• Genes and Genomics
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• v.40 no.12
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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.

• The Journal of the Korea Contents Association
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• v.15 no.3
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• pp.252-264
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• 2015

The purpose of this study was to identify pregnant women's needs for information on prenatal genetic diagnosis and screening. This study is consisted of two phases. In the first phase in December 2011, six blogs featuring questions and answers on prenatal genetic diagnosis and screening were selected from four major search engines in Korea by using the keywords "prenatal genetic diagnosis," "prenatal genetic screening", and "amniocentesis." An analyzing framework was constructed on the basis of 389 posts on six blogs between November 2006 and October 2011. In the second phase, the contents of the "MomsHolicbaby" blog posted from November 2010 to October 2011 were reviewed. Then, pregnant women's questions on prenatal genetic diagnosis and screening (100 questions) and amniocentesis (200 questions with 1,665 answers) were analyzed using descriptive statistics. Among posters who had ever been recommended to undergo amniocentesis, 56.5% described feelings of anxiety, 25.5% did not know the purpose of the test, and 33.9% refused to undergo the test. Among 295 posters answering questions about amniocentesis, 61.4% disagreed with undergoing the test. The results show that there is a need for healthcare professionals to provide more educational and emotional support to pregnant women considering prenatal genetic diagnosis and screening. Providing online health information can be integrated into prenatal genetic education for pregnant women as well as nurses. In addition, prenatal women's preferences about undergoing amniocentesis should be reflected in the current legal discussion on criteria for termination of pregnancy.

• Journal of Genetic Medicine
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• v.18 no.2
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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 muscle and joint health
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• v.26 no.3
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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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• v.12 no.2
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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.

• Journal of Genetic Medicine
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• v.12 no.2
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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.

• Archives of Plastic Surgery
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• v.34 no.2
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• pp.181-185
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• 2007

Purpose: Cleft lip and/or palate is the most common congenital facial anomaly whose incidence is about 1 in 500~1000 live births. As this anomaly may be associated with the serious chromosomal anomalies or the multiple organ abnormalities resulting in the fetal loss or perinatal maternal morbidity and mortality, careful prenatal counseling with early and accurate detection is important. Although conventional prenatal ultrasound(US) examination in midterm pregnancy has been applied for screening of cleft lip, there are definite limitations in the diagnosis of accompanying cleft palate or alveolar cleft. We applied high-resolution 3D US along the serial axial, coronal and sagittal plane so that we could diagnose the cleft palate and/or alveolar cleft in fetuses with cleft lip. Methods: From May 2005 to September 2005, 20 fetuses with cleft lip were examined with prenatal 3D US. Average maternal age was 28.8 years old(24-35 years old), and average gestational age was 24.8 weeks(17.6 to 34.2 weeks). Consecutive axial, coronal and sagittal multislice view were obtained via prenatal 3D US examination and diagnosis of cleft palate and/or alveolar cleft in cleft lip fetuses was followed. Results: With noninvasive and safe prenatal 3D US examination, 17 of 20 cleft lip fetuses were demonstrated to have cleft palate and/or alveolar cleft. Prenatal counseling according to the result was made. Conclusion: Existing prenatal US examination is suitable for screening the cleft lip fetuses but has limitation in identifying the related existence of cleft palate and/ or alveolar cleft. Authors verify the presence of cleft palate and/or alveolar cleft acquiring the successive multislice axial, coronal, and sagittal view with prenatal 3D US examination. Therefore, prenatal 3D US examination could be regarded as a noninvasive and secure screening modality in fetuses with cleft lip for confirming whether cleft palate and/or alveolar cleft is accompanied.

• Journal of Genetic Medicine
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• v.15 no.2
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• pp.72-78
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• 2018

Purpose: Physicians' attitudes may have a strong influence on women's decision regarding prenatal screening options. The aim of this study is to assess the physicians' attitudes toward prenatal screening for fetal aneuploidy including non-invasive prenatal testing (NIPT) in South Korea. Materials and Methods: Questionnaires were distributed and collected at several obstetrics-gynecological conferences and meetings. The questionnaire included 31 multiple choice and 5 fill-in-the-blank questions. Seven questions requested physicians' demographic information, 17 questions requested information about the NIPT with cell-free fetal DNA, and 12 questions requested information about general prenatal screening practices. Results: Of the 203 obstetricians that completed the survey. In contrast with professional guidelines recommending the universal offering of aneuploidy screening, only 53.7% answered that prenatal aneuploidy testing (screening and/or invasive diagnostic testing) should be offered to all pregnant women. Physicians tended to have positive attitudes toward the clinical application of NIPT as both primary and secondary screening methods for patients at high-risk for fetal trisomy. However, for patients at average-risk for fetal trisomy, physicians tended to have positive attitudes only as a secondary screening method. Physicians with more knowledge about NIPT were found to tend to inform their patients that the detection rate of NIPT is higher. Conclusion: This is the first study to investigate expert opinion on prenatal screening in South Korea. Education of physicians is essential to ensure responsible patient counseling, informed consent, and appropriate management after NIPT.

• The Journal of Korean Academic Society of Nursing Education
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• v.19 no.4
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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.

• Maxillofacial Plastic and Reconstructive Surgery
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• v.37
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• pp.24.1-24.5
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• 2015

Ultrasonographic examination is widely used for screening of abnormal findings on prenatal screening. Cleft lip with or without cleft palate of the fetus can also be screened by using ultrasonography. Presence of abnormal findings of the fetal lip or palate can be detected by the imaging professionals. However, such findings may not be familiar to oral and maxillofacial surgeons. Oral and maxillofacial surgeons can use ultrasonographic imaging of fetal cleft lip with or without cleft palate to provide information regarding treatment protocols and outcomes to the parent. Therefore, surgeons should also be able to identify the abnormal details from the images, in order to setup proper treatment planning after the birth of the fetus. We report two cases of cleft lip with or without cleft palate that the official readings of prenatal ultrasonography were inconsistent with the actual facial structure identified after birth. Also, critical and practical points in fetal ultrasonographic diagnosis are to be discussed.