• Journal of Genetic Medicine
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• v.12 no.2
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• pp.118-122
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• 2015

Noninvasive prenatal test (NIPT) is a novel screening method for the diagnosis of fetal chromosomal aneuploidies. NIPT is based on technology that detects cell-free fetal DNA in maternal plasma and analyzes it with massively parallel sequencing technology to determine whether the fetus is at risk of trisomy 21, trisomy 18, trisomy 13 or sex chromosome abnormalities (SCAs). NIPT has been reported to have sensitivity of 99% and a false positive rate of less than 1% for detecting trisomy 21 and trisomy 18. Although extension of the application of NIPT to other SCAs has been attempted, there are concerns in extending NIPT to SCAs because of maternal or fetal mosaicism, undetected maternal SCAs, and multiple pregnancies. Recently, we assessed a pregnancy with the rare Turner syndrome mosaicism 45, X/47, XXX, which was reported as 45, X with NIPT. We present the case here and briefly review the current literatures on NIPT in testing for fetal monosomy X. To the best of our knowledge, this is the first report of the 45, X/47, XXX mosaicism in Korea to be reported as 45, X by NIPT with whole genome sequencing. This case report will provide valuable information for counseling women who want to undergo NIPT.

• Clinical and Experimental Reproductive Medicine
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• v.40 no.4
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• pp.163-168
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• 2013

Objective: Preimplantation genetic diagnosis (PGD) is an assisted reproductive technique for couples carrying genetic risks. Charcot-Marie-Tooth (CMT) disease is the most common hereditary neuropathy, with a prevalence rate of 1/2,500. In this study, we report on our experience with PGD cycles performed for CMT types 1A and 2F. Methods: Before clinical PGD, we assessed the amplification rate and allele drop-out (ADO) rate of multiplex fluorescent polymerase chain reaction (PCR) followed by fragment analysis or sequencing using single lymphocytes. We performed six cycles of PGD for CMT1A and one cycle for CMT2F. Results: Two duplex and two triplex protocols were developed according to the available markers for each CMT1A couple. Depending on the PCR protocols, the amplification rates and ADO rates ranged from 90.0% to 98.3% and 0.0% to 11.1%, respectively. For CMT2F, the amplification rates and ADO rates were 93.3% and 4.8%, respectively. In case of CMT1A, 60 out of 63 embryos (95.2%) were diagnosed and 13 out of 21 unaffected embryos were transferred in five cycles. Two pregnancies were achieved and three babies were delivered without any complications. In the case of CMT2F, a total of eight embryos were analyzed and diagnosed. Seven embryos were diagnosed as unaffected and four embryos were transferred, resulting in a twin pregnancy. Two healthy babies were delivered. Conclusion: This is the first report of successful pregnancy and delivery after specific PGD for CMT disease in Korea. Our PGD procