• Journal of Genetic Medicine
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• 제19권2호
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• pp.43-48
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• 2022

A prenatal chromosomal microarray (CMA) is generally recommended when a major anomaly is suspected on prenatal ultrasonography. As it can overcome the limitations of conventional karyotyping, it is expected that the number of prenatal CMA test requests will gradually increase. However, given the specificity of prenatal diagnosis, there are practical considerations compared to postnatal testing, such as the validation of prenatal specimens, maternal cell contamination, precautions when reporting variants of uncertain significance, and the need for comprehensive genetic counseling considering secondary findings. The purpose of this article is to provide necessary information to health care providers in consideration of these issues and to provide appropriate genetic counseling to patients.

• Genes and Genomics
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• 제40권12호
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• pp.1339-1349
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• 2018

Cerebral palsy (CP) is a non-progressive neurological disease, of which susceptibility is linked to genetic and environmental risk factors. More and more studies have shown that CP might be caused by multiple genetic factors, similar to other neurodevelopmental disorders. Due to the high genetic heterogeneity of CP, we focused on investigating related molecular pathways. Ten children with CP were collected for whole-exome sequencing by next-generation sequencing (NGS) technology. Customized processes were used to identify potential pathogenic pathways and variants. Three pathways (axon guidance, transmission across chemical synapses, protein-protein interactions at synapses) with twenty-three genes were identified to be highly correlated with CP. This study showed that the three pathways associated with CP might be the molecular mechanism of pathogenesis. These findings could provide useful clues for developing pathway-based pharmacotherapies. Further studies are required to confirm potential roles for these pathways in the pathogenesis of CP.

• 한국콘텐츠학회논문지
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• 제15권3호
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• pp.252-264
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• 2015

본 연구의 목적은 블로그에 나타난 임신 여성의 산전 기형아 검사 및 양수검사 관련 교육요구를 파악하기 위하여 총 7개의 국내 인터넷 블로그를 분석하였다. 본 연구는 두 단계로 이루어졌다. 1 단계는 2011년 10월 31일까지 6년간 7개 블로그 중 6개 블로그에 게시된 내용 중 산전 기형아 검사 389건을 통하여 연구의 분석틀을 마련하였다. 2 단계에서는 '맘스홀릭 베이비'에 게시된 산전 기형아 검사에 관한 질문 100건, 양수 검사에 관한 질문 200건과 댓글 1,665건을 2011년 12월 텍스트화하고 산전 기형아 검사와 양수검사의 건수, 검사 이유 및 검사와 관련된 문제점을 분석하였다. 그 결과, 임신부들은 산전 기형아 검사와 양수검사와 관련하여 검사의 용어, 목적 및 임신 주수에 따른 검사 지식이 부족하였고, 양수 검사를 권유 받은 임신부 중 56.5%가 불안과 두려움을 호소하였다. 양수검사에 관한 찬성과 반대 건수를 분석한 결과, 찬성 보다는 반대 건수가 더 많았고, 양수검사를 권유 받은 자 중 33.9%는 양수검사를 받지 않았다. 이상의 결과에서 보듯이 의료 기관 서비스 안에서 임신 여성과 가족들에게 임신 주수에 따른 산전 기형아 검사에 관한 교육 및 지지가 강화될 필요가 있다. 이를 위하여 산전 클리닉 외래의 상담 및 교육 서비스 기능을 강화하고, 유전 상담 전문가를 추가로 배치할 필요가 있으며 인터넷 보급률 증가와 현대 임신 여성이 선호하는 커뮤니케이션 방식을 고려하여 온라인 건강 정보 사이트 운영 및 콘텐츠 개발에 관심을 기울일 필요가 있다. 또한 본 연구결과는 기형아 검사 후 낙태 허용범위 기준에 대한 논의 시 기초자료로 활용될 수 있을 것이다.

