• Proceedings of the Korean Society of Precision Engineering Conference
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• 2007.06a
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• pp.399-400
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• 2007

• Proceedings of the Korean Society of Precision Engineering Conference
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• 2007.06a
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• pp.401-402
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• 2007

• Proceedings of the Korean Society of Precision Engineering Conference
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• 2007.06a
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• pp.391-392
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• 2007

• Proceedings of the Korean Society of Precision Engineering Conference
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• 2010.11a
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• pp.683-684
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• 2010

• Proceedings of the Korean Society of Precision Engineering Conference
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• 2011.06a
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• pp.309-310
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• 2011

• Journal of Genetic Medicine
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• v.5 no.2
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• pp.125-130
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• 2008

Propose: To analyze the indications and cytogenetic results of midtrimester amniocentesis. Material and Methods: This study reviewed 2,523 cases of midtrimester prenatal genetic amniocentesis performed at MizMedi Hospital between January 2000 and December 2007. Results: The most frequent indication for midtrimester amniocentesis was advanced maternal age (45.9%), followed by positive serum markers (29.9%). Chromosomal aberrations were diagnosed in 110 cases (4.4%), for which numerical aberration accounted for 38 cases (34.5%), structural aberration accounted for 65 cases (59.1%), and mosaicism accounted for 7 cases (6.4%). Among the autosomal aberrations, there were 20 cases of trisomy 21 and 8 cases of trisomy 18. With respect to structural aberrations, there were 14 cases of reciprocal translocation and 8 cases of robertsonian translocation. The frequencies of chromosomal aberrations according to the indication were highest in individuals with a family history of chromosome abnormality 14.0% (8/57) followed by previous congenital anomaly 5.9% (2/34). Conclusion: Midtrimester amniocentesis is an effective tool for prenatal diagnosis. Indications such as advanced maternal age, maternal serum markers, and ultrasound are important for predicting abnormal fetal karyotypes.

• Development and Reproduction
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• v.16 no.2
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• pp.95-100
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• 2012

Bisphenol A (BPA), a chemical with weak estrogenic activity is reported to affect preimplantation embryos, fetuses and alter their postnatal development. This study amied to determine the relation between the levels of BPA in the amniotic fluid and pregnancy outcomes. ELISA was used to measure amniotic fluid BPA in 120 pregnant women who underwent genetic amniocentesis at 15~20 weeks gestation. The most common indication for amniocentesis was advanced maternal age (35 yrs or older). BPA was detected in all amniotic fluid. The range of amniotic fluid BPA concentrations was from 0.89 ng/mL to 37.13 ng/mL with a mean level of 7.24 ng/mL. We compared the means of amniotic fluid BPA concentrations according to maternal age (${\geq}35$ vs. <35 yrs), fetal sex (male vs. female), gestational age at birth (${\geq}37$ vs. <37 weeks), and infant birth weight (${\geq}2.5$ vs. <2.5 kg). No significant differences were found in these outcomes. This is the first report of amniotic fluid BPA levels in Korean pregnant women. Our findings suggest that BPA may not affect the pregnancy outcomes such as fetal sex, preterm delivery and low birth weight. Whether prenatal exposure to BPA can have teratogenic effect on developing embryo needs to be studied.

• Proceedings of the Korean Society of Soil and Groundwater Environment Conference
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• 2005.04a
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• pp.90-93
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• 2005

경상남도 합천군과 창녕군 생활용수 지하수 관정 개발시 지하수 굴착공종으로부터 얻어진 구간별 지층자료와 대수층 수질 자료를 획득하여 이용하는 방법을 연구하였다. 지층정보를 파악하기 위하여 지하수공 굴착심도 10m마다 슬라임을 채취하였으며, 대수층 관통시에 지하수 시료를 구간별로 채수하여 전기전도도 및 수질시료를 분석하였다. 경도가 높은 지역의 경우, 음용수 수질기준치에 적합한 지하수를 개발하기 위해서 대수층별 전기전도도를 분석측정하여 경도를 간접적으로 파악함으로써 지하수 굴착심도 결정에 이용하였다. 그리고 대수층 구간별 불소 농도를 파악하였으며, 불소 농도가 높은 대수층 구간에서는 하부대수층 메움 등을 실시하였다. 대수층의 수질검사결과에서 기준치를 초과하는 우려 인자들(불소, 경도, 증발잔류물, 질산성 질소, 철, 알루미늄, 아연 등)에 대한 수질기준 초과 가능성을 대비한 양수시험 모니터링을 설계함으로써 지하수공의 수질 특성 파악이 가능하였다. 양수시험과정에서 탁도가 시간에 따라 기준치 이하까지 감소하는 일반적인 경향과 기준치 이상에서 더 이상 감소하지 않는 경향에 대한 원인을 분석할 수 있었다.

• Journal of Genetic Medicine
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• v.6 no.1
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• pp.95-99
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• 2009

Prenatal diagnosis of rare autosome mosaicism involvingchromosomes other than chromosome 13, 18, 21 or the sex chromosome is encountered prognostic dilemma during genetic counseling. We report four cases of level III uncommon mosaicism of trisomy 5, 16 and 20,diagnosed prenatally. In case 1 with mosaic trisomy 20, there was a higher mosaic ratio of trisomy 20 in the repeat amniocentesis (62.1%) than in the first (36.6%) with normal fetal ultrasound finding except for a relatively small aorta on a 3-vessel view of the fetal heart. Case 2 showed a low rate of mosaic trisomy 20 (5.25%) in cultured amniocytes but normal karyotype in the repeat amniocentesis, who delivered a normal healthy baby. Case 3 showed a 13.6% of trisomy 16 mosaicism in the 30 cells of cultured amniocytes. Sixty cells from a fetal blood sample at termination showed non-mosaic 46,XX normal karyotype, while skin fibroblasts had 22.5% trisomy 16 in 40 metaphases. The autopsy showed ventricular septal defect (VSD). Case 4 with low grade mosaicism (10.5%) of trisomy 5 resulted in elective termination, though the ultrasoumd showed growsly normal fetus. Although level III mosaicism is regarded as true mosaicism, it is difficult to predict the outcome of the fetus with rare mosaic autosome trisomy. Therefore mosaic autosome trisomy of fetus should be carefully interpreted with more various approaches including repeat sampling and targeted fetal ultrasound.

• Journal of Genetic Medicine
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• v.7 no.1
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• pp.59-66
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• 2010

Purpose: Quantitative fluorescent polymerase chain reaction (QF-PCR) allows for the rapid prenatal diagnosis of common aneuploidies. The main advantages of this assay are its low cost, speed, and automation, allowing for large-scale application. However, despite these advantages, it is not a routine method for prenatal aneuploidy screening in Korea. Our objective in the present study was to validate the performance of QF-PCR using short tandem repeat (STR) markers in a Korean population as a means for rapid prenatal diagnosis. Material and Methods: A QF-PCR assay using an Elucigene kit (Gen-Probe, Abingdon, UK), containing 20 STR markers located on chromosomes 13, 18, 21, X and Y, was performed on 847 amniotic fluid (AF) samples for prenatal aneuploidy screening referred for prenatal aneuploidy screening from 2007 to 2009. The results were then compared to those obtained using conventional cytogenetic analysis. To evaluate the informativity of STR markers, the heterozygosity index of each marker was determined in all the samples. Results: Three autosomes (13, 18, and 21) and X and Y chromosome aneuploidies were detected in 19 cases (2.2%, 19/847) after QF-PCR analysis of the 847 AF samples. Their results are identical to those of conventional cytogenetic analysis, with 100% positive predictive value. However, after cytogenetic analysis, 7 cases (0.8%, 7/847) were found to have 5 balanced and 2 unbalanced chromosomal abnormalities that were not detected by QF-PCR. The STR markers had a slightly low heterozygosity index (average: 0.76) compared to those reported in Caucasians (average: 0.80). Submicroscopic duplication of D13S634 marker, which might be a unique finding in Koreans, was detected in 1.4% (12/847) of the samples in the present study. Conclusion: A QF-PCR assay for prenatal aneuploidy screening was validated in our institution and proved to be efficient and reliable. However, we suggest that each laboratory must perform an independent validation test for each STR marker in order to develop interpretation guidelines of the results and must integrate QF-PCR into the routine cytogenetic laboratory workflow.