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PubMed2003

Molecular genetic prenatal diagnosis for a case of autosomal recessive spondylocostal dysostosis.

Autosomal recessive spondylocostal dysostosis type 1 (ARSCD1) is a member of the heterogeneous group of disorders termed the spondylocostal dysostoses that are characterized by multiple vertebral segmentation defects and rib anomalies. In these patients, the entire vertebral column is malformed and is replaced by multiple hemivertebrae giving rise to truncal shortening, abdominal protrusion and non-progressive spinal curvature. Genetic studies have shown that some cases of ARSCD are due to mutations in the somitogenesis gene, Delta-like 3 (DLL3), that encodes a ligand for the Notch signalling pathway-ARSCD type 1. To date, 17 different DLL3 gene mutations have been reported. A consanguineous family of Turkish origin with ARSCD type 1 due to a homozygous DLL3 mutation requested genetic prenatal diagnosis. Using DNA from a chorionic villus sample, both linkage analysis of the DLL3/19q region and direct sequencing for the familial mutation demonstrated that the unborn fetus was an unaffected carrier. This is the first case of molecular genetic prenatal diagnosis in any form of SCD.

Adult↗
PubMed1994

A cost-effectiveness analysis of amniocentesis and chorionic villus sampling for prenatal genetic testing.

Amniocentesis and chorionic villus sampling are tests for the prenatal diagnosis of cytogenetic abnormalities. We calculated the incremental costs per abnormal birth averted, and the incremental costs per quality-adjusted outcome, of amniocentesis and chorionic villus sampling performed for the indication of maternal age. Probabilities were obtained from the literature, and direct medical costs from hospital charges deflated to reflect aggregated contracted care reimbursements. Utilities were used to quality-adjust prenatal testing outcomes. Based on costs per abnormal birth averted, at all maternal ages from 30 to 43 years, amniocentesis was more cost-effective than chorionic villus sampling; at ages 44 and 45, chorionic villus sampling was more cost-effective. However, if the anxiety reduction provided by first-trimester diagnosis was equivalent to a 0.2% risk of an abnormal child, chorionic villus sampling was more cost-effective than amniocentesis at all maternal ages. Based on data from the 1988 United States natality cohort, the current policy of testing women aged 35 and older would cost $103,329 and $111,184 per abnormal birth averted for amniocentesis and chorionic villus sampling, respectively. Testing women aged 30 and older would almost double these costs. For either prenatal test, targeting high risk women for testing, and striving for utilization rates of 50% or higher, appeared to be the most cost-effective policy.

Adult↗
PubMed2002

[Confined placental mosaicism: definition, consequences and outcome].

Confined placental mosaicism (CPM) occurs in approximately 2 per cent of viable pregnancies studies by chorionic villus sampling. The great majority of pregnancies with confined placental mosaicism proceed uneventfully, resulting in normal liveborn infants. However, a few specific chromosomal abnormalities have been associated with fetal growth retardation. Fetal karyotype should be checked by amniocentesis and such pregnancies should have careful ultrasound follow-up.

Amniocentesis↗
PubMed1990

[Clinical approach to prenatal diagnosis of chromosome abnormalities].

In the case of prenatal diagnosis of chromosomal aberrations, the obstetrician has to determine the high risk situation for which a fetal karyotype examination has to be done. Before pregnancy, the karyotyping indications are defined by genetic consultation in order to analyze classical data such as the parents' age, repeated spontaneous abortions, previous child with a genetic defect, fetal malformations or intrauterine death... During pregnancy, clinical warning signs, in particular, anomalies in the amniotic fluid and fetal growth retardation should be recognized, but most abnormal karyotypes are detected by ultrasonographic examination (average: 11.3%). Down's syndrome diagnosis is presently evaluated by some more specific ultrasonographic signs such as fetal nape or femur length measurements and by new biological parameters such as hCG assay. The sampling method for karyotyping, early or late amniocentesis, first trimester but also second and third trimester placental biopsy or cordocentesis will be chosen in accordance with the importance of the chromosomal aberration expected, gestational age, procedure complication risks and the obstetrician's experience. The following examinations could be proposed: in high risk cases determined before pregnancy, a chorionic villus sampling should be done between the 9th and 11th weeks of gestation; in low risk cases such as advanced maternal age, a first trimester chorionic villus sampling or a second trimester amniocentesis could be chosen; in the case of Down's syndrome, warning signs, for example ultrasonographic or biological parameters, a second trimester placental biopsy to relieve the parents' anxiety; in high risk cases such as ultrasonographic malformations, late placental biopsy or cordocentesis.

