• 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.

• Korea journal of population studies
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• v.7 no.1
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• pp.78-123
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• 1984

This study is attempting to examine the possible determinants of the rise of the sex ratio at birth from 106 to 110 in past decade in Taiwan. The basic hypothesis for the sudden rise of the sex ratio at birth is due to a combination of prenatal sex determination and abortion. The reasoning for this hypothesis involves three types of considerations - motivation, norm, and access. The theory is evaluated by analyzing data from birth registration and a large and representative sampie of Taiwanese wives of childbearing age. The empirical data seem to support the theoretical preposition and the basic hypothesis that the rise of the sex ratio at birth in Taiwan is due to a combination of prenatal sex determination and abortion. There is striking evidence of son-preference in the rise of the sex ratio at birth in higher birth order. In 1990 the sex ratio was 119 for third births and 128 for fourth and fifth births compared to the expected 106. Also, the 1991 KAP data indicated that women who have only daughters but no any son are more likely to make prenatal sex screening and terminate their pregnancies in male live births at higher birth order. Obviously, genetic diagnosis through chorionic villus sampling which was available in recent years was misused for prenatal sex determination and sex selective abortion.

• Korea journal of population studies
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• v.17 no.2
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• pp.98-115
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• 1994

This study is attempting to examine the possible determinants of the rise of the sex ratio at birth from 106 to 110 in past decade in Taiwan. The basic hypothesis for the sudden rise of the sex ratio at birth is due to a combination of prenatal sex determination and abortion. The reasoning for this hypothesis involves three types of considerations - motivation, norm, and access. The theory is evaluated by analyzing data from birth registration and a large and representative sampie of Taiwanese wives of childbearing age. The empirical data seem to support the theoretical preposition and the basic hypothesis that the rise of the sex ratio at birth in Taiwan is due to a combination of prenatal sex determination and abortion. There is striking evidence of son-preference in the rise of the sex ratio at birth in higher birth order. In 1990 the sex ratio was 119 for third births and 128 for fourth and fifth births compared to the expected 106. Also, the 1991 KAP data indicated that women who have only daughters but no any son are more likely to make prenatal sex screening and terminate their pregnancies in male live births at higher birth order. Obviously, genetic diagnosis through chorionic villus sampling which was available in recent years was misused for prenatal sex determination and sex selective abortion.

• Journal of Genetic Medicine
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• v.12 no.2
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• pp.100-108
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• 2015

Purpose: Conventional methods for the prenatal detection of fetal RhD status involve invasive procedures such as fetal blood sampling and amniocentesis. The identification of cell-free fetal DNA (cffDNA) in maternal plasma creates the possibility of determining fetal RhD status by analyzing maternal plasma DNA. However, some technical problems still exist, especially the lack of a positive control marker for the presence of fetal DNA. Therefore, we assessed the feasibility and accuracy of fetal RHD genotyping incorporating the RASSF1A epigenetic fetal DNA marker from cffDNA in the maternal plasma of RhD-negative pregnant women in Korea. Materials and Methods: We analyzed maternal plasma from 41 pregnant women identified as RhD-negative by serological testing. Multiplex real-time PCR was performed by amplifying RHD exons 5 and 7 and the SRY gene, with RASSF1A being used as a gender-independent fetal epigenetic marker. The results were compared with those obtained by postnatal serological analysis of cord blood and gender identification. Results: Among the 41 fetuses, 37 were RhD-positive and 4 were RhD-negative according to the serological analysis of cord blood. There was 100% concordance between fetal RHD genotyping and serological cord blood results. Detection of the RASSF1A gene verified the presence of cffDNA, and the fetal SRY status was correctly detected in all 41 cases. Conclusion: Noninvasive fetal RHD genotyping with cffDNA incorporating RASSF1A is a feasible, reliable, and accurate method of determining fetal RhD status. It is an alternative to amniocentesis for the management of RhD-negative women and reduces the need for unnecessary RhIG prophylaxis.

