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PubMedDate not supplied

Results and views of women in population-wide pregnancy screening for trisomy 21 in east Finland.

The serum screening test for trisomy 21 was offered to all pregnant women in East Finland during 1993. The results and the women's views on trisomy screening are reported here. A total of 9,343 (89%) of the pregnant women participated in the screening. A total of 615 women were eligible for amniocentesis or chorionic villus sampling; among them 22 pregnancies were affected by Down Syndrome. Fifteen of them were detected by double screening; in 2 missed cases only maternal-serum alpha-fetoprotein had been determined. In all 5 cases missed by double screening the maternal age was less than 30 years. The women's attitudes were studied by means of a questionnaire, which was mailed to 214 women. The response rate to our questionnaire was 74%. A total of 87% of respondents highly or very highly valued the opportunity to participate in the screening. Despite the existing problems caused by late testing, 87% of respondents want to be tested again in their future pregnancies.

Adult↗
PubMed2002

Early second trimester (13 to 20 weeks) transabdominal chorionic villus sampling (TA-CVS): a safe and alternative method for both high and low risk populations.

OBJECTIVE: To assess feasibility, effectiveness and risk of prenatal diagnosis by TA-CVS at 13-14 and 15-20 weeks' gestation. METHODS: CVS was performed transabdominally by free-hand single needle insertion technique under continuous ultrasound visualization on 1844 pregnant women, aged 18 to 48, at 13 to 20 weeks' gestation, whose primary indication was chromosomal anomalies and single gene defects in 85% and 15% of cases, respectively Clinical follow-up of women undergoing TA-CVS at 13 to 20 weeks' was prospectively obtained; the population was split in two groups of 13-14 (series B) and 15-20 weeks' (series C) gestation. Statistical evaluation included a group of TA-CVS cases performed at 11-12 weeks (series A). RESULTS: Sampling was feasible in 98.2%, 99.1% and 95.8% of cases of series A, B and C, respectively. Sampling was successful in all cases of the three series and a second insertion was required in 1.5%, 1.3% and 0.9%, respectively. A trend towards lower fetal loss rate is apparent (1.02%, 0.86%, and 0.46 in series A, B, and C, respectively), although differences were not statistically significant. No post-procedural complications were reported for series B and C, while spotting was present in 1.8% of cases for series A. Karyotyping was totally successful by short term culture and was also available by long term culture in 99% of cases for series A, B and C when the amount of chorionic tissue was more than 15 mg. CONCLUSION: TA-CVS appears highly effective and safe and might be offered as a valuable alternative to early as well as mid-trimester amniocentesis.

Abdomen↗
PubMed2001

Abnormal fetal growth is not associated with altered chorionic villous expression of vascular endothelial growth factor mRNA.

Altered placental and circulating levels of vascular endothelial growth factor (VEGF) and its receptor (flt-1) may be associated with pre-eclampsia and intrauterine growth restriction (IUGR). The aim of this study was to determine whether chorionic villous VEGF or flt-1 mRNA are altered at early gestation in pregnancies subsequently found to be complicated by abnormal fetal growth. Quantitative reverse transcription-polymerase chain reaction was performed on chorionic villous samples for VEGF and flt-1 using an internal RNA standard. Using the individualized birthweight ratio (IBR), the subjects (n = 51) were divided into three groups; IUGR (IBR <10th centile, n = 6), normal (IBR 10th-90th centiles, n = 41) and macrosomic (IBR >90th centile, n = 4). There was no correlation between the mRNA expression of VEGF(121) or VEGF(165) and gestational age of the normal controls. There was also no difference in the expression of either of the VEGF isoforms between the IUGR or macrosomic groups and the normal controls. Expression of flt-1 was below the detection limit of the assay. In conclusion, we have found that altered chorionic villous expression of VEGF is not associated with the initial stages of development of IUGR or macrosomia.

Actins↗
PubMed1990

A reliable method for obtaining high-resolution banded chromosome preparations from chorionic villus samples.

A reliable method for obtaining high-resolution banded chromosome preparations from chorionic villus samples (CVS) is described, in which a synchronization cell-culture technique with the use of thymidine is introduced. After culturing a suspension of chorionic villus cells in a medium supplemented with 0.3 mg/ml thymidine for 13-17 hr, cells were washed twice, and recultured for further 8 hr. The cells were then treated with 10 micrograms/ml ethidium bromide or 1 microgram/ml actinomycin D for 1 hr and subsequently with 0.01 microgram/ml Colcemid for 30 min. The average mitotic index obtained was more than 60 mitoses/mg CVS, and more than 60% of mitoses proceeded to the prometaphase stage, the later prophase stage, or in between. The application of this method for prenatal diagnoses in five CVS in the first trimester pregnancies proved that it is a simple, practical and efficient prenatal diagnostic method.