Amniocentesis↗
PubMed1993

Mosaicism in chorionic villus sampling: an analysis of incidence and chromosomes involved in 2612 consecutive cases.

The incidence of chromosome mosaicism was analysed in 2612 consecutive chorionic villus sampling (CVS) cases. True mosaicism was found in five cases (0.19 per cent). Confined placental mosaicism (CPM) occurred in 51 cases (1.9 per cent). The chromosomes most frequently encountered in CPM were 2, 7, 8, and the sex chromosomes. Three types of CPM as proposed by Kalousek et al. (1992) were observed. Cases with CPM had a statistically significant association with spontaneous abortion (chi 2 = 3.92, p < 0.05). Based on the data analysed, we conclude that (1) CPM is as likely to occur in cultured chorionic villi as in the direct preparation; (2) as with amniocyte culture, chromosome 2 mosaicism occurs commonly in villus culture; (3) the incidence of false-positive results can be greatly reduced and concern about maternal cell contamination can be alleviated by using both direct cytotrophoblast preparation and cultured chorionic stroma cells in all cases; and (4) follow-up cytogenetic and obstetrical studies, such as ultrasound and fetal monitoring, should always be considered in cases where CPM is suspected.

Cells, Cultured↗
PubMed1993

Molecular cytogenetic analysis of term placentae suspected of mosaicism using fluorescence in situ hybridization.

In first-trimester chorionic villus sampling (CVS) for prenatal diagnosis, abnormal chromosomal findings, such as mosaicism, trisomies, or suspect abnormal karyotypes, are found more frequently than at amniocentesis. The fact that these chromosomal abnormalities do not always reflect the fetal karyotype but may be restricted to the placenta is a major problem in diagnosis and counselling. In this paper we present the results of fluorescence in situ hybridization (FISH) studies on interphase nuclei of three term placentae investigated because of false-positive findings at first-trimester CVS. The chorionic villi of the first case showed a mosaic chromosome pattern involving a trisomy 10 cell line and a normal cell line, those of the second case a total trisomy 8 cell line, while in the third case a complete monosomy X was found. Follow-up amniocentesis in each of these three cases revealed a normal karyotype. By using FISH, we were able to confirm the presence of the aberrant cell lines, which were all confined to one part of the placenta. FISH on interphase nuclei allows the investigation of large numbers of cells for the existence of numerical chromosome aberrations in a quick and reliable way.

Adult↗
PubMed2006

Noninvasive prenatal diagnosis by analysis of fetal DNA in maternal plasma.

Prenatal diagnosis has become a standard part of obstetrics care. Genetic diagnoses are established prenatally through the sampling of fetal genetic material by invasive methods such as amniocentesis or chorionic villus sampling, which are associated with a risk of fetal loss. Hence, the recent discovery of the presence of fetal DNA in maternal plasma has led to exciting possibilities of noninvasive prenatal diagnosis. Numerous applications have since been reported for the analysis of circulating fetal DNA. The accuracy of fetal DNA assessment from maternal plasma is dependent on the appropriate preanalytical handling of maternal blood samples, an efficient fetal DNA extraction protocol, and a sensitive and specific detection method. The protocol that has been applied regularly in the laboratory of the authors for the reliable detection and quantification of circulating fetal DNA is presented in this chapter.

Calibration↗
PubMed1990

[Prenatal diagnosis in the county of Viborg before and after decentralization of sample taking].

