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PubMed1992

Tetraploidy in human placenta. A dilemma in molar and non-molar pregnancies.

17 cases of partial molar pregnancy were analysed cytogenetically by the direct-preparation method. Eight partial moles were triploid, 7 diploid/tetraploid mosaic, and 2 tetraploid. In the course of prenatal cytogenetic screening, out of 1,263 chorionic villus samplings, 2 tetraploid and 1 diploid/tetraploid cases were found. These cases of partial moles do not fit into the usual patterns of triploid partial moles. The findings presented here suggest that different causative factors may be involved in the origin of molar degenerations. These results also call to attention that tetraploidy is an existent and relatively common abnormality.

Adult↗

PubMed1996

DNA-based diagnostics for adrenoleukodystrophy in a large New Zealand family.

AIM: To develop a DNA-based diagnostic test for adrenoleukodystrophy (ALD) in a large New Zealand family. METHODS: Mutation screening of the X chromosome-linked ALD gene was undertaken by direct sequencing of PCR amplified products encompassing defined exons of the ALD gene. The identification of a mutation led to the development of a simple restriction enzyme digestion protocol of a PCR amplified product to identify those individuals with the mutation. RESULTS: A nonsense mutation, resulting in deduced premature termination of translation of the ALD gene product, was detected in exon 4 of the ALD gene in an affected male. This mutation was found in three obligate gene carriers in the same ALD family. A DNA-based test was established to identify this mutation by Bgl II digestion of a PCR amplified product encompassing exons 3 and 4 of the ALD gene. The DNA-based test was applied to a chorionic villus sampling for prenatal diagnosis. CONCLUSIONS: A simple DNA-based test has been developed for ALD in a large New Zealand family. This test provides a rapid means of determining carrier status and for undertaking prenatal diagnosis for ALD in this family.

Adolescent↗

PubMed1998

Evaluation of the BeTha gene 1 kit for the qualitative detection of the eight most common Mediterranean beta-thalassemia mutations.

We describe the evaluation of the Bio-Rad BeTha Gene 1 kit (Bio-Rad Laboratories, Hercules, CA), a DNA-probe assay designed for the qualitative determination of the eight most common Mediterranean beta-thalassemia mutations. The kit utilizes the principle of allele-specific oligonucleotide (ASO) hybridization. Following sample preparation and in vitro DNA amplification by the polymerase chain reaction (PCR), an allele-specific detection of the amplified products by a nonradioactive enzymatic assay is performed. Genomic DNA is prepared from an individual's whole blood with a DNA purification matrix. In a second step, the beta-globin gene is amplified in a multiplex PCR reaction containing four 5' biotinylated oligonucleotide primers. In a final step, an aliquot of the PCR reaction is first chemically denatured and then captured in two eight-well strips of a 96-well enzyme-linked immunosorbent assay (ELISA) plate by hybridization to an immobilized ASO probe. Each DNA sequence at each of the eight mutation sites is represented by one normal and one mutant ASO. During this capture/hybridization step, which is performed at 37 degrees C, only perfectly matched PCR products will be captured by an ASO. Subsequently, the allele-specific captured biotin-labeled PCR products are detected by a colorimetric enzymatic reaction. The system permits the detection of 16 beta-thalassemia alleles using a high-throughput format that can be automated easily. A clinical feasibility study was performed to evaluate the functionality (method comparison study, assay validity using samples previously collected and stored at various temperatures for different periods of time, interference on kit performance, and assay validity for prenatal diagnosis) and the usability (ease of use, sample throughput) of the kit. The analysis of 110 samples previously studied with reference methods showed 100% clinical sensitivity and specificity. We demonstrate here that the procedure not only increases the throughput of beta-thalassemia allele genotyping but also provides an accurate, rapid, reliable, and nonisotopic diagnostic tool.

Alleles↗

PubMed2006

Detection of cell-free fetal DNA in maternal urine.