Cell Cycle↗
PubMed1993

Early transabdominal chorionic villus sampling in couples at high genetic risk.

OBJECTIVE: The purpose of the study was to evaluate the feasibility and safety of transabdominal chorionic villus sampling before 9 weeks' gestation. STUDY DESIGN: Two hundred pregnancies at risk for beta-thalassemia (n = 198) or Duchenne muscular dystrophy (n = 2) underwent transabdominal CVS at 6 through 8 weeks. Sampling success and fetal loss are expressed in percentages. RESULTS: Sampling was successful in all cases (100%). Forty-eight fetuses were affected by beta-thalassemia and one by Duchenne muscular dystrophy. The percentage of fetal loss, expressed as a proportion of continuing pregnancies, was 4.0%. All women (n = 144) have been delivered, and no misdiagnoses have occurred. We observed one anencephalus and one mild limb defect consisting of absence of distal phalanges of index and little fingers of both hands and distal phalanges of both little toes. CONCLUSION: Transabdominal CVS before 9 weeks is a reliable and relatively safe method for prenatal diagnosis in patients at high risk for genetic diseases. However, further studies are necessary to assess the risk to the fetus.

Adult↗
PubMed2002

Maternal uniparental isodisomy 10 and mosaicism for an additional marker chromosome derived from the paternal chromosome 10 in a fetus.

We report a case of maternal isodisomy 10 combined with mosaic partial trisomy 10 (p12.31-q11.1). Chromosome examinations from a CVS sample showed a karyotype 47,XX,+mar/46,XX [corrected]. The additional marker chromosome which was present in 6/25 interphase nuclei was shown by fluorescence in situ hybridization (FISH) to have been derived from a pericentromeric segment of chromosome 10. DNA analysis was performed from umbilical cord blood from the fetus after termination of the pregnancy at 18 weeks. The results showed that the two structurally normal chromosomes 10 were both of maternal origin, whereas the marker chromosome derived from the father. Autopsy of the fetus revealed hypoplasia of heart, liver, kidneys and suprarenal glands, but, apart from a right bifid ureter, no structural organ abnormalities. This fetus represents the second reported instance of a maternal uniparental disomy (UPD) 10.

Abnormalities, Multiple↗
PubMed2005

First-trimester ductus venosus, nasal bones, and Down syndrome in a high-risk population.

OBJECTIVE: Assessing the role of fetal ductus venosus and nasal bones evaluation in first-trimester screening for Down syndrome. METHODS: This was a prospective cohort study in a tertiary referral fetal medicine unit involving 628 consecutive fetuses undergoing chorionic villus sampling. The indication for chorionic villus sampling was an increased risk (more than 1:300) for trisomy 21 based on maternal age and nuchal translucency screening in 313 cases (54.7%), increased maternal age in 195 (34.1%), and other in 64 (11.2%). Immediately before chorionic villus sampling, an ultrasound examination was performed. The pattern of blood flow in the ductus venosus and the presence or absence of the nasal bones was noted. RESULTS: A satisfactory examination of both ductus venosus and nasal bones was possible in 572 fetuses. Of these, 497 (86.9%) had a normal karyotype, and 47 (8.2%) were affected with Down syndrome. The likelihood ratio for trisomy 21 was 7.05 (95% confidence interval 4.27-11.64) in the case of abnormal ductus venosus flow and 6.42 (95% confidence interval 3.86-10.67) in the case of absent nasal bones. CONCLUSION: In addition to increased fetal nuchal translucency, Down syndrome is significantly associated with first-trimester abnormal flow velocity patterns in the ductus venosus and hypoplasia of the nasal bones.

Chorionic Villi Sampling↗
PubMedDate not supplied

Viable pregnancies after diagnosis of trisomy 16 by CVS: lethal aneuploidy compartmentalized to the trophoblast.

Increasing utilization of chorionic villus sampling (CVS) has lead to the discovery that the placenta can karyotypically be a very heterogeneous organ, and chromosomal mosaicism within the placental can confuse cytogenetic interpretation. Recently, confined placental mosaicism (confined regions of aneuploidy in the otherwise normal diploid placental and fetus) has been described involving a number of chromosomal abnormalities. Fetal trisomy 16 is considered uniformly lethal early in gestation. However, we present 3 cases of nonmosaic trisomy 16 confined regionally to the placenta. We discuss the possible etiology, impact on the developing fetus, and suggest an approach to the workup and evaluation of cases where the karyotype obtained on CVS is not compatible with the findings on ultrasound.