On account of an increase in the frequency of amniotic fluid samples (AFS), the need for further decentralisation of sampling developed. Viborg Amt (Viborg County) was able to offer this service to all pregnant women in the county after 01.VIII.1985 who fulfil the indication for prenatal diagnosis (PD). Among 902 registered AFS divided over a period of two years before and two years after the decentralisation there was no significant deterioration of the service measured by the number of spontaneous abortions and unsuccessful AFS. The indications for prenatal diagnosis altered in such a way that the unofficial indication of anxiety rose significantly while the indication of maternal age greater than or equal to 35 years decreased. Furthermore, a positive correlation was registered between a reduction of distance from the pregnant woman to the centre of sampling and the percentage of referrals made by the local practitioner. The paper also shows that more pregnant women, referred for AFS on account of advanced age, accepted PD than was registered in an earlier research, but this pattern declined in the research period.

Amniocentesis↗
PubMed1989

Chorionic villus sampling: first trimester fetal diagnosis.

Chorionic villus sampling has a promising future as a method of first-trimester fetal diagnosis. Its greatest advantage, compared with amniocentesis, is the earlier diagnosis of fetal disease. Evidence from more than 20,000 pregnancies indicates the safety and reliability of this emerging method of prenatal diagnosis.

Chorionic Villi Sampling↗
PubMedDate not supplied

Studies on the isolation and identification of fetal nucleated red blood cells in the circulation of pregnant women before and after chorion villus sampling.

OBJECTIVE: To investigate the feasibility of various molecular forms of hemoglobin as markers for fetal nucleated red blood cells (NRBCs). METHODS: The presence of epsilon and gamma globin positive NRBCs was investigated in pure fetal blood and in blood from pregnant women before and after chorion biopsy. Maternal samples were enriched for NRBCs by various conventional methods, including limited enrichment by only positive CD71 selection or single density gradient. We searched for fetal cells on slides by automated scanning. Fetal cells were defined by (1) the presence of epsilon or gamma globin and (2) simultaneously by the presence of a Y chromosome signal. RESULTS: 18 of 25 gamma globin positive cells identified in blood samples after chorion biopsy were chromosome Y signal positive, and 1 cell had two X chromosome signals. 263 of 339 epsilon globin positive cells identified in blood samples after chorion biopsy were hybridized with X and Y chromosome probes. None had two X signals, and 249 were Y positive. In blood samples before chorion biopsy, only 1 epsilon globin positive fetal NRBC and no epsilon globin positive maternal NRBCs were found. CONCLUSIONS: Epsilon globin may be specific for fetal NRBCs. Only 1 epsilon globin positive fetal cell was identified in 1 of 12 blood samples before chorion biopsy, representing a total of 182 ml of maternal blood. This suggests that most fetal cells found in maternal blood by fluorescence in situ hybridization methods may not be NRBCs.

Antibody Specificity↗
PubMed2006

Fetomaternal hemorrhage in relation to chorionic villus sampling revisited.

OBJECTIVE: To investigate whether chorionic villus sampling (CVS) results in a proportional increase of alpha-fetoprotein (AFP) and fetal red cells in maternal blood. METHODS: Blood samples were collected before and after CVS. The AFP concentration was measured and supervised automated microscopy of Kleihauer-Betke slides was applied to quantify fetal red cells. RESULTS: AFP analysis was performed in 53 paired samples and automated microscopic scanning in 59 paired samples. Median AFP concentrations before and after CVS were 12.0 microg/L (range 6.4-36.4) and 18.7 microg/L (range 8.2-668.9), respectively, indicating a significant increase (p < 0.0001). Median numbers of fetal red cells detected before and after CVS were 0 (range 0-36) and 0 (range 0-31), respectively. No significant increase of fetal cells was observed (p = 0.72). The delta (Delta) fetal red cells and the Delta AFP correlated poorly (rho = -0.22, p = 0.11). The amount of villi correlated moderately with the Delta AFP (rho = 0.32, p = 0.02) and did not correlate with the Delta fetal red cells (rho = -0.11, p = 0.43). CONCLUSIONS: Although the AFP concentration after CVS increased, no increase of fetal red cells was detected. These findings suggest that CVS results in a leakage of proteins due to placental tissue damage, rather than increased trafficking of fetal cells.

Adult↗
PubMed1994

Trisomy 8 mosaicism in chorionic villus sampling: case report and counselling issues.

