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PubMed2003

Screening for DMD/BMD deletion carriers by fluorescence in situ hybridization.

Fluorescence in situ hybridization (FISH) serves as an excellent alternative for direct detection of heterozygous deletions. Using a set of exon-specific cosmid DNA probes representing 18 exons, one-color FISH on metaphase and interphase preparations was performed to identify Duchenne/Becker muscular dystrophy (DMD/BMD) deletion carriers. The peripheral blood samples from 9 normal male or female controls and 5 females of independent DMD/BMD families, as well as 2 amniotic fluid specimens and 2 chorionic villus samples (CVS) from normal pregnant females, were analyzed. Expected signals were displayed in 72-100% of peripheral blood lymphocyte metaphases or interphases, 60-70% of amniocyte interphases, and 95-99% of chorionic villus cell interphases. One suspected female was identified as a deletion carrier and two were excluded. The results indicated that metaphase and interphase FISH were both useful for detection of heterozygous deletions. FISH, in combination with other available techniques, allowed efficient screening of DMD/BMD deletion carriers. The study also offered preliminary results in support of an approach to prenatal diagnosis of potential fetal carriers.

Adult↗
PubMed1989

Prenatal exclusion testing for Huntington disease using the polymerase chain reaction.

Prenatal exclusion of Huntington disease (HD) may be carried out by analysis of cosegregating DNA markers on a first-trimester chorionic villus sample. The conventional Southern blot method is time-consuming and requires microgram quantities of DNA and milligram quantities of villus tissue. The use of the polymerase chain reaction (PCR) to amplify genomic DNA by a factor of 10(7) or more makes it possible to do analyses on very small samples in a few hours and without recourse to Southern blotting or hybridization with radioactive probes. We report on a fetus at risk of HD; prenatal testing was carried out by using the PCR to amplify a polymorphic DNA sequence adjacent to the HD locus. The risk of the fetus inheriting the HD gene could not be excluded and the pregnancy was terminated. This represents an example of gene tracking by using amplification of a restriction fragment length polymorphism at some distance from the relevant mutation.

Adult↗
PubMed1992

In situ hybridization studies for the detection of common aneuploidies in CVS.

We have attempted to evaluate the efficiency of interphase cytogenetics in the detection of specific aneuploidies in chorionic villus samples. For this purpose, we used alphoid repetitive sequences specific for the chromosomes involved in the common aneuploidies, namely probes for chromosomes 13, 18, 21, X, and Y. These probes were applied to normal and abnormal CVS cases, as well as to a few mosaic cases. Results from these preliminary studies indicate that the technique can be very efficient for the detection of specific aneuploidies and can be particularly useful in the analysis of mosaic cases, which usually requires the screening of a high number of metaphases.

Aneuploidy↗
PubMed2004

Prenatal diagnosis of autosomal dominant hereditary spastic paraplegia (SPG4) using direct mutation detection.

OBJECTIVE: To present a report on prenatal diagnosis using direct SPG4 gene analysis in a family with autosomal dominant hereditary spastic paraplegia (AD-HSP). METHODS: Genetic linkage and haplotype analysis were previously carried out with chromosome 2p markers. DNA was obtained from affected individuals, the affected father, the mother, and fetal DNA from an ongoing pregnancy by chorionic villus sampling (CVS) in the first trimester. The spastin gene (SPG4) was completely sequenced. RESULTS: A novel 832insGdelAA frameshift mutation, predicted to cause loss of functional protein, was identified in the affected father and in the fetal DNA. CONCLUSIONS: This is the first report on direct prenatal diagnosis of chromosome 2p-linked AD-HSP (SPG4). In addition, we report a novel SPG4-combined small insertion/deletion mutation in exon 5, which may be the first SPG4 mutational hot spot.

Adult↗
PubMed1993

Detection of Duchenne muscular dystrophy gene products in amniotic fluid and chorionic villus sampling cells.

We have examined the expression of several Duchenne muscular dystrophy (DMD) gene products in amniotic fluid (AF) and chorionic villus sampling (CVS) cells. Variable amounts of dystrophin could be detected in most CVS and AF samples by immunoprecipitation followed by Western blot analysis. PCR analysis demonstrated the presence of the muscle type dystrophin mRNA in all AF cell cultures. The brain type dystrophin mRNA was also detected in some of these cultures. These DMD gene transcripts are of fetal origin and are produced by most or all clonable AF cells. The results may facilitate the development of a method for prenatal diagnosis of DMD, based on the expression of the gene in AF and CVS cells.