Adult↗
PubMed1998

Prenatal diagnosis of congenital alveolar proteinosis (surfactant protein B deficiency).

We report on the DNA-based prenatal diagnosis of congenital pulmonary alveolar proteinosis in a family in which alveolar proteinosis was associated with surfactant protein B (SP-B) deficiency. The parents had lost an eight-week-old female child due to this fatal disorder. The affected child was homozygous and both parents were heterozygous for a frame-shift mutation in codon 121 of the surfactant protein B gene (SFTP3-gene). Chorionic villus sampling (CVS) was performed in two subsequent pregnancies. DNA analysis revealed homozygosity for the codon 121 mutation in the first fetus, and the pregnancy was terminated. Homozygosity for the parental wild-type alleles was detected in the following prenatal diagnosis, and a healthy child has been born. DNA-based prenatal diagnosis of congenital alveolar proteinosis is simple, fast and reliable, and can be performed much earlier in pregnancy than any other method, e.g. the direct measurement of SP-B in amniotic fluid. In families with a term infant who dies of unexplained respiratory failure, genetic testing of the parents should be evaluated, since the presence of the codon 121 mutation enables prenatal diagnosis in later pregnancies.

Amniotic Fluid↗
PubMed2004

Sphingolipidoses in Turkey.

During the last 5 years 2057 children under the age of 5 with various neurologic symptoms with the suspected diagnosis of lysosomal storage diseases were referred to our hospital from different universities and state hospitals. We were able to separate sphingolipidoses by lysosomal enzyme screening. A total of 300 patients (15%) with sphingolipidoses were diagnosed; there were deficiencies of arylsulfatase A [metachromatic leukodystrophy (MLD)] in 93 (31%), hexosaminidase [Sandhoff disease (SHD)] in 62 (20.7%), hexosaminidase A [Tay-Sachs disease (TSD)] in 15 (5%), beta-galactosidase (GM1 gangliosidosis) in 35 (11.7%), alpha-galactosidase (Fabry disease) in one (0.3%) cerebroside beta-galactosidase (Krabbe disease) in 65 (21.7%) and glucosylceramidase (Gaucher disease) in 29 (9.6%). SHD (20.7%), MLD (31%) and Krabbe disease (21.7%) were common. Prenatal enzymatic diagnosis was made in 70 at risk pregnancies, 64 for TSD and SHD, three for MLD and three for GM1 gangliosidosis by using chorionic villus biopsy in 54, cord blood samples in 12 and cultured amniotic fluid cells in four. Seventeen fetuses were found to be affected. We have calculated the relative frequency and minimum incidence of sphingolipidoses in Turkey. The combined incidence of sphingolipidoses is 4.615 per 100,000 live births. The calculated incidences are 1.43, 0.95, 1, 0.23, 0.54, 0.45, 0.015 per 100,000 live births for MLD, SHD, Krabbe, Gaucher, TSD, GM1 gangliosidosis and Fabry diseases, respectively. The real incidence, which covers all subtypes of this group of diseases, should be greater than this number. The results suggested that, as a group, sphingolipidoses are relatively common and represent an important health problem in Turkey and some rare autosomal recessive diseases of Turkey are due to 'founder effect' created by consanguineous marriages.

Cerebroside-Sulfatase↗
PubMed1996

Risk of fetal mosaicism when placental mosaicism is diagnosed by chorionic villus sampling.

OBJECTIVE: Our purpose was to determine the risk of fetal mosaicism when placental mosaicism is found on chorionic villus sampling. STUDY DESIGN: We present a case of mosaic trisomy 22 detected on chorionic villus sampling and subsequently found in the fetus. A review of comprehensive chorionic villus sampling studies with emphasis on follow-up for fetal mosaicism was conducted. RESULTS: Among 13 studies reviewed, 469 cases of placental mosaicism are presented; fetal mosaicism was found in 50 (10.7%). Factors associated with fetal mosaicism are (1) mosaicism on mesenchymal core culture and (2) type of chromosome abnormality involved--specifically, marker chromosomes (26.7%) and common autosomal trisomies (19.0%). Amniocentesis predicted fetal genotype in 93% to 100% of cases of placental mosaicism, depending on the cell type in which mosaicism was diagnosed. CONCLUSIONS: Although mosaicism is usually confined to the placenta, the fetus is involved in about 10% cases. Patients should be counseled about this risk and the accuracy of follow-up amniocentesis.

