antibiotic use within the preceding 21 days. Blood cultures (aerobic and anaerobic) were drawn by a single operator on all patients, before CVS and within 15 minutes after completing CVS. Either the catheter tip or needle tip aspirate from each procedure was also sent for culture. RESULTS: Post-procedure bacteremia was detected in two (1.8%) of the patients undergoing CVS. These two patients both had their procedures performed transcervically, resulting in a 4.1% (two of 49) bacteremia rate after transcervical CVS, compared to none (zero of 65) in the transabdominal group (P = .36). The incidence of positive cultures from sampling instruments was also higher in the transcervical group (16.3 versus 0%; P = .003), but did not result in comparable rates of bacteremia among patients with positive instrument cultures. CONCLUSIONS: In this study, CVS was associated with a low rate of bacteremia, regardless of the procedure route. Recommendations for antibiotic prophylaxis in women with abnormal cardiac valves should parallel those for spontaneous vaginal delivery and other comparable genitourinary procedures.

Bacteremia↗
PubMed1996

Prenatal detection of two different monosomic cell lines by chorionic villus sampling.

We present a prenatal case of mosaicism with at least two monosomy cell lines: one with monosomy 21 (45,XY,-21) and one missing the Y (45,X) and a possible third 46,XY in chorionic villus cell culture. Cytogenetic studies were initiated following the ultrasound detection at 11 weeks of a large cystic hygroma and in utero growth retardation. Spontaneous fetal demise occurred at 12 weeks and the pregnancy was terminated. To our knowledge, this is the first report of two different monosomic cell lines found in chorionic villus cells.

Adult↗
PubMed1999

Prenatal diagnosis of Charcot-Marie-Tooth disease type 1A by interphase fluorescence in situ hybridization.

Charcot-Marie-Tooth Disease (CMT) is the most common cause of peripheral neuropathy, with an incidence of 1:2500 persons affected. Previously, we reported the use of fluorescence in situ hybridization (FISH) to detect the common submicroscopic duplication of 17p12 found in more than 98 per cent of individuals with CMT1A. We found that FISH is a reliable means for the diagnosis of the duplication of 17p12 in peripheral blood and reported the validation of the FISH assay for amniotic fluid specimens. Herein, we report the validation of the FISH assay for use on chorionic villus samples (CVS) to prenatally diagnose CMT1A duplications and the testing of 17 prenatal specimens. Seven fetuses were found to carry the duplication and are predicted to be affected. FISH is a rapid assay in prenatal specimens, with a 9.3 day average turn-around time. Limited follow-up on pregnancies indicates that the duplication found in CMT1A is reliably diagnosed in the fetus, using FISH on either amniotic fluid specimens or CVS.

Charcot-Marie-Tooth Disease↗
PubMed1994

Comparison of chorionic villus sampling and amniocentesis: current status of prenatal diagnosis in Japan.

Data were tabulated and compared for cases involving prenatal diagnostic procedures performed in the 8 years between January 1985 and December 1992. Of a total of 2781 pregnancies, 2546 cases (91.5 per cent) were diagnosed by amniocentesis, and 235 (8.5 per cent) by chorionic villus sampling (CVS). These findings reflect the fact that amniocentesis has taken deep root as the prenatal diagnostic procedure widely acknowledged by society, whereas even the existence of CVS has yet to be generally recognized. Analysis of our clinical and laboratory results and complication rates, however, suggests that CVS is a safe and accurate alternative to amniocentesis which should and can be positively presented to all patients who are candidates for prenatal diagnosis.

Amniocentesis↗
PubMedDate not supplied

Detection of chromosomal abnormalities using fluorescence in situ hybridization (FISH).

BACKGROUND: A number of studies have demonstrated the use of molecular cytogenetic techniques for clinical diagnosis. We compared the results of FISH analysis and conventional cytogenetics on different tissue samples for detection of chromosomal aberrations and to assess the utility of FISH assay for clinical diagnosis. METHODS: Karyotypic analysis was carried out on 50 samples--20 peripheral blood samples, 20 bone marrow samples and 10 prenatal (chorionic villi/amniotic fluid) samples. The same chromosome preparations were further subjected to FISH analysis using probes specific for chromosome X, Y, 21 or bcr-abl gene. RESULTS: The results of FISH analysis were in conformity with the cytogenetic results in all the samples except one. FISH analysis could reveal hybridization signals even on poorly spread metaphase chromosomes and interphase nuclei. It was also possible to detect subtle chromosomal aberrations which were not detected using conventional chromosomal analysis. CONCLUSION: FISH is a powerful, sensitive molecular cytogenetic technique which can be used as an adjunct to conventional chromosomal analysis for prenatal diagnosis and the diagnosis and management of cancer patients. FISH analysis should be used as a supplement to conventional cytogenetics.

Amniocentesis↗
PubMed2003

Chorionic villus sampling and amniocentesis: what are the risks in current practice?

PURPOSE OF REVIEW: Public demand for genetic counselling and prenatal diagnosis has increased during the past decade. As invasive diagnostic methods, such as chorionic villus sampling and amniocentesis, still have an important role to play in evaluating the fetus, one of the most important questions to address during genetic counselling is the procedure-related risk of these techniques. RECENT FINDINGS: The possible factors modifying the specific risk of the actual fetus are discussed, together with factors that have an impact on procedure-related fetal loss and other complications. Risk factors regarding twin pregnancies, first and second-trimester chorionic villus sampling, early and mid-trimester amniocentesis are discussed separately. New developments have recently occurred in the laboratory techniques used in prenatal diagnosis. Their impact on genetic counselling and the employment of invasive techniques are also addressed. SUMMARY: During genetic counselling, an individually tailored risk assessment needs to be established before any invasive procedure. This should take into account all the factors modifying the specific risk for aneuploidy or other disorders of the fetus, as well as the actual procedure-related risks.

Amniocentesis↗
PubMed2000

DNA methylation analysis with respect to prenatal diagnosis of the Angelman and Prader-Willi syndromes and imprinting.

The Angelman (AS) and Prader-Willi syndromes (PWS) are clinically distinct neurobehavioural syndromes resulting from loss of maternal (AS) or paternal contributions (PWS) of imprinted genes within the chromosomal 15q11-q13 region. The molecular diagnosis of both syndromes can be made by a variety of techniques, including DNA methylation, DNA polymorphism and molecular cytogenetic analyses. DNA methylation analysis at three major loci (ZNF127, PW71 and 5' SNRPN) has been successfully used for the postnatal diagnosis of AS and PWS. Methylation analysis, in contrast to other techniques, can reliably be used to diagnose all three major molecular classes (deletion, uniparental disomy and imprinting mutation) of PWS, and three of the four major classes of AS. In this study we demonstrate that methylation analysis can also be successfully used in prenatal diagnosis, by examining specimens obtained from amniocentesis and chorionic villus sampling. Correct prenatal diagnoses were obtained in 24 out of 24 samples using the 5' SNRPN locus; 4 out of 15 using the ZNF127 locus; and 10 out of 18 using the PW71 locus. Therefore, our data indicate that although the DNA methylation imprints of ZNF127 and 5' SNRPN arise in the germline and are present in brain, only 5' SNRPN maintains the imprint in tissues suitable for the prenatal diagnosis of AS and PWS.

Amniocentesis↗
PubMed1991

Antepartum fetal blood sampling with cordocentesis. Comparison with chorionic villus sampling and amniocentesis in diagnosing karyotype anomalies.

Cordocentesis under ultrasound guidance, or percutaneous umbilical blood sampling, was first reported in 1983 by Daffos et al. Since then the method has gained importance in prenatal diagnosis. In 1,011 cases at a women's clinic in Bonn, Federal Republic of Germany, 35% of the cordocentesis cases were done for blood group incompatibilities plus intravascular transfusion in most of the cases. In the remaining 65% the indications for cordocentesis were a rapid karyotype analysis, diagnosis of fetal infections and determination of fetal acid-base status in severe intrauterine growth retardation. Chorionic villus sampling (CVS) and amniocentesis were also performed to detect karyotype anomalies. Amniocentesis constituted 78.8% of the procedures and detected 50% of the karyotype abnormalities. Cordocentesis and CVS constituted 17.3% and 3.9%, respectively, of all the procedures and diagnosed 39% and 11%, respectively, of the abnormalities. Different forms of trisomy were the most common karyotype anomaly. Translocation was noted in 22 cases. Turner's, Klinefelter and triple X syndromes and triploidy were the next major forms.

