Rapid prenatal diagnosis of chromosome aneuploidies in 943 uncultured amniotic fluid samples by fluorescence in situ hybridization (FISH)

PURPOSE: Fluorescence in situ hybridization (FISH) on uncultured amniotic fluid cells offers the opportunity for rapid screening of aneuploidies and has become an integral part of the current practice in many clinical cytogenetics laboratories. Here, we retrospectively analyzed the results of interphase FISH in 943 amniotic fluid samples and assessed the efficiency of FISH for rapid detection of aneuploidies. METHODS: Interphase FISH for chromosome 13, 18, and 21 was performed in 943 consecutive amniotic fluid samples for rapid diagnosis of aneuploidies referred from 2004 to 2006. Karyotypes from standard cytogenetic analysis were compared to the FISH results. RESULTS: A total of 45 chromosomal rearrangements (4.8%) were found after conventional cytogenetic analysis of the 943 amniotic fluid. After exclusion of known familiar chromosomal rearrangements and inversions (2.1%, 20/943), 2.7% (25/943) were found to have chromosomal abnormalities. Of this group, 0.7% (6/943) were chromosomal abnormalities not detectable by FISH and 2.0% (19/943) were numerical abnormalities detectable by FISH. All 14 cases of Down syndrome (Classic type, 13 cases; Robertsonian type, 1 case) and 5 cases of trisomy 18 were diagnosed and detected by FISH and there were no false-positive or -negative results (specificity and sensitivity=100%). CONCLUSION: The present study demonstrates that FISH can provide a rapid and sensitive clinical method for prenatal identification of chromosome aneuploidies. However, careful genetic counseling is essential to explain the limitations of FISH, including the inability to detect all chromosomal abnormalities and the possibilities of uninformative or false-negative results in some cases.

Clinical and Cytogenetic Findings on 31,615 Mid-trimester Amniocenteses / 대한진단검사의학회지

BACKGROUND: Since amniocentesis made prenatal diagnosis feasible in 1967, the method has become a popular tool in obstetric practices. In Korea, the demand for genetic counseling and prenatal tests has increased markedly because the number and proportion of pregnancies in women aged 35 yr and older have increased over a 20-yr period. Here we report clinical and cytogenetic findings on 31,615 mid-trimester amniocenteses. METHODS: To investigate the changes in the annual number of amniocentesis, distribution of indications and age, and cytogenetic findings and abnormality rate according to indications, this study retrospectively analyzed 31,615 cases of mid-trimester amniocentesis performed at Seoul Clinical Laboratories, an independent medical laboratory center, during the past 13 yr (1994-2007). RESULTS: The annual number of amniocenteses has increased substantially since 1994. Among the 31,615 amniocentesis cases, the maternal age between 30 and 34 yr was the most common age group (35.4%). Among clinical indications, abnormal maternal serum screening results have been the most common indication for amniocentesis since 1994. Chromosomal abnormalities were detected in 973 cases (3.1%). Down syndrome was the most common abnormality found (36.9%, 359/973). In sex chromosomal abnormalities, 53 cases of Turner syndromes, 32 cases of Klinefelter syndromes, 20 cases of triple X syndromes, and 15 cases of 47,XYY were diagnosed. Of structural rearrangements, reciprocal translocations between two autosomes were the most common (15.5%, 151/973). Abnormal ltrasonographic findings showed the highest positive predictive value (5.9%) among the clinical indications. CONCLUSIONS: The present study could be used for the establishment of a database for genetic counseling. The discovery of an abnormality provides the option of termination or continuation in the pregnancy, a more suitable obstetric management in Korea.

Common Mutation of Methylenetetrahydrofolate Reductass and Homocysteine in Patients with Coronary Artery Disease / 대한면역학회지

Recently the alanine/valine (A/V) polymorphism of the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene, one of the key enzymes catalyzing remethylation of homocysteine, has been reported to its association with coronary artery disease. lhe homozygous of C677T mutation (VV genotype) correlates with increased plasma homocysteine levels as a result of the reduced activity and increased thermolability of MTHFR. We investigated whether this rnutation and homocysteine influence risk for coronary artery disease (CAD) in normal control subjects and CAD patients and two risk groups, A (>2 risk factors) and B (<1 risk factor). The MTHFR genotype and plasma homocysteine were determined by PCR followed by HinA digestion and high performance liquid chromatography (HPLC) system, respectively. From this study, statistical significance of V mutation of MTHFR between four groups was not found. Homocysteine level was the highest in CAD patients and the lowest in risk group B. Plasma homocysteine level in VV genotype of CAD patients was significantly higher than in other two genotypes and normal control subjects. We concluded that homozygisty for the C677T mutation of MTHFR was not an independent risk factor of CAD but associated with a prediposition to increased plasma homocysteine levels in CAD patients.

