1.A case of 46,XX/46,XX, del(3)(q21) mosaicism in amniocentesis: diagnostic problems and clinical significance.
Korean Journal of Obstetrics and Gynecology 1991;34(11):1619-1624
No abstract available.
Amniocentesis*
;
Mosaicism*
2.Cytogenetic study of maker chromosome in amniocentesis.
Korean Journal of Obstetrics and Gynecology 1993;36(7):1275-1279
No abstract available.
Amniocentesis*
;
Cytogenetics*
3.A Cytogenetic Survey of 1788 Genetic Amniocenteses.
Sin Yong MOON ; Gyung Hoon GWON ; Nam Hee SONG ; Hye Won SUL ; Mi Gyung RO ; Hee Jung KO ; Sun Gyung OH ; Jung Ho HAN ; Gyu Hong CHOI ; Sun Mi KIM ; Joong Sin PARK ; Jong Gwan JEON ; Young Min CHOI ; Bo Hyun YOON ; Hee Chul SHIN ; Jin Yong LEE
Korean Journal of Obstetrics and Gynecology 2000;43(8):1486-1491
No abstract available.
Amniocentesis*
;
Cytogenetics*
4.A study on chromosome mosaicism and pseudomosaicism in 4,376 amniocenteses.
Korean Journal of Obstetrics and Gynecology 1991;34(9):1201-1208
No abstract available.
Amniocentesis*
;
Mosaicism*
5.Clinical Analysis of Midtrimester Amniocentesis.
Jong Youn NAM ; Sang Jun KIM ; Song E KIM ; Dong Ju YOU ; Joo Oh KIM ; Dae Woon KIM ; Seo Yoo HONG
Korean Journal of Perinatology 2001;12(2):138-144
No abstract available.
Amniocentesis*
;
Female
;
Humans
;
Pregnancy
;
Pregnancy Trimester, Second*
6.Six-years' Experience of Pseudomosaicism and Maternal Cell Contamination in Cultured Amniocytes.
Shin Yong MOON ; Byung Chul JEE ; Seok Hyun KIM ; Sun Kyung OH ; Joong Shin PARK ; Young Min CHOI
Journal of Genetic Medicine 1999;3(1):25-28
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
7.In Situ Culture and Harvest of Amniocytes using coverslip processing method.
Kyung Soon CHEONG ; Doyeong HWANG ; Dong Sook LEE ; Soo Kyung CHO ; Ki Chul KIM ; Eung Gi MIN
Journal of Genetic Medicine 1998;2(2):79-81
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
8.Objective and Quantitative Measurement of Meconium Content in Amniotic Fluid Using HEMA1.
Sang See PARK ; Eun Seok YANG ; Sea Hyuk HOO ; Jae Soo KIM ; Myung Hee LEE ; Yong LIM ; Sung Heui SHIN
Korean Journal of Perinatology 1999;10(3):306-313
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*
9.Prenatal Cytogenetic Studies in 937 Cases of Midtrimester Amniocentesis.
Sung Kyun KO ; Seung Yong KIM ; Young Gil CHOI ; Jung Seok KIM ; Hyun A JUN ; Hong Bae KIM ; Keun Young LEE ; Sung Won KANG
Korean Journal of Perinatology 2000;11(1):25-32
No abstract available.
Amniocentesis*
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Cytogenetics*
;
Female
;
Humans
;
Pregnancy
;
Pregnancy Trimester, Second*
10.An Experience of Using the Harmony Test for Genomics-Based Non-Invasive Prenatal Testing.
Dong Hee SEO ; Sung Eun CHO ; Jeong Ryull KWAK
Journal of Laboratory Medicine and Quality Assurance 2015;37(1):44-46
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
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Chromosome Aberrations
;
DNA
;
Down Syndrome
;
Prenatal Diagnosis
;
Trisomy