Adult↗
PubMed1994

Chorionic villus sampling and transverse limb deficiencies: maternal age is not a confounder.

Advanced maternal age is a frequent indication for performing chorionic villus sampling (CVS) and it might be a confounder of the association between transverse limb deficiencies (TLD) and early CVS. We have first analyzed the maternal age-specific rates of TLD in the population monitored by the Italian Multicentric Birth Registry; then we updated a case control study controlling for maternal age. The rate of all limb deficiencies (LD) was 5.9 per 10,000 births. No trend for an excess risk for TLD or other LD with advancing maternal age was found. The relative risk for women 35 years of age and older vs. those under 35 was 0.92 (95% CI, 0.72-1.19) for any LD and 0.99 (95% CI, 0.71-1.39) for TLD. In the case control study, 11 mothers of case patients with a TLD had been exposed to CVS out of a total of 206 (5.3%), compared to 54 mothers of control patients with defects other than TLD out of a total of 12,140 (0.4%). The risk estimate for TLD associated with CVS was high in the overall analysis (OR, 12.63) and did not decrease after stratification, both in the overall sample (Mantel-Haenszel OR, 14.01) and in each gestational age stratum. Thus, advanced maternal age does not explain the association between CVS and TLD found in this study and it is unlikely to explain that observed in the several other positive studies. We recommend that any study addressing the relationship between CVS and LD should include a careful evaluation of the type of LD and the timing of CVS, and present the results for specific gestational age periods.

Adult↗
PubMed2004

Invasive fetal testing.

PURPOSE OF REVIEW: Research on prenatal diagnosis and invasive fetal testing has continued at a rapid pace. Several studies that will have a profound impact on the way prenatal care will be provided to pregnant women have been published in the literature during the last year. These publications will be reviewed and their impact described. RECENT FINDINGS: The main areas of interest in the recent literature covered in this review are first-trimester screening for aneuploidy, recent information on loss rates due to amniocentesis and chorionic villus sampling, and current work on invasive fetal therapy. SUMMARY: It appears that first-trimester screening is at least comparable if not superior in efficacy to second-trimester serum screening. This will be a test that will be utilized increasingly by both low and high-risk patients for aneuploidy. Of utility to a much smaller number of patients, invasive fetal therapy for meningomyelocele repair, twin-to-twin transfusion syndrome and fetal cardiac malformations is being evaluated in a scientifically more rigorous manner.

Amniocentesis↗
PubMed1997

Prenatal diagnosis of the fragile X syndrome: loss of mutation owing to a double recombinant or gene conversion event at the FMR1 locus.

The fragile X syndrome, an X linked mental retardation syndrome, is caused by an expanded CGG repeat in the first exon of the FMR1 gene. In patients with an expanded repeat the FMR1 promoter is methylated and, consequently, the gene is silenced and no FMR1 protein (FMRP) is produced, thus leading to the clinical phenotype. Here we describe a prenatal diagnosis performed in a female from a fragile X family carrying a large premutation. In chorionic villus DNA of the male fetus the normal maternal CGG allele and a normal pattern on Southern blot analysis were found in combination with the FRAXAC2 and DXS297 allele of the maternal at risk haplotype. A second chorionic villus sampling was performed giving identical results on DNA analysis and, in addition, expression of FMRP was shown by immunohistochemistry. We concluded that the male fetus was not affected with the fragile X syndrome. Subsequent detailed haplotype analysis showed a complex recombination pattern resembling either gene conversion or a double crossover within a 20 kb genomic region.

Alleles↗
PubMed1997

The effect of chorionic villus sampling on the number of fetal cells isolated from maternal blood and on maternal serum alpha-fetoprotein levels.