• Journal of Genetic Medicine
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• 제17권1호
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• pp.27-33
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• 2020

Purpose: Duchenne muscular dystrophy (DMD) is the most common lethal muscular dystrophy and is caused by the genetic variants of DMD gene. Because DMD is X-linked recessive and shows familial aggregates, prenatal diagnosis is an important role in the management of DMD family. We present our experience of prenatal molecular diagnosis and carrier detection based on multiplex polymerase chain reaction (PCR), multiplex ligation-dependent probe amplification (MLPA), and linkage analysis. Materials and Methods: During study period, 34 cases of prenatal diagnosis and 21 cases of carrier detection were performed at the Seoul National University Hospital. Multiplex PCR and MLPA was used to detect the exon deletions or duplications. When the DMD pathogenic variant in the affected males is unknown and no DMD pathogenic variant is detected in atrisk females, linkage analysis was used. Results: The prenatal molecular diagnosis was offered to 34 fetuses. Twenty-five fetuses were male and 6 fetuses (24.0%) were affected. Remaining cases had no pathogenic mutation. We had 24 (80.0%) cases of known proband results; exon deletion mutation in 19 (79.2%) cases and duplication in 5 (20.8%) cases. Linkage analysis was performed in 4 cases in which 2 cases (50.0%) were found to be affected. In the carrier testing, among 21 cases including 15 cases of mother and 6 cases of female relative, 9 (42.9%) cases showed positive results and 12 (57.1%) cases showed negative results. Conclusion: Prenatal molecular diagnosis and carrier detection of DMD are effective and feasible. They are useful in genetic counseling for DMD families.

• Journal of Genetic Medicine
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• 제15권2호
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• pp.49-54
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• 2018

Nuchal translucency is an important indicator of an aneuploid fetus in prenatal diagnostics. Previously, only the presence of aneuploid could be confirmed by conventional karyotyping of fetuses with thick nuchal translucency. With the development of genetic diagnostic techniques, however, it has been reported that subtle variations not detectable by conventional karyo-typing might occur in cases of pathologic clinical syndrome in euploid fetuses. One of the newer, high-resolution genetic methods in the prenatal setting is chromosomal microarray. The possible association between nuchal translucency thickness with normal karyotype and submicroscopic chromosomal abnormalities detectable by microarray has been studied. How and when to apply microarray in clinical practice, however, is still debated. This article reviews the current studies on the clinical application of microarray in cases of increased nuchal translucency with normal karyotype for prenatal diagnosis.

• 근관절건강학회지
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• 제26권3호
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• pp.184-194
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• 2019

Purpose: There has been a considerable increase in the number of women giving birth at advanced age. The genetic screening of such women is highly desirable. Clinical nurses, however, are not adequately trained to assist such clients. This study aims at identifying the educational needs of nurses in order for them to provide better care and treatment for such women. Methods: 206 South Korean clinical nurses participated in this study. Study variables were measured by nurses' attitudes toward terminating pregnancy (ATP), knowledge of prenatal genetic screening and diagnosis (K-PGSD), and information needs for prenatal genetic screening and diagnosis (I-PGSD). The statistical analysis included T-test, analysis of variance and Pearson's Correlation Coefficient. Results: Mean scores were 34.57±5.73 for ATP, 16.44±3.04 for K-PGSD, and 78.81±10.95 for I-PGSD. The findings demonstrate that nurses have high information needs (I-PGSD) to take better care of women who have positive results from their amniocentesis tests. Conclusion: Information needs among clinical nurses are not currently being met. Education for nurses must include training in counseling to encourage patients' autonomous decision-making regarding their pregnancies.

• Journal of Genetic Medicine
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• 제18권2호
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• pp.117-120
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• 2021

We experienced a case of Xq deletion -- 46,X,del(X)(q22.3) -- detected by abnormal noninvasive prenatal screening, subsequently diagnosed by amniocentesis. Genetic counseling was a challenge because there are few reports of prenatal diagnosis of Xq deletion. In each female cell, one X chromosome is inactivated at random early in development, and there may be a preferential inactivation of the abnormal X chromosome. But some proportions of genes escape inactivation. The most common manifestation in women with Xq deletion is primary or secondary ovarian failure. Critical regions for ovarian function may be located at the long arm of the X chromosome. But, the onset and the severity of ovarian failure may vary with diverse, intricate factors. We anticipate that noninvasive prenatal screening can identify the broader range of chromosomal or genetic abnormalities with the advances in technology and analytic methods. We report our case with a brief review of the literature.