• Journal of Genetic Medicine
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• v.17 no.2
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• pp.68-72
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• 2020

Purpose: Trisomy 21, the cause of Down syndrome (DS) with various medical problems, is the most common aneuploidy during the fetal period. For diagnosis, a non-invasive screening test using maternal blood, which cannot be confirmed and invasive confirmation test with a risk of miscarriage, may be performed. The trophoblast retrieval and isolation of the cervix (TRIC) have been proposed by some researchers as an alternative to overcome the limitations of current tests. We experimented using TRIC to identify the possibility of trisomy 21 for the first time in Asia. Materials and Methods: Three cases of DS were analyzed confirmed by invasive tests (chorionic villus sampling, amniocentesis). All samples of trophoblasts immediately were immersed in phosphate-buffered saline and processed with formalin for fixation. The trophoblasts were isolated using an anti-human leukocyte antigen-G antibody coupled to magnetic nanoparticles. β-human chorionic gonadotropin (hCG)-expressing cells were considered as trophoblast cells, and the detection rate calculated. DS was confirmed by fluorescence in situ hybridization (FISH). Results: The mean trophoblast detection rate using β-hCG was 78.1%, and the detection rate using FISH was 22.2%. In all cases, the trisomy of chromosome 21 was identified. Conclusion: Trophoblast can be obtained from the five weeks of gestation and has a high detection rate, so it is noted that it can replace the current prenatal genetic test. To realize the clinical application as a prenatal genetic test, we will need additional efforts to identify trisomy 21 as well as other chromosomal abnormalities in future large-scale studies.

• Journal of Genetic Medicine
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• v.4 no.1
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• pp.1-5
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• 2007

Unprecedented amount of genetic information being generated from the result of Human Genome Project (HGP) and advances in genetic research is already forcing changes in the paradigm of health and disease. The ultimate goal of genetic medicine is to use genetic information and technology to develop new ways of treatment or even prevention of the disease on an individual level for 'personalized medicine'. Genetics is play ing an increasingly important role in the diagnosis, monitoring and management of common multifactorial diseases in addition to rare single-gene disorders. While wide range of genetic testing have provided benefits to patients and family, uncertainties surrounding test interpretation, the current lack of available medical options for the diseases, and risks for discrimination and social stigmatization may remain to be resolved. However an increasing number of genetic tests are becoming commercially available, including direct to consumer genetic testing, yet public is often unaw are of their clinical and social implications. The personal nature of information generated by a genetic test, its power to affect major life decisions and family members, and its potential misuse raise important ethical considerations. Therefore appropriate genetic counseling is needed for patient to be informed with the benefits, limitations and risks of genetic tests, prior to informed consent for the tests. Physician also should be familiar with the legal and ethical issues involved in genetic testing to tell patients how w ell a particular genetic risk factor relates with likelihood of disease, and be able to provide appropriate genetic counseling. Genetic counseling become a mandatory requirement as global standard for many genetic testing such as prenatal diagnosis, presymtomatic DNA diagnostic tests and cancer susceptibility gene test for familial cancer syndrome. In oder to meet the challenge of genetic medicine of 21 century in korean health care system, professional education program and certification board for medical genetics specialist including non-MD genetic counselors should be addressed by medical society and regulatory policy of national health insurance reimbursement for genetic counseling to be in place to promote the implementation of clinical genetic service including genetic counseling for proper genetic testing.