Adult↗
PubMed2000

Learning in medicine: chorionic villus sampling.

Operator experience is considered to influence the safety and success of medical procedures. We performed a retrospective survey to assess learning curves in chorionic villus sampling (CVS). Data of 2081 consecutive women, in whom CVS was carried out in a tertiary care university hospital for prenatal diagnosis, were available for analysis. Endpoints of the analysis were fetal loss, failure of the procedure and need for several needle insertions. Frequencies of each endpoint were calculated and plotted for consecutive series of 50 samplings per operator. Logistic regression analysis was used to quantify the effect of operator experience. We observed a statistically significant learning effect for the unit as a whole as assessed by fetal loss figures and the same tendency for need to do several insertions. We did not observe a (collective) learning effect for failure of the procedure. Individual operators showed a significant learning profile for some endpoints. The individual learning profile predominantly depended on previous experience in amniocentesis. Our study substantiates the presence of a learning curve for CVS. This supports the view that centralization and restriction of CVS to a limited number of experienced operators within centres, is likely to have a positive influence on safety and success of the procedure.

Abortion, Spontaneous↗
PubMed1990

Mosaicism in chorionic villus sampling: an association with poor perinatal outcome.

Prenatal diagnosis by first-trimester chorionic villus sampling was successful in 4319 pregnancies involving 4395 fetuses. Cytogenetic information was obtained by both rapid cytotrophoblastic preparation and monolayer mesenchymal tissue culture. Chromosomal mosaicism was present in 55 of 4319 (1.3%). The abnormal cell line involved the cytotrophoblast in 79.6% of the mosaic specimens. None of the abnormalities found in the cytotrophoblast were confirmed in the fetus when the tissue culture was normal, supporting the belief that the cells of the mesenchymal core more truly reflect the chromosomal constitution of the fetus. However, a significant increase in the perinatal loss rate in the placental mosaic group was noted when compared with the nonmosaics: 16.7 versus 2.7% (P = .0001). These findings suggest that placental mosaicism may be a cause of perinatal loss.

Abortion, Spontaneous↗
PubMed1993

Follow-up of pregnancies complicated by placental mosaicism diagnosed by chorionic villus sampling.

Thirty-nine (2.3 per cent) of 1724 chromosome studies from diagnostic chorionic villus samplings (CVS) done between 1983 and 1990 showed either level III (true) mosaicism (1.2 per cent) or level II (pseudo-) mosaicism (1.1 per cent) for chromosomal aneuploidy. Follow-up information on these 39 pregnancies was collected from questionnaires to families, paediatricians, and obstetricians. For all cases in which the pregnancy was continued and further testing was accomplished, the mosaicism was felt to be confined to the placenta. As compared with a control group of pregnancies evaluated by CVS with normal karyotypes, there was no increased incidence of pregnancy loss, congenital malformations, or developmental delay in the infants. Although intrauterine growth retardation occurred in several of the level III mosaic cases, adequate catch-up growth has been demonstrated.

Abortion, Spontaneous↗
PubMed2000

Outcome of twin gestations after first trimester chorionic villus sampling.

OBJECTIVE: To tabulate genetic results and obstetric outcomes of twin pregnancies after first-trimester chorionic villus sampling (CVS). METHODS: The study included 262 consecutive women with twin pregnancies who had first-trimester CVS between 1988 and 1998. RESULTS: Major indications for prenatal diagnosis included maternal age (n = 82), pregnancies after intracytoplasmic sperm injection (n = 114), or both (n = 33). Among 524 fetuses, 519 were sampled adequately. Cytogenetic results were incorrect because of sampling the same fetus twice in two pregnancies. In three pregnancies, contamination caused by mixed sampling made cytogenetic results uncertain. Correct genetic diagnoses were obtained in 509 fetuses, 24 of which had chromosomal abnormalities on direct preparations and four of which had monogenetic conditions. Additional invasive procedures were done on five occasions. Fifteen fetuses were terminated selectively. The total fetal loss rate was 5.5% (28 of 509). The indication for the procedure did not significantly determine the fetal loss rate. The mean +/- standard deviation (SD) gestational age at birth was 35.9 +/- 2.9 weeks, and the mean +/- SD birth weights for twins A and B were 2429 +/- 589.1 g and 2378 +/- 588.5 g, respectively. CONCLUSION: First-trimester CVS is an accurate means of prenatal genetic diagnosis in twins, offering early selective termination in cases of abnormal genetic results in one of the fetuses.