The Clinical Usefulness of Combination Assay of MG7 - Ag and CEA in Gastric Cancer / 대한면역학회지

Recently new tumor marker, MG7-Ag has been introduced for screening of gastric cancer. In this study MG7-Ag and CEA in sera of 50 normal healthy Koreans and 48 patients with gastric cancer group were determined to elucidate the clinical usefulness for gastric cancer screening. Commercial Enzyme Immuno Assay kits were used for analysis of above two markers. Sensitivity of MG7-Ag and CEA in patient group were found to be 43.8% and 41.7%, respectively. When the two markers were used combind, sensitivity increased to 62.5%. The concentration of MG7-Ag in patients (9.2+11.7 U/mL) was five times higher than normal control group (1.81+1.63 U/mL). CEA was 31.2+46.5 ng/mL in patients and 2.24+0.98 ng/mL (MeanSD) in normal control group. From this results, combination assay of MG7-Ag and CEA is more useful in clinical laboratories for screening gastric cancer than using one marker.

The Effects of Long-Term Plasmapheresis on Donors / 대한수혈학회지

BACKGROUND: Although many studies have demonstrated the well tolerance of intensive and long-term plasmapheresis in healthy donors, the effects on Korean donors have not been carefully investigated. Thirty donors were studied to investigate the effects of long-term plasmapheresis on Korean volunteer donors. METHODS: Thirty donors who had donated plasma regularly over a period of 3 years were selected. They were divided into group 1, 2 and 3 by the frequency of plasmapheresis per year and group A, B and C by the number of whole blood donations. Three of them had follow-up data at 7 days after. Whole blood was taken from the donors both before and after plasmapheresis by Fenwal Autopheresis-C system. Each sample was assayed for CBC, plasma total protein, albumin, IgG, IgA, IgM, ferritin and plasma hemoglobin. RESLUTS: For total protein, albumin, IgG, IgA and IgM, all the donors showed values in the normal range even with significant decreases after plasmapheresis. And there were no differences between groups. For ferritin, the mean values before and after plasmapheresis were 19.2 +/- 15.1 ng/mL and 17.8 +/- 15.2 ng/mL, respectively. In group 3 with highest frequency of plasmapheresis, the mean ferritin value was significantly lower than that of other groups as 7.3 +/- 5.0 (p<0.00.) Furthermore, the value was lower than 10 ng/mL which is the indicative value of iron depleted status. CONCLUSION: Long-term plasmapheresis donors had no significant changes in total protein, albumin, IgG, IgA and IgM. But they had mean ferritin values lower than the indicative value of iron depleted status. This implies that intensive and long-term plasmapheresis, might result iron depletion in donors. Consequently, a monitoring system to take care of regular plasmapheresis donation should be established.

HLA-DRB1 Polymorphism Determined by a High Resolution Sequencing Based Typing in Unrelated Korean Marrow Donors / 대한면역학회지

No abstract available.

Development of Enzyme Immuno Assay for Prostate Specific Antigen ( PSA ) / 대한면역학회지

No abstract available.

Development of Enzyme Immuno Assay Kit for Alpha Feto Protein / 대한면역학회지

No abstract available.

A validation study of four single locus probes (MS1, MS31, MS43 and g3) in a Korean population: further evaluation for paternity testing

Hypervariable tandem repetitive regions in human DNA are proving to be increasingly useful for genetic analysis in humans. We chose four single locus probes (SLP; MS1, MS43, MS8 and g3) for a validation test among Koreans. The specimens were from 216 unrelated individuals and 33 paternity inclusion families. Extracted DNA from EDTA blood was restricted by Hinfl and electrophoresed in 0.7% agarose gel, transferred and hybridized with chemiluminescent probes. Heterozygosity was over 90% by all of the probes. Total numbers of unassignable mutant bands from 33 paternity inclusion cases were 5, and the highest mutation rate was determined in probe MS1(0.045). The probability of having the same DNA band between two unrelated individuals was 5.7 x 10(-10) when four SLPs were used at the same time. The data presented here on allele frequencies and mutation rates provide preliminary data supporting the validity of these probes in paternity analysis and forensic investigators in the Korean population.

Angiomyxoma of Umbilical Cord: A case report

Tumors of umbilical cord, especially angiomyxoma, are extremely rare lesions. To our knowledge, five cases of angiomyxoma have been reported previously in the umbilical cord. Sonography two weeks after the finding of an elevated serum alpha-fetoprotein, detected a mass of the umbilical cord in a 27-year-old multiparous woman at 18(+3) weeks gestation. Previous sonogram was normal (11 weeks gestational age). At 26 weeks, a premature female infant was delivered by induction and a mass was located in the region of placental insertion of the cord. Section through the mass revealed rubbery myxoid appearance. Microcopically, numerous small vascular channels with thin walls were embedded in loose myxoid matrix. A case of angiomyxoma of umbilical cord with elevation of serum alpha-fetoprotein is presented together with a review of the literature. We hope that this case will help define the natural history of primary angiomyxoma of umbilical cord.

A serological study of hepatitis E virus infections in Korea / 대한임상병리학회지

No abstract available.