OBJECTIVE: To evaluate the presence of cell-free fetal DNA signals in maternal urine as a potential source of material for non-invasive prenatal diagnosis. STUDY DESIGN: Patients referred to the regional fetal medicine unit who underwent prenatal diagnosis by chorionic villus sampling (CVS) were asked to give blood and urine immediately before the procedure. Maternal blood and urine were centrifuged at 10,000 g for 10 min. Plasma (1 mL) and urine (1 mL) supernatant were transferred to a clean tube and centrifuged again. The plasma (0.8 mL) and urine (0.8 mL) supernatant were removed without disturbing the cell pellet and stored at - 80 degrees C. Following DNA extraction, each sample was tested for the presence of Y chromosome associated DYS14 gene using real-time polymerase chain reaction (PCR). The total amount (maternal and fetal) of DNA in each sample was estimated using a quantitative real-time PCR assay. RESULTS: Twenty patients were enrolled in the study. CVS was performed at a median gestational age of 13 weeks (range 11 + 5 - 14 + 1). There were 12 male and 8 female fetuses, as confirmed by karyotype. Y chromosome DNA was not detected in any of the 20 samples of maternal urine, including 12 of the 20 samples in which Y chromosome DNA was detected in maternal plasma (all of whom were subsequently confirmed to be carrying a male fetus). There was considerable variation in the amount of total free DNA detected in maternal urine. CONCLUSIONS: Cell-free fetal DNA either was not present or did not amplify in maternal urine.

Biomarkers↗

PubMed1992

Chorionic villus metaphase chromosomes and interphase nuclei analysed by chromosomal in situ suppression (CISS) hybridization.

Metaphase chromosomes and interphase nuclei of chorionic villus samples (CVS) in five cases were studied after treatment with trypsin and post-fixation in formaldehyde by chromosomal in situ suppression (CISS) hybridization. Our modified protocol enables the use of in situ hybridization techniques on CVS preparations after 42 h of culture. A balanced translocation and trisomy 13 were identified with the aid of CISS hybridization.

Chorionic Villi Sampling↗

PubMed1994

Prenatal diagnosis of glutaryl-CoA dehydrogenase deficiency: experience using first-trimester chorionic villus sampling.

We have performed prenatal diagnosis for glutaryl-CoA dehydrogenase (GDH) deficiency in 16 pregnancies at risk by measuring the enzyme activity in chorionic villus samples. In most cases, GDH activity was measured both in uncultured chorionic villus samples and in cultured chorionic cells. In 4 of the 16 cases, an affected fetus was predicted, while the remaining cases were found to be normal. In three of the four affected cases, GDH activity was measured in both uncultured and cultured chorionic cells and the correct diagnosis established by both measurements. In the fourth case, only cultured cells were investigated because the chorionic villus sample was too small for the direct assay. All four pregnancies predicted to be affected were interrupted and the diagnoses confirmed on the aborted material in three of the cases. In the fourth case, no material was available for investigation. Of the 12 pregnancies predicted to be unaffected, ten cases resulted in the birth of healthy unaffected babies while two pregnancies are still in progress.

Amniocentesis↗

PubMed2003

Development and targeted application of a rapid QF-PCR test for sex chromosome imbalance.

OBJECTIVES: A QF-PCR test has been developed to diagnose sex chromosome imbalances in prenatal samples and has been applied to a diagnostic service. METHODS: The test uses a PCR multiplex with eight primer pairs: six X-chromosome polymorphic markers, including two markers from Xp (a region not included in previously published sex chromosome aneuploidy tests), one polymorphic marker for a locus common to the long arms of the X and Y chromosomes, and the non-polymorphic amelogenin marker. Homozygosity for all X-chromosome markers and the absence of the Y-chromosome amelogenin marker is highly likely (907 : 1) to represent monosomy X (Turner syndrome), but interphase FISH is always used to confirm such a result. RESULTS: Blind studies were carried out to validate the test and the first year of clinical use has been reported. Results are usually issued within one working day, and the test is more efficient than interphase FISH. CONCLUSIONS: The sex chromosome imbalance test has been targeted to prenatal samples displaying a clear ultrasound indication consistent with Turner syndrome, and has also been used to identify fetal sex in pregnancies at risk of inheriting a sex-linked molecular disorder. No misdiagnoses were made. It is concluded that QF-PCR can rapidly and accurately diagnose sex chromosome status and imbalances, reducing maternal anxiety and aiding in efficient pregnancy management.

Amelogenin↗

PubMed1992

The smaller than expected first-trimester fetus is at increased risk for chromosome anomalies.