Amniotic Fluid↗
PubMed2002

Evidence for imprinting on chromosome 16: the effect of uniparental disomy on the outcome of mosaic trisomy 16 pregnancies.

Although a number of infants with maternal uniparental disomy of chromosome 16 (upd(16)mat) have been reported, the evidence for imprinting on chromosome 16 is not yet conclusive. To test the hypothesis that upd(16)mat has a distinct phenotype, which would support the existence of imprinted gene(s) on chromosome 16, statistical analysis was performed on a large series (n = 83) of mosaic trisomy 16 cases with molecular determination of uniparental disomy status. The incidence of upd(16)mat was 40%, which is consistent with the expected one third from random chromosome loss during trisomy rescue (P = 0.262). In pairwise comparisons, upd(16)mat was found to be associated with fetal growth restriction (P = 0.029) and with increased risk of major malformation (RR = 1.43; P = 0.053). Regression modeling showed that the effect of upd(16)mat on fetal/neonatal weight and malformation is independent of the degree of trisomy detected in the fetus. Regression modeling to control for the degree of trisomy detected in the placenta was not possible due to limited sample size. We conclude that upd(16)mat is associated with more severe growth restriction, and possibly, with higher risk of malformation. Our hypothesis is that imprinted gene(s) exist on chromosome 16 and that abnormal expression of these gene(s) in upd(16)mat cells during development results in decreased cell proliferation. Although we do not advocate prenatal testing for upd(16), studies on the long-term outcome of upd(16)mat neonates is necessary for counseling purposes.

Amniocentesis↗
PubMed1997

A report on 158 cases of transcervical chorionic villus sampling.

Between 1989 and 1994 first trimester transcervical chorionic villus sampling was offered to 158 patients after proper counselling. The gestational age range was 9-12 weeks. The most important indication was advanced maternal age (75.4%). Adequate sampling after two, and a maximum of three attempts, was achieved in 98% and 99.3% of patients respectively. After the first year of the study karyotyping using the direct method alone was successful in 96% of cases. The success of karyotyping cultures was 98%. Excluding one false positive result the rate of fetal karyotypic abnormalities was 4.8%. 5 spontaneous abortions occurred (3.2%), all in patients of advanced maternal age. Moderate or severe vaginal bleeding occurred in 6.7% of the patients. There was no case of chorioamnionitis.

Abortion, Spontaneous↗
PubMed2002

Prenatal detection of aneuploidies using fluorescence in situ hybridization: a preliminary experience in an Indian set up.

Fluorescence in situ hybridization (FISH) is a powerful molecular cytogenetic technique which allows rapid detection of aneuploidies on interphase cells and metaphase spreads. The aim of the present study was to evaluate FISH as a tool in prenatal diagnosis of aneuploidies in high risk pregnancies in an Indian set up. Prenatal diagnosis was carried out in 88 high-risk pregnancies using FISH and cytogenetic analysis. Multicolour commercially available FISH probes specific for chromosomes 13, 18, 21, X and Y were used. Interphase FISH was done on uncultured cells from chorionic villus and amniotic fluid samples. FISH on metaphase spreads was done from cord blood samples. The results of FISH were in conformity with the results of cytogenetic analysis in all the normal and aneuploid cases except in one case of structural chromosomal abnormality. The hybridization efficiency of the 5 probes used for the detection of aneuploidies was 100%. Using these probes FISH assay yielded discrete differences in the signal profiles between cytogenetically normal and abnormal samples. The overall mean interphase disomic signal patterns of chromosomes 13, 18, 21, X and Y were 94.45%; for interphase trisomic signal pattern of chromosome 21 was 97.3%. Interphase FISH is very useful in urgent high risk cases. The use of FISH overcomes the difficulties of conventional banding on metaphase spreads and reduces the time of reporting. However, with the limited number of probes used, the conventional cytogenetic analysis serves as a gold standard at present. It should be employed as an adjunctive tool to conventional cytogenetics.

Adult↗
PubMed2006

Pain associated with transabdominal chorionic villus sampling--anticipated versus actual.