We report an unusual case involving chorionic villus sampling (CVS) and trisomy 8 mosaicism. CVS showed a normal direct preparation while the culture showed mosaicism for trisomy 8. Subsequent amniocentesis revealed only normal chromosomes. A peripheral blood culture after birth revealed low-level trisomy 8 mosaicism. The patient appeared phenotypically and developmentally normal at 30 months of age. We conclude that prenatal counselling for similar cases needs to include the rare but real possibility that chromosome mosaicism detected prenatally may be found postnatally with largely unknown consequences. Secondly, low-level chromosomal mosaicism may be more common than previously recognized. Thirdly, very low-level trisomy 8 mosaicism may be compatible with a normal phenotype but long-term follow-up is required. And lastly, the use of fetal blood sampling is questionable in these cases because the phenotype may not be accurately predicted. Further studies of such cases are needed to address these important and unanswered issues, including the potential implication of mosaicism on academic performance and cognitive functioning.

Adult↗
PubMed1990

Postmortem chorionic villus sampling is a better method for cytogenetic evaluation of early fetal loss than culture of abortus material.

In utero chorionic villus sampling at the time of diagnosis of intrauterine fetal death is compared with more traditional use of cultured fetal skin, products of conception, or amniocentesis. A total of 102 specimens from early fetal losses were evaluated for success in karyotyping and chromosomal results. We found postmortem chorionic villus sampling is technically possible, offers the highest likelihood of getting a cytogenetic result, and is a rapid, reliable, and safe technique. The extraembryonic component of intrauterine fetal deaths appears to remain viable and continues to grow long after the embryo has died. Samples obtained at the time of diagnosis of fetal death offer the greatest changes of successfully obtaining a karyotype. The incidence of chromosome abnormalities associated with fetal loss, particularly trisomies, is higher than previous data suggested.

Adult↗
PubMed1991

Transcervical chorionic villus sampling and midtrimester oligohydramnios.

To study the possible association between transcervical chorionic villus sampling and midtrimester oligohydramnios, we conducted a prospective cohort study of all women who were seen for genetic counseling in the first trimester during a 2-year period. Women who chose chorionic villus sampling were compared with women who chose traditional amniocentesis for incidence of midtrimester oligohydramnios. Of 442 women exposed to chorionic villus sampling with a normal fetal karyotype, severe oligohydramnios developed in 12 (2.7%) at 16 to 23 weeks' gestation. None of the 391 women with normal fetal karyotypes who were counseled at the same time in pregnancy but who chose amniocentesis had oligohydramnios at the time of amniocentesis (p = 0.01). A nested case-control analysis was performed within the chorionic villus sampling group to evaluate risk factors associated with midtrimester oligohydramnios. Midtrimester oligohydramnios occurring after chorionic villus sampling was associated with postprocedure bleeding and elevated maternal serum alpha-fetoprotein (p less than 0.01). There were no perinatal survivors with midtrimester oligohydramnios.

Adult↗
PubMed1995

Comparison of transcervical and transabdominal chorionic villus sampling loss rates in nine thousand cases from a single center.

OBJECTIVES: Our purposes were (1) to compare the safety of transabdominal and transcervical chorionic villus sampling with the use of a consistent technique at one center and (2) to determine whether the training of fellows can be accomplished without an increase in the loss rate. STUDY DESIGN: We performed a retrospective comparison of transabdominal and transcervical chorionic villus sampling loss rates from procedures performed by three principal operators between 1984 and 1992. The type of procedure was chosen by the operator at the time of the procedure on the basis of placental location. RESULTS: Procedures 1 through 2573 were performed solely by transcervical chorionic villus sampling and had an overall fetal loss rate of 5.12%. With the addition of transabdominal chorionic villus sampling the overall fetal loss rate dropped to 3.07% (p < 0.0001). Three and one half years after the start of transabdominal chorionic villus sampling (about 1300 transabdominal chorionic villus sampling procedures), the transabdominal chorionic villus sampling loss rate was significantly better than the transcervical loss rate (p = 0.035), and the difference widened steadily after that. During the same time period seven fellows performed 716 procedures for a fetal loss rate among fellows of 2.72%. CONCLUSIONS: (1) Under optimal circumstances (one center, large numbers, few operators, consistent technique, operator choice of best approach), transabdominal chorionic villus sampling may be inherently safer than transcervical chorionic villus sampling. (2) The addition of transabdominal chorionic villus sampling decreases overall chorionic villus sampling loss rates. (3) Although the number of procedures performed by fellows is small, it appears that with close supervision by experienced operators successful training of fellows can be accomplished without adverse effects on loss rates.

