No abstract available.
Amniocentesis* ; Mosaicism*

No abstract available.
Amniocentesis* ; Cytogenetics*

No abstract available.
Amniocentesis* ; Cytogenetics*

No abstract available.
Amniocentesis* ; Mosaicism*

No abstract available.
Amniocentesis* ; Female ; Humans ; Pregnancy ; Pregnancy Trimester, Second*

PURPOSE : To present our experiences in pseudomosaicism or maternal celi contamination in genetic mid-trimester amniocentesis confirmed through percuraneous umbilical blood sampling. METHODS : From 1992 to 1997, repeated cytogenetic evaluation with fetal cord blood was carried out in 14 cases showing mosaic patterns. RESULTS : We confirmed pseudomosaicsm in 12 cases (85.7%) by repeated cytohenetic evaluation, and also maternal cell contamination in 2 cases. CONCLUSIONS : Repeated cytohenetic evaluation via percutaneous umbilical blood sampling was a rapid and useful method fof the confirmation of mosaicism resulted from genetic mid-trimester amnicentesis.
Amniocentesis ; Cordocentesis ; Cytogenetics ; Fetal Blood ; Mosaicism

Genetic amniocenteses were performed in a series of 127 patients as a routine study. Samples from the patients were cultured by in situ method, flask method or both according to the state of amniotic fluid. The overall success rate of culture was 97.6% and no culture failure was observed in the flask method. It took 5 days first of all and 8.15 days average from set-up to harvest and there were 7.2 colonies per dish in in situ method. Therefore, it is suggested that in situ method which decreased the mean culture days and made clonal analyses possible, is a clinically available and even more reliable method in parallel with flask method in prenatal diagnosis.
Amniocentesis ; Amniotic Fluid ; Female ; Humans ; Prenatal Diagnosis

OBJECTIVE: The content of meconium in amniotic fluid(AF) is important for assessing the risk of several perinatal problems. This estimate is usually performed subjectively by visual inspection. The purpose of this study is to evaluate the clinical usefulness of meconium-crit method as an objective method for quantitative measurement of meconium content in AF. METHODS: Seventy of AF samples were obtained with amniocentesis from the pregnants of 30 weeks and over. Twenty-four of meconium-stained AF(MSAF)samples among them were separated through the subjective and gross assessment of clinicians. MSAF samples, except for the two samples contaminated by blood, were again divided into two categories: AF with fresh-meconium (11 samples) and AF with old-meconium(11 samples). Absorption spectra and meconium-crit of the samples were measured. RESULTS: Correlation coefficients between meconium-crit and absorption spectra at 425nm were 0.741 for 11 AF with fresh meconium, 0.255 for AF with old meconium and 0.354 for all MSAF samples. Those at 550nm were 0.934 for 11 AF with fresh meconium, 0.669 for 11 AF with old meconium and 0.639 for all MSAF samples. Those at 700nm were 0.916 for 11 AF with fresh meconium, 0.680 for 11 AF with old meconium and 0.706 for all MSAF samples. Analyses of correlation coefficients show very good or excellent relationship between absorption spectra and meconium-crit for AF with fresh meconium while little or moderate relationship for AF with old meconium. CONCLUSIONS: Therefore meconium-crit can be used as the objective and quantitative method that can measure meconium content in AF although variable results are shown in AF with old meconium.
Absorption ; Amniocentesis ; Amniotic Fluid* ; Female ; Meconium*

No abstract available.
Amniocentesis* ; Cytogenetics* ; Female ; Humans ; Pregnancy ; Pregnancy Trimester, Second*

Serological prenatal screening tests are widely used to detect fetal chromosomal abnormalities such as Down and Edward syndromes. Amniocentesis is conducted as a confirmatory test in the screening-positive case. After discovering of presence of fetal cell-free DNA in maternal blood, non-invasive prenatal test (NIPT) coupled with next generation sequencing are performed in abroad. Results of genomics-based NIPT results supplied to Labgenomics laborotory from June, 2013 to August, 2014 were analyzed. Maternal blood samples were collected into specific Cell-Free DNA BCT tube and were transported. The samples were then delivered to Ariosa Diagnostics by FEDEX. Fetal cell-free DNA samples were analyzed using the Harmony test with sequencing of relevant chromosomes and by using the FORTE (fetal-fraction optimized risk of trisomy evaluation) algorism at Ariosa Diagnostics. In all, 149 cases from 28 medical clinics were analyzed. Six subjects were required recollection of samples because of a low fetal DNA fraction in the initially obtained samples. Of these 6 subjects, no sample could be collected from one. Of the remaining 148 cases, 144 had a low risk of trisomy, and 4 had a high risk for Down syndrome, thus providing a positivity percentage of 2.7%. Fetal DNA fraction in the maternal blood samples ranged from 4.2% to 23.7% with a mean value of 12.0%. We have experienced cases with a high risk for Down syndrome with genomics-based NIPT referred to abroad.
Amniocentesis ; Chromosome Aberrations ; DNA ; Down Syndrome ; Prenatal Diagnosis ; Trisomy