PURPOSE: FISH is suggested as a useful tool for rapid detection of specific aneuploidy in uncultured amniocytes abnormality in interphase nucleus. In this study, we are going to share our experience using FISH in prenatal diagnosis and suggest the criteria for the diagnosis of aneuploidy by analyzing the results of FISH test. METHODS: From January, 1999 to May, 2006, 8,613 tests in amniotic fluids obtained from 7,893 pregnant women were performed by using FISH for prenatal diagnosis of trisomy 21, trisomy 18 and trisomy 13. The indications of chromosome study were a screen positive for Down syndrome or Edwards syndrome in maternal serum marker screening test and an advanced maternal age (> or =35 years old). RESULTS: We have the 8,502 informative results from 8,613 tests (98.7%) which is submitted our criteria and the sensitivity is 98.2%. CONCLUSION: FISH on uncultured amniocytes is a rapid, clinically useful tool for prenatal diagnosis, with informative specimens being highly accurate. But the limitation of FISH is both expensive and labor-intensive.
Amniotic Fluid ; Aneuploidy* ; Biomarkers ; Diagnosis ; Down Syndrome ; Female ; Humans ; Interphase ; Mass Screening ; Maternal Age ; Pregnant Women ; Prenatal Diagnosis* ; Trisomy

Numerous methods for human body fluid identification using microbiological markers specific to different human body parts are well-established in forensic science. However, method for vaginal fluid screening have not been standardized yet. Therefore, in this study, a real-time polymerase chain reaction based assay for vaginal fluid identification was devised using bacteria residing in human vagina. This method employed three markers, namely Lactobacillus iners, Lactobacillus crispatus, and Bacteroides fragilis. L. iners and L. crispatus were chosen due to their high abundance in the vagina, whereas B. fragilis resides in the rectum. To examine the suitability of the new method for forensic microbial applications, a study of the distribution of vaginal flora in 143 Korean women was performed, along with characterization of the specificity, and performance of the new assay. Additionally, a casework study based on 130, 21, 20 and 17 DNA samples collected from the vagina, anus, saliva, blood, respectively, was carried out. L. iners (80.4%) and L. crispatus (55.2%) were detected with high abundance in the vagina of Korean women. The specificity of these markers was verified using microbial DNA from 23 species. This method could detect at least 1,000 copies/µL of microorganisms for all markers, thereby highlighting its robust sensitivity for vaginal fluid identification. The casework study confirmed these findings, with 89.2% (116/130) detection of vaginal fluid-derived DNA samples, and no false positives identified from the other sources studied. In conclusion, the developed method is expected to be efficient for preliminary microbiological analysis of vaginal samples in forensics.

46,XX male is a rare sex constitution characterized by the development of bilateral testis in persons who lack a Y chromosome. Manifestations of 46,XX males are usually hypogonadism, gynecomastia, azoospermia, and hyalinations of seminiferous tubules. The incidence of XX male reversal is approximately 1 in 20,000 male neonates. The SRYgene is located at the short arm of the Y chromosome(Yp11.31) and codes for testis determining factor in humans. Here, the patient, who presented with a normal male phenotype, was referred for azoospermia. Conventional cytogenetic analysis showed a 46,XX karyotype. Quantitative fluorescent polymerase chain reaction(QF-PCR) and Multiplex PCR studies identified SRY gene. And, Fluorescence In Situ Hybridization(FISH) confirmed the SRY gene on the distal short arm of chromosome X. We identified the SRY gene on the distal short arm of chromosome X by molecular cytogenetic and molecular analyses. Therefore, molecular-cytogenetics and molecular studies were proved to be clinically useful adjunctive tool to conventional prenatal cytogenetic analysis.
Arm ; Azoospermia ; Constitution and Bylaws ; Cytogenetic Analysis ; Cytogenetics ; Fluorescence ; Genes, sry ; Gynecomastia ; Humans ; Hyalin ; Hypogonadism ; Incidence ; Infant, Newborn ; Karyotype ; Male ; Multiplex Polymerase Chain Reaction ; Phenotype ; Seminiferous Tubules ; Sex-Determining Region Y Protein ; Testis ; Y Chromosome