Chi-Square Distribution↗
PubMed2006

Gestational age at abortion: the impact of first-trimester risk assessment for aneuploidy.

OBJECTIVE: The purpose of this study was to determine the impact of first-trimester risk assessment on gestational age at abortion for abnormal fetal karyotype. STUDY DESIGN: Women who had abortion for trisomies 21, 18, and 13, 45X, and Triploidy in our hospital from 1999 to 2005 were included. Data collected included gestational age at abortion, method of prenatal diagnosis, and whether or not first-trimester risk assessment was performed. Analysis was performed using Spearman Correlation, Chi-square for trend, Fisher exact test, and Mann-Whitney U test. RESULTS: One hundred forty-nine patients were included. There was an inverse correlation between year of abortion and gestational age (rho = -0.31; P < .001) coinciding with significant increases in the rates of first-trimester risk assessment and prenatal diagnosis by chronic villus sampling. CONCLUSION: First-trimester risk assessment is associated with earlier diagnosis of aneuploidy. In our institution, this has led to earlier abortions. Availability of quality first-trimester risk assessment can decrease the need for abortion later in pregnancy.

Abortion, Induced↗
PubMed2000

Prenatal diagnosis of RAG-deficient Omenn syndrome.

Mutations in recombination activating genes (RAG) 1 and 2 have been found to cause Omenn syndrome (OS), a severe combined immunodeficiency (SCID) with a peculiar phenotype. Here we report the prenatal diagnosis performed in three OS patients. Mutations were detected in the probands as well as in their parents by genomic sequencing of the complete coding regions of both RAG 1 and RAG 2, which are contained in a single exon. All the three probands had RAG 1 mutations in both alleles, at least one of which was a missense substitution. Of the three fetuses tested, one had a wild type sequence on both alleles, while the other two had one mutated allele. None of the three patients were predicted to be affected and this was confirmed at birth. Detection of RAG genes mutations on fetal samples by direct sequencing is an easy and effective way to investigate fetuses from families affected with RAG-dependent SCID and OS families affected by RAG-dependent SCID and OS.

Amniocentesis↗
PubMed2002

Transcervical chorionic villus sampling in multiple pregnancies using a biopsy forceps.

OBJECTIVE: The aim of this study was to assess the effectiveness and safety of chorionic villus sampling (CVS) performed in multiple pregnancies by means of a transcervical biopsy forceps. METHODS: The study included CVS performed from January 1990 to March 2000 in our Unit. The results were analysed in two consecutive periods, period A (1990-1994) and period B (1995-2000), in an attempt to assess the effect of increasing experience. RESULTS: Seventy-five samplings were performed in 39 multiple pregnancies, 38 twin sets and one triplet. A cytogenetic report was obtained in 73% of cases in period A and in 98% in period B. An abnormal karyotype was observed in 11 samples. The need for subsequent amniocentesis decreased from 38% in period A to 10% in period B. The spontaneous fetal loss rate in chromosomally and structurally normal fetuses before the 20th week decreased from 8.7% in period A to 3.3% in period B. The fetal loss rate after the 20th week was 3.3% in period B and none in period A. It must be noted that in three out of the four cases of fetal loss an amniocentesis was needed after CVS. CONCLUSION: Our results suggest that effectiveness and safety improved with increasing experience. Transcervical chorionic villus sampling allows an earlier prenatal genetic diagnosis in multiple pregnancies and this may be particularly relevant for a safer selective termination when chosen by parents if one of the fetuses has an abnormal karyotype.

Abortion, Spontaneous↗