OBJECTIVE: Intrauterine growth retardation associated with fetal chromosome anomalies is usually documented on ultrasonography late in the second trimester. However, we believe and attempt to document here that the impact of aneuploidy on fetal growth is evident much earlier (i.e., the aneuploid fetus may appear smaller than dates on ultrasonography even in the first trimester). STUDY DESIGN: For the population referred to our center for chorionic villus sampling from January 1988 to July 1991, we compared gestational age as calculated from the last menstrual period to that derived from fetal size as measured by crown-rump length. A cutoff of 7 days was chosen to select the study group. The remainder of our chorionic villus sampling population in which fetal size was expected was used as controls. We also divided those chorionic villus sampling patients by when a fetal death was observed by size. RESULTS: In the study period 3194 chorionic villus sampling procedures were performed and in 277 (8.7%) fetal length was smaller than expected by at least 7 days. Sixty (1.9%) chromosome anomalies were diagnosed by first trimester chorionic villus sampling in the study period. The frequency of chromosome anomalies was 4.3% in the study group and 1.7% in controls (p < 0.004). The more aberrant the karyotype on "postmortem chorionic villus sampling," the greater the growth retardation tended to be. CONCLUSIONS: In our chorionic villus sampling population a fetal crown-rump length smaller than dates is associated with a significant increase in risk of chromosome anomalies. Moreover, the larger the size-dates discrepancy, the higher the possibility that the aneuploidy affecting that pregnancy is of the severe or lethal type.

Adult↗

PubMed1990

Isolation of fetal trophoblast cells from peripheral blood of pregnant women.

Fetal trophoblast cells were isolated from maternal peripheral blood by means of murine monoclonal antibodies of high specificity and affinity for human syncytiotrophoblast and nonvillous cytotrophoblast cells. The cells were isolated in sufficient numbers to allow polymerase chain reaction (PCR) amplification of the Y-chromosome-specific DNA sequence from the peripheral blood of thirteen pregnant women. The fetal sex predicted by PCR analysis of the isolated trophoblast cells accorded with that ascertained by karyotyping of chorionic villus samples in eleven of twelve women studied in early pregnancy and with the sex of the baby on delivery in one woman studied at 34 weeks' gestation. Isolation of these fetal cells could allow noninvasive diagnosis of a wide range of inherited disorders.

Antibodies, Monoclonal↗

PubMed1990

Chorion villus sampling--transcervical or transabdominal?

Chorion villus sampling was performed transcervically on 84 patients and transabdominally on 126 patients. Two of 4 (5%) spontaneous abortions in the transcervical group were complicated by uterine infection. Five (4%) spontaneous abortions in the transabdominal group were uncomplicated by infection. The results support the contention that the transabdominal method may be safer and that the procedure related fetal loss rate is similar to that following amniocentesis.

Abdomen↗

PubMed1990

[Evaluation of diagnostic potential of various methods of chorionic sampling in the first trimester of pregnancy].

Potentials of the most common chorionic sampling methods have been examined: transcervical biopsy (TCB) (n-65), transcervical aspiration (TCA) (n-63) and transabdominal aspiration (TAA) (n-10). These procedures were done in outpatient settings at 6-12 week's gestation with sonographic guidance using accepted methodologies. TCB and TCA yielded 14.3 mg and 27.5 mg of a sample, respectively. The chorionic sample obtained with TAA was at best 3 mg. The incidence of successful chorionic sampling was 92.4% for TCB, 76.1% for TCA and 80.0% for TAA. Spontaneous abortions occurred after TAA (7.9%) and combined transcervical procedures (10%). These results suggest a potential of TCB and TCA in first-trimester prenatal diagnosis, but TCB has a number of advantages. TAA is a promising technique which, however, requires further sophistication.

Adult↗

PubMed1991

Is placental mosaicism associated with poor perinatal outcome?

In 37 pregnancies with placental mosaicism detected at first-trimester chorionic villus sampling in 2000 pregnancies, two pregnancies (5.4 per cent) ended in a spontaneous abortion at 15 weeks (46,XX 47,XX, + 16) and in a perinatal loss in a term pregnancy (46,XY/47,XY, + 10), respectively. The outcome of the other 35 pregnancies was normal. The total pregnancy loss rate before 28 weeks in the first 1000 pregnancies was previously reported to be 3.6 per cent.

Abortion, Spontaneous↗

PubMed1999

Down's syndrome: prospects for prevention by antenatal diagnosis.

UNLABELLED: The results of a prospective study on cytogenetic analysis of Chorionic Villus Samples (CVS) taken in early pregnancy (after 10 weeks) from pregnant ladies aged between 22 and 50 years are being presented. OBJECTIVE: To find out the prevalence of chromosomal defects with advancing age of the mother. SETTING: Department of Medical Genetics, Armed Forces Institute of Pathology, Rawalpindi. METHODS: A total of 48 samples have been studied. Ten patients were above the age of 35 years and 38 were below the age of 35 years. Chorionic villus samples were obtained after 10th week of pregnancy through transabdominal approach. Cytogenetic cultures were set up both by the direct and routine methods. RESULTS: Three out of the seven samples taken from expecting mothers aged above 35 and one culture from a patient aged less than 35, showed trisomy 21. CONCLUSION: This study highlights the fact that incidence of chromosomal aberrations and the Down's syndrome in particular, increases with the advancing maternal age. Prenatal studies can therefore be utilized to decrease the incidence of various chromosomal abnormalities.