Fetal cells are present in the circulation of pregnant women and can be isolated using density gradient centrifugation and magnetic cell sorting. In the present study, maternal cell preparations were depleted for CD45- and CD14-positive cells and enriched for CD71-positive cells. The number of fetal nucleated cells was determined using fluorescence in situ hybridization for X and Y chromosomes. Analysis of maternal blood samples taken before and after transabdominal chorionic villus sampling (TA-CVS) showed an increase in the number of fetal cells in 10 out of 19 male pregnancies after the invasive procedure. This cellular transfusion was found to correlate with elevated maternal serum alpha-fetoprotein levels. TA-CVS-induced cellular transfusion may form a good in vivo system to optimize fetal cell isolation procedures and to study fetal cell dynamics and characteristics.

Adult↗
PubMed1990

[Cytogenetic analysis of chorionic biopsy samples in prenatal diagnosis of chromosome abnormalities].

Using original direct methods of shaking-imprinting and rapid sampling of metaphase and prometaphase chromosomes, a cytogenetic analysis has been performed in 80 diagnostic chorionic villus samples (CVS) in the first trimester. Chromosomal disorders were identified in 6 (7.5%) fetuses: Down's syndrome in 4, monosomy 18 in 1, and a short-arm deletion of chromosome 18 in 1. These pregnancies were terminated. The paper offers opportunities for reducing risks of transcervical CVS and widely applying first-trimester chromosomal analysis in a program of mass screening for chromosomal and genetic diseases.

Adult↗
PubMed1992

Distal limb deficiency following chorionic villus sampling?

We have reviewed the follow-up of almost 3000 completed pregnancies in the Münster CVS Program and identified 4 children with distal limb deficiencies. Two cases involved only minor anomalies of distal digital phalanges. One child had a Hanhart anomaly (hypoglossia hypodactylia). We also reviewed 24 cases of limb defects following CVS reported previously. With the exception of a single series, neither the overall incidence of affected children nor cases reported from larger series provide unambiguous evidence of an increased risk of distal limb deficiency caused by CVS.

Child, Preschool↗
PubMed1993

First-trimester alpha-fetoprotein screening for Down syndrome.

Screening for Down syndrome and other chromosomal aneuploidies by biochemical parameters in maternal serum is well established for the second trimester. With screening as late as 16 weeks of gestation, the option of chorionic villus sampling (CVS) unfortunately is lost. In our study population, the maternal serum alpha-fetoprotein (MSAFP) concentration was determined in 2471 women in the first trimester immediately prior to CVS. Although in this sample MSAFP tended to be lower in Down syndrome (DS) pregnancies than in pregnancies with a chromosomally normal fetus, at this early gestational age neither a fixed cut-off level of 0.5 multiples of the normal median (MOM) nor one of 0.6 MOM was suitable for identifying pregnancies at higher risk for DS. This also applied to trisomy 18, although on average MSAFP in trisomy 18 pregnancies was lower than in normal and DS pregnancies.

Chorionic Villi Sampling↗
PubMed1993

Serum PAPP-A measurements in first-trimester screening for Down syndrome.

Serum PAPP-A measurements taken from 254 women in the first trimester are reported. Eleven chromosomal abnormalities were detected. The mean serum PAPP-A levels in cases of Down syndrome were 0.44 MOM at 9 weeks gestation, 0.15 MOM at 10 weeks, and 0.29 MOM at 11 weeks. The PAPP-A level at 10 weeks was below those of pregnancies which aborted spontaneously. At 11 weeks, the pregnancies with Down syndrome recorded the lowest PAPP-A levels at that gestation. On this small sample, offering chorionic villus sampling to women with singleton pregnancies and a PAPP-A level below 0.3 MOM (approximately 6.5 per cent of this at-risk group) would have detected all the Down syndrome fetuses at 10 weeks and 50 per cent at 11 weeks without selecting those cases destined to abort. This suggests that serum PAPP-A should continue to be investigated as a potential first-trimester screening test for Down syndrome.

Adult↗