OBJECTIVE: To assess anticipated and perceived pain associated with transabdominal chorionic villus sampling (TA CVS). METHODS: Sixteen consecutive patients completed 0 (no pain) to 10 (excruciating pain) visual analog scales before and after TA CVS. RESULTS: Anticipated pain (5.1 +/- 2.9) and perceived pain (5.5 +/- 3.2) were similar (p = 0.42) and moderate. Actual pain was less in five (31%), the same in six (38%), and greater in five (31%) compared to anticipated pain. CONCLUSIONS: These baseline data are useful for patient counseling and designing interventional trials to decrease procedural pain. TA CVS is associated with moderate perceived pain.

Adult↗
PubMed1990

Benefits of placental biopsies for rapid karyotyping in the second and third trimesters (late chorionic villus sampling) in high-risk pregnancies.

In a total of 301 placental biopsies in the second and third trimesters, 225 were performed because of suspicious ultrasonographic findings. In this group there was a high rate of aneuploidies (20%). As opposed to the alternative methods for rapid karyotyping, placental biopsies can easily be performed even in pregnancies with abnormal amounts of amniotic fluid. Oligohydramnios and polyhydramnios were key ultrasonographic findings in 38% of cases and were found to be associated with 22% of abnormal chromosomal findings. Suggestive ultrasonographic findings seem to justify the exclusive use of direct preparation.

Amniotic Fluid↗
PubMedDate not supplied

Inability to detect fetal metaphases in flow-sorted lymphocyte cultures based on maternal-fetal HLA differences.

Separation of fetal cells from maternal blood could provide a means for prenatal diagnosis that would not endanger the fetus. In this pursuit, we attempted cytogenetic analysis of candidate fetal cells flow sorted on the basis of parental HLA disparity. Metaphases showing 46,XY or aneuploidy and concordant with prenatal diagnostic studies (i.e., amniocentesis, chorionic villus sampling) would presumably be fetal in origin. Blood samples were obtained from 78 pregnant women and their partners. Among 18 HLA informative cases in which metaphases were recovered, 15 involved fetuses that were 46,XY or aneuploid. From these 15 cases, 2,483 metaphases were analyzed. All metaphases were 46,XX. Cytogenetic analysis of flow-sorted fetal cells thus probably will need to emphasize not metaphase analysis but in situ hybridization with chromosome-specific probes.

Amniocentesis↗
PubMed2004

Training in chorionic villus sampling: limited experience for US fellows.

OBJECTIVE: This study was undertaken to assess training availability, methods, and plans for future practice of invasive procedures for maternal fetal medicine (MFM) fellows. STUDY DESIGN: A survey was sent to all MFM fellows registered with the American Board of Obstetrics and Gynecology in March of 2001. RESULTS: Of 91 surveys, 55 (60.4%) were returned. All respondents were trained in second-trimester amniocentesis and planned on performing the procedure after fellowship. Of the 55 respondents, 53 (96.4%) were trained on continuing pregnancies. Despite 82% of training institutions performing chorionic villus sampling (CVS), only 24 of 45 (53%) fellows had availability for training. Of those 24, 14 (58%) initiated training on pregnancies that were undergoing termination. Median number of procedures performed by fellows (continuing pregnancies and before termination) was 3 (range 0-120), with 40 procedures (range 0-140) expected to be performed before completing fellowship. Twenty-eight fellows planned on performing CVS after training. CONCLUSION: The number of centers training MFM fellows in CVS and the number of procedures performed in the United States is limited.

Adult↗
PubMedDate not supplied

Role of ultrasonography in pregnancies with marker chromosome aneuploidy.

The objective of this report was to evaluate the effect of ultrasonographic (US) findings on pregnancy management in patients with marker chromosome (MC) aneuploidy ascertained through prenatal diagnosis. From 1989 through June 1993, 15,522 prenatal diagnostic procedures were performed for accepted indications. Charts of patients with MC on amniocentesis or chorionic villus sampling (CVS) karyotype were evaluated with respect to US anomalies, pregnancy complications, and outcome. Nineteen cases of MC were identified. The prevalence of MC in our study was 0.12% (1:816 procedures). No significant difference between CVS and amniocentesis was found: 5/19 (26%) were CVS specimens, which is comparable to our CVS (3,259/15,522) case distribution. Three cases with incomplete records were excluded from the analysis. Four inherited MC cases were identified: 1 case had anencephaly. Of the 12 de novo MC cases 4 (33%) had abnormal US findings, and an additional 4 were found to have cytogenetic evidence for partial trisomy. Seven of these 8 abnormal de novo MC cases were terminated. MC aneuploidy is more common in pregnancies sampled for usual genetic indications than previously reported in pediatric series. High-resolution US may identify a major malformation not etiologically related to a MC inherited from a normal phenotypic parent. The association of the novo MC with US anomalies confers a poor prognosis, suggesting the expression of genetic imbalance from the accessory chromatin (partial trisomy). However, when US appears normal on initial and follow-up examinations, the chances for a normal-phenotypic newborn are high.