Adult↗

PubMed1989

Translocation trisomy 21 in CVS not found in embryoblast: three different cell lines in CVS, amnion- and placental culture.

Chorionic villus samples from a healthy pregnant female were obtained for first-trimester prenatal diagnosis. A translocation trisomy 21 was diagnosed. A consecutive amniocentesis revealed a normal male karyotype. At term a healthy boy was born. Cytogenetic analysis from cord blood showed a regular karyotype of 46,XY, whereas in term placenta a pathological karyotype of 47,XY, +mar was found.

Adult↗

PubMed1997

Chorionic villus sampling.

Chorionic villus sampling (CVS) has been used a successful and safe first-trimester prenatal diagnostic technique for over 12 years. Developed to avoid the medical and psychological complications of later prenatal diagnosis by amniocentesis, CVS rapidly has become a primary tool for the diagnosis of fetal cytogenetic, molecular, and biochemical disorders. In addition, its development has led to an improved understanding of several biological processes, including confined placental mosaicism and uniparental disomy.

Chorionic Villi Sampling↗

PubMed1997

Prenatal exclusion of segmental trisomy in familial chromosome 21 pericentric inversion by fluorescence in situ hybridization.

We report the prenatal exclusion of partial trisomy in a family with maternal pericentric inversion of chromosome 21 by fluorescence in situ hybridization (FISH). After determining the structural rearrangement in the mother and her affected son with 46,XY,rec(21)dup(21q)inv(21)(p11q22) resulting in Down syndrome (DS), a chorionic villus sample from the current pregnancy was analysed for the copy number of the DS critical region with a cosmid contig. The signal distribution was normal and the cytogenetic analysis revealed that the fetus had inherited the inverted chromosome 21 in a balanced form. FISH probes specific for the DS region are of great value in supporting cytogenetic results, regardless of the structural status of chromosome 21.

Adult↗

PubMed1987

Prenatal enzymatic diagnosis and exclusion of Krabbe's disease (globoid-cell leukodystrophy) using chorionic villi in five risk pregnancies.

Galactosyl ceramide beta-galactosidase activity was determined in chorionic villi (CV) samples obtained between the 9th and 11th weeks of gestation from 5 women with pregnancies at risk for Krabbe's disease (globoid-cell leukodystrophy, KD). These enzyme activities were compared with those in controls, as well as with those in cultured amniotic fluid cells (AFC) from one of the five at-risk pregnancies and from 29 KD-risk pregnancies studied previously. The results of these CV enzyme analyses were such that one case of fetal KD was clearly diagnosable, one fetal genotype heterozygous for KD was presumed, and three normal fetal genotypes were suggested. The use of both uncultured and cultered CV can be recommended for prenatal KD testing, but AFC may continue to play an important role, too. Of the 58 prenatal KD tests we have evaluated since 1974, a positive diagnosis of Krabbe's disease was made (and confirmed after termination of pregnancy when feasible) in 23 which is significantly more than 25% of 58.

Adult↗

PubMed1993

Chorionic villus sampling: quality control--a continuous improvement model.

OBJECTIVE: Our purpose was to describe Vanderbilt University Medical Center's experience in establishing a chorionic villus sampling program and the importance of quality control along with a continuous improvement model on the first 1000 cases. STUDY DESIGN: A continuous improvement model was established with emphasis on a multidisciplinary team approach and quality assurance process. A computerized data base was used for continuing analysis of complications and for allowing facile access to pertinent information. RESULTS: A continuous improvement model allowed for an improved process and outcome for patients, personnel, and referring health care providers. Follow-up for initial symptoms after chorionic villus sampling was obtained on 98.5% of patients. Pregnancy follow-up, including birth data, was obtained on 93%. CONCLUSION: A continuous improvement mode from the project's onset resulted in an improved process and outcome, information helpful for accessing spontaneous abortion rates and pregnancy outcomes (including the incidence of limb abnormalities and factors associated with abortions) and recommendations for training personnel.

Abortion, Spontaneous↗