Adult↗
PubMed2004

Early complications of prenatal invasive diagnostics: perspective analysis.

In this retrospective analysis we studied 1489 women who underwent prenatal invasive diagnostic procedures between January 2000 and December 2002. We examine the influence of risk factors and the incidence of early complications following amniocentesis and chorion villus sampling, in particular the incidence of fetal loss. The study group included 438 women who underwent CVS and 1051 underwent amniocentesis. For each woman we studied anamnestic risk factors (recurrent pregnancy losses, fibroids, twin birth, uterine hematic loss), intraoperative risk factors (repetition of the insertion, transplacental sample, hematic liquid, early bleeding) and postoperative risk factors (pelvic pain, hematic losses, liquid losses, spastic pain, fever). In our data the miscarriage incidence was 1% for CVS and 1.7% for amniocentesis. Our results showed that in relation to CVS, the presence of fibroids gives an OR of miscarriage of 68 (95% C.I.=6.50-659.78; p=0.000). In relation to amniocentesis, the incidence of hematic losses gives an OR of miscarriage of 10 (95% C.I.=1.50-32.94; p=0.04). If these results were confirmed by other experiences, they could induce obstetricians to avoid CVS in these women with uterine fibroids and hence recommend amniocentesis to them. Particular attention has to be taken in those patients with vaginal bleeding following amniocentesis.

Abortion, Spontaneous↗
PubMed1996

Prenatal diagnosis and carrier screening for fragile X by PCR.

During the past three years, we have conducted fragile X DNA studies for carrier screening and prenatal diagnosis using a previously described PCR protocol that accurately resolves normal FMR1 alleles and premutations and detects most full mutations [Brown et al., JAMA 270:1569-1575, 1996]. A total of 344 pregnant women with a family history of mental retardation of unknown cause were screened and 6 fragile X carriers were identified: two had full mutations, and four had premutations. The mentally retarded relatives of two other women were found to be fragile X positive although the women themselves were not carriers. In all, 6 carriers and 8 fragile X families were identified by this screening. We have also screened 40 pregnant women who were members of previously identified fragile X families, but whose carrier status was unknown. Ten were found to be carriers and were offered prenatal diagnosis. Prospective prenatal testing of 84 carrier women correctly detected 31 fetal samples (19 females, 12 males) with full mutations and 6 with premutations (2 females, 4 males). No false positives but one false negative occurred early on due to undetected maternal cell contamination. In addition, screening of 806 males with developmental delays of unknown cause gave positive results in 33 (4.1%). Potential problems and pitfalls of direct DNA testing are discussed. Because of the proven success of fragile X screening with direct molecular analysis, screening of all undiagnosed individuals with mental retardation and at risk pregnant women should now be considered. The identification of fragile X carriers and prenatal diagnosis of their pregnancies should significantly reduce the prevalence of this syndrome.

Amniocentesis↗
PubMed1989

Prenatal fetal adrenal suppression following in utero diagnosis of congenital adrenal hyperplasia.

Congenital adrenal hyperplasia due to 21-hydroxylase deficiency can result in marked virilization of the external genitalia of affected female subjects. Theoretically, suppression of the fetal pituitary-adrenal axis with glucocorticoid during gestational weeks 9 to 17 should prevent the development of ambiguous genitalia in the female fetus. Prenatal diagnosis of congenital adrenal hyperplasia can be made on elevated amniotic fluid 17-hydroxyprogesterone and adrenal androgen concentrations, and HLA typing of cultured amniotic fluid cells. However, these tests cannot be completed before 16 to 17 weeks of gestation, and maternal therapy would have to be instituted before the exact genetic status of the fetus is known. Chorionic villus sampling during the first trimester provides an alternative to second trimester diagnosis in patients who are at risk for bearing offspring with congenital adrenal hyperplasia. We report the use of dexamethasone suppression at 8 weeks of gestation in a 34-year-old woman whose son had congenital adrenal hyperplasia due to severe salt-losing 21-hydroxylase deficiency and whose biopsy revealed a 46XX chromosomal pattern. Cultured cells from the biopsy confirmed the fetus to be of identical HLA haplotype to the previous affected sibling. At 41 weeks the patient delivered a female neonate with minimal prominence of the clitoris, mildly rugated labia, a single perineal opening and minimal posterior labial fusion. Postnatal tapering of maternal steroids was performed with no long-term sequelae.

Adrenal Hyperplasia, Congenital↗