• Journal of Genetic Medicine
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• v.8 no.1
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• pp.35-43
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• 2011

Purpose: We evaluated indications for chorionic villus sampling (CVS), the positive predictive value of CVS for fetal chromosomal abnormalities, and the fetal loss rate after CVS at CHA Medical Center. Materials and Methods: We reviewed the medical records of 511 cases of CVS performed between 67 and 120 days of gestation for prenatal cytogenetic diagnosis from April 2000 to April 2010. Fetal karyotypes were obtained by direct and indirect culture methods. Results: The most common indications for CVS were abnormal ultrasonic findings including increased nuchal translucency (294/635, 46.3%). The positive predictive value of abnormal karyotyping according to indication for CVS was highest in cases with abnormal parental karyotypes (14/21, 66.7%). Mosaicism revealed by CVS comprised 3.1% of the sample (16/509). Amniocentesis revealed two cases of true mosaicism and 11 cases of confined placental mosaicism. The fetal loss rate within 4 weeks of the procedure was 1.2% (6/511). Conclusion: If CVS is performed by an expert clinician, it is a feasible and reliable procedure for prenatal genetic diagnosis. When CVS indicates mosaicism, the finding should be confirmed by amniocentesis to distinguish true mosaicism from confined placental mosaicism.

• Journal of Korean Biological Nursing Science
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• v.7 no.1
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• pp.15-28
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• 2005

Purpose: With post-Genome Project, nurses must be able to incorporate genetic knowledge into their practice. The purpose of the present study aimed at providing the basic information needed to establish an education program for the training of nurses specialized in genetic counseling by comparing and analyzing the education contents in genetics of the various domestic and foreign nursing education institutions, identifying the problems of the existing programs, and investigating the current state of domestic genetic counseling programs. Result: The results of literature review were summarized as follows: Common curricula contents in Korea, Japan and U.S.A. were basic genetic knowledge, genetic counseling and prenatal diagnosis. However, In Korea the curriculum was not included legal, ethical, and social issues. In U.S.A. the course was focused on health promotion related to genetics. The expanded role of nurses is to provide the genetic counseling for clients and their families. So, this articles provided a sample of the new genetic counseling program for nurses which are included basic genetics, genetic counseling, nurse's role and knowledge, legal, ethical, social issues and practicum. Conclusion: this study suggests that this educational program is to brought up genetic specialized nurses in the master's course in the near future.

• Journal of Genetic Medicine
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• v.4 no.2
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• pp.190-195
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• 2007

Purpose : FISH is suggested as a useful tool for rapid detection of specific aneuploidy in uncultured amniocytes abnormality in interphase nucleus. In this study, we are going to share our experience using FISH in prenatal diagnosis and suggest the criteria for the diagnosis of aneuploidy by analyzing the results of FISH test. Methods : From January, 1999 to May, 2006, 8,613 tests in amniotic fluids obtained from 7,893 pregnant women were performed by using FISH for prenatal diagnosis of trisomy 21, trisomy 18 and trisomy 13. The indications of chromosome study were a screen positive for Down syndrome or Edwards syndrome in maternal serum marker screening test and an advanced maternal age (${\geq}35$ years old). Results : We have the 8,502 informative results from 8,613 tests (98.7%) which is submitted our criteria and the sensitivity is 98.2%. Conclusion : FISH on uncultured amniocytes is a rapid, clinically useful tool for prenatal diagnosis, with informative specimens being highly accurate. But the limitation of FISH is both expensive and labor-intensive.

• Journal of Genetic Medicine
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• v.4 no.1
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• pp.84-87
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• 2007

Spinocerebellar Ataxia Type 3 (SCA 3) is a rare autosomal dominative disorder in which one of the neurodegenerative disorders is caused by a CAG repeat expansion on chromosome 14q32.1. The age at onset of disease is related to the size of the expanded CAG repeat. We present the prenatal diagnosis of SCA3 in a woman whose husband was known to carry an unstable CAG repeat expansion in the MJD gene. The diagnosis was made using PCR with a fluorescent probe for an expanded MJD allele. The normal ranges of (CAG)n of SCA3 are 14~38 repeats. The husband, who had a family history of SCA 3, has an expanded allele of 69 CAG repeats with a normal allele of 27 repeats. His wife had two normal alleles with 26 and 32 CAG repeats. The fetus had two normal alleles with 26 and 27 CAG repeats; consequently, the baby w as healthy. We report a case of prenatal diagnosis of SCA3 using a fluorescent PCR which is rapid and accurate.