• 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.

• 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.

• 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.

• 한국간호교육학회지
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• 제24권4호
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• pp.463-477
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• 2018

Purpose: This study identifies correlations among information needs and knowledge about prenatal genetic screening and diagnosis (I-PGSD & K-PGSD), and attitude toward terminating pregnancy (ATP) among pregnant women in South Korea. Methods: A descriptive survey was conducted from January 2013 to April 2014 in South Korea. 222 pregnant women responded to three questionnaires developed by the authors. The questionnaire for I-PGSD consisted of 19 questions; 18 questions for K-PGSD; and 10 questions for ATP. Results: Mean scores were $80.46{\pm}11.73$ for I-PGSD; $14.86{\pm}3.74$ for K-PGSD; and $33.71{\pm}6.13$ for ATP. The ATP score was positively correlated with the I-PGSD and K-PGSD scores, but statistically significant with only I-PGSD (p=.006). I-PGSD scores were higher than average on three genetic syndromes (Down, Patau, and Edwards syndrome), on management after the diagnosis of positive fetal aneuploidy, and on test result interpretation after the amniocentesis and level II fetal ultrasonogram. Conclusions: In light of current legal and moral controversy regarding terminating pregnancy and rapidly advancing prenatal genetic testing technology, more prenatal genetic education for nurses and nursing students who teach pregnant women is needed. In addition, more professional counseling services provided by trained nurses are also required.

• Journal of Genetic Medicine
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• 제12권2호
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• pp.72-78
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• 2015

Recently, noninvasive prenatal test (NIPT) has been adopted as a primary screening tool for fetal chromosomal aneuploidy. The principle of NIPT lies in isolating the fetal fraction of cell-free DNA in maternal plasma and analyzing it with bioinformatic tools to measure the amount of gene from the target chromosome, such as chromosomes 21, 18, and 13. NIPT will contribute to decreasing the need for unnecessary invasive procedures, including amniocentesis and chorionic villi sampling, for confirming fetal aneuploidy because of its higher positive predictive value than that of the conventional prenatal screening method. However, its greater cost than that of the current antenatal screening protocol may be an obstacle to the adoption of this innovative technique in clinical practice. Digital polymerase chain reaction (dPCR) is a novel approach for detecting and quantifying nucleic acid. dPCR provides real-time diagnostic advantages with higher sensitivity, accuracy, and absolute quantification than conventional quantitative PCR. Since the groundbreaking discovery that fetal cell-free nucleic acid exists in maternal plasma was reported, dPCR has been used for the quantification of fetal DNA and for screening for fetal aneuploidy. It has been suggested that dPCR will decrease the cost by targeting specific sequences in the target chromosome, and dPCR-based noninvasive testing will facilitate progress toward the implementation of a noninvasive approach for screening for trisomy 21, 18, and 13. In this review, we highlight the principle of dPCR and discuss its future implications in clinical practice.

• 대한유전성대사질환학회지
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• 제5권1호
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• pp.108-115
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• 2005

Inherited metabolic diseases (IMD) comprise a large class of genetic diseases involving disorders of metabolism. The majorities are due to defects of single genes that code for enzymes that facilitate conversion of various substances into others. Because of the multiplicity of conditions, many different diagnostic tests are used for screening of IMD. Molecular genetic diagnosis is the detection of pathogenic mutations in DNA and/or RNA samples and is becoming a much more common practice in medicine today. The purpose of molecular genetic testing in IMD includes diagnostic testing, pre-symptomatic testing, carrier screening, prenatal diagnosis, preimplantation testing, and population screening. However, because of the complexity, difficulty in interpreting the result, and the ethical considerations, an understanding of technical, conceptual, and practical aspects of molecular genetic diagnosis is mandatory.

• Journal of Genetic Medicine
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• 제12권2호
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• pp.66-71
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• 2015

Down syndrome screening with cell-free DNA (cfDNA) in the maternal plasma has recently received much attention in the prenatal diagnostic field. Indeed, a large amount of evidence has already accumulated to show that screening tests with cfDNA are more sensitive and specific than conventional maternal serum and/or ultrasound screening. Globally, more than 1,000,000 of these noninvasive prenatal tests (NIPTs) have been performed to date. There are several different methods for NIPTs that are currently commercially available, including shotgun massively parallel sequencing, targeted massively parallel sequencing, and single nucleotide polymorphism (SNP)-based methods. All of these methods have their own advantages and disadvantages. In this review, I will focus specifically on the SNP-based NIPT.

• Journal of Genetic Medicine
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• 제21권1호
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• pp.1-5
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• 2024

Despite advances in the diagnosis and management of rare diseases (RDs), there remains a tendency to overlook adult RD patients. In addition to the considerable number of adult-onset RDs, advances in the diagnosis and management of pediatric RDs have led to an increase in the survival of these patients into adulthood. Adult RDs exhibit distinct features from pediatric counterparts, necessitating careful consideration during medical assessments. Given the extended life expectancy of adult RD patients, precise diagnosis and management strategies can significantly enhance patient outcomes. This review aims to provide an in-depth exploration of the characteristics unique to adult RDs. Special emphasis will be placed on the importance of cascade screening and prenatal genetic testing in the context of adult RDs, highlighting the need for a comprehensive understanding of these aspects in clinical practice.