Amniocentesis↗
PubMed1989

[Level of alpha-fetoprotein in maternal serum before and after chorionic villus sampling].

To evaluate incidence and severity of feto-maternal transfusion post-chorionic villus sampling (CVS), maternal serum AFP (MSAFP) were determined for 88 patients before and 15 minutes after CVS. To know whether MSAFP elevation could have clinical implications, a questionnaire was sent to the patients researching if they have had haemorrhages, temperature, spontaneous abortion or premature delivery in the period post CVS. Results of the present study indicate that 44.7% of patients present MSAFP significative elevation (greater than or equal to 8 micrograms/l), a variable elevation (from 8 to 423 micrograms/l). There is no relation between MSAFP elevation and unfavourable events post CVS.

Chorionic Villi Sampling↗
PubMed2004

Prenatal diagnosis of tetrasomy 9p with Dandy-Walker malformation.

OBJECTIVES: To add to the knowledge of chromosomal abnormalities associated with Dandy-Walker malformation. METHODS: Molecular cytogenetic analyses of a chorionic villus sampling and of an amniocentesis of a fetus with Dandy-Walker malformation and abnormal somatic development. RESULTS: All cells examined showed a 47, XY, +idic(9p)(pter-->q12::q12-->pter) de novo karyotype. This report describes the fourth case of a tetrasomy 9p associated with Dandy-Walker malformation. CONCLUSIONS: This case, together with the three previously reported cases of an association with a tetrasomy 9p, indicate that this chromosomal aberration should be looked for when Dandy-Walker malformation is detected via prenatal ultrasonography.

Adult↗
PubMedDate not supplied

A survey of attitudes about maternal serum screening for fetal chromosome abnormalities in women 35 years of age and older.

We asked two groups of women their opinion on prenatal diagnosis and maternal serum screening (MSS): group 1 comprised women who had undergone a prenatal diagnostic procedure (amniocentesis or chorionic villus sampling) for advanced maternal age (>/=35 years) and group 2 women who had undergone MSS and were 30-34 years old. Women in group 1 were found significantly less likely to choose MSS over prenatal diagnosis than were women in group 2. The sensitivity of MSS and the age-related risk of chromosome abnormalities influenced opinions on whether to choose MSS or prenatal diagnosis. In both groups, the majority stated that they would accept MSS over prenatal diagnosis, if their obstetrician recommended it.

Adult↗
PubMed1998

Estimating the spontaneous loss of Down syndrome fetuses between the times of chorionic villus sampling, amniocentesis and livebirth.

Recent publications concerning the prevalence of Down syndrome at times of chorionic villus sampling (CVS), amniocentesis and livebirth were reviewed with particular interest in estimates of spontaneous loss of Down syndrome fetuses during pregnancy. Data from several studies were combined to provide information on 258,206 pregnancies. A logistic regression was applied to provide new estimates and confidence intervals (CIs) for spontaneous loss rates between the time of CVS and livebirth (estimate = 39 per cent; 90 per cent CI 32 to 45 per cent), and the time of amniocentesis and livebirth (estimate = 12 per cent; 90 per cent CI 5 to 18 per cent).

Abortion, Spontaneous↗
PubMed2000

Prenatal diagnosis of a novel COL1A1 mutation in osteogenesis imperfecta type I carried through full term pregnancy.

Prenatal diagnosis was performed in a family where the father has osteogenesis imperfecta (OI) type I, with a novel mutation in the COL1A1 gene: a C to T change at position c3076 (c.3076C-->T) leading to a change of arginine at codon 848 to a stop codon (R848X). Prenatal diagnosis by chorionic villous sampling (CVS) was performed during the fourth pregnancy, and revealed that the fetus is a carrier of the same COL1A1 mutation. The possibility of phenotypic variability was discussed with the parents. They elected to carry the pregnancy to term, and a male child with mild OI was born. This is the first reported case where OI was diagnosed prenatally, and the parents opted to carry the pregnancy to term. It illustrates the potential use of DNA-based analysis for early prenatal diagnosis of OI, and the complexities of genetic counselling.

Adult↗