• Journal of Genetic Medicine
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• 제10권2호
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• pp.104-108
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• 2013

Purpose: This study was designed to confirm whether the paracentric inversions of fetuses and parents may be harmless. Materials and methods: We report 10 cases (0.14%) with paracentric inversions among 7,181 prenatal cases observed during prenatal diagnosis performed at Cheil General Hospital between January 2009 and June 2013. We used cytogenetic GTL- and RBG-banding techniques. Results: Of the 10 cases, nine cases were transmitted from each of the parents, and one case was de novo. Nine cases were phenotypically normal up to one month of age after birth. One case was lost to follow-up. We present prenatal diagnosis and follow-up examination of the fetuses with paracentric inversion. Conclusion: Based on our cases, most paracentric inversions are considered to be harmless. The precise identification of paracentric inversions might be clinically important and helpful for genetic counseling.

• Journal of Genetic Medicine
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• 제4권2호
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• pp.186-189
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• 2007

현재까지 보고 된 유전질환을 포함한 희귀질환은 6000종이 넘으며, 이 중 2007년 12월 현재, 1,500종(임상검사 목적 1,211종과 연구 목적 289)의 유전자 검사가 가능하다. 외국의 경우, 원인 유전자가 밝혀지고 진단이 가능한 모든 유전질환에 대해 착상 전 및 산전 유전자검사가 가능한데 반해, 국내에서는 2005년 제정된 생명윤리 및 안전에 관한 법률 제25조 2항에 의해 착상전 및 산전 유전자검사가 가능한 유전 질환은 63종으로 제한되어 있다. 이 보고에서는, 63종으로 제한된 검사항목에 포함되어 있지 않아 산전 진단을 할 수 없게 된 최근의 증례를 검토하고 문제점과 대안에 대해 논의하였다. X-성염색체 연관 열성질환인 MNK의 보인자로 확진된 L씨(여 38세)는 2명의 자녀를 출산하였는데, 그중 1명은 MNK에 이환된 남아로 출생 후 사망하였다. L씨는 2003년에 산전 유전자검사를 실시하여 정상의 남아를 출산하였다. 현재 임신 중인 L씨는 MNK에 이환된 남아를 또다시 출산할 가능성이 50%로 산전 유전자 검사가 필요하지만, 2005년에 제정된 생명윤리 및 안전에 관한 법률에 의해 산전 유전자검사가 법적으로 불가능하였다. 이 증례는 유전질환 검사항목을 63종으로 제한한 현행법의 문제점과 질환 형평성의 문제점을 실질적으로 보여주고 있다. 질환 명에 상관없이 유전질환의 가족력이 있는 가족에게는 산전 유전자검사에 대한 자기결정의 기회가 제공되어야 할 것이며, 만일, 현행법의 개정이 현실적으로 불가능하다면, MNK처럼 3년 내에 사망에 이르는 등 질병의 정도가 심하며, 효과적인 치료 방법이 없는 질환에 대해서는 산모나 가족이 원하는 경우 전문의의 전문적인 판단에 근거하여 예외가 인정되어야 한다고 사료된다.

• 한국간호교육학회지
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• 제19권4호
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• pp.675-683
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• 2013

Purpose: Nineteen articles were analyzed to gather opinions and nursing implications about NIPT recently launched. Methods: Nineteen articles were selected from EBSCO (eBook business collection), Google Scholar, and two Korean academic d-bases with key words 'prenatal screening testing', 'prenatal genetic diagnostic testing', NIPT or 'cell free DNA (cfDNA)'. Authors developed a framework for analyzing the 19 articles including opinions and suggestions for future implications. Results: Eleven articles written by the first author affiliated with medicine or genetics, viewed NIPT as promising because of safety, accuracy, early detectability and cost effectiveness. Articles written by journalists or authors affiliated with history and ethics were concerned with the possible risk of ELSI (ethical, legal, social issues), erratic interpretation of test results, and lack of genetic counseling service. Conclusion: With consideration of Korean clinical, and legal circumstances, not only pregnant women and families but also health professionals must prepare for clinical NIPT implications including updating prenatal genetic testing, counseling services, protecting ELSI and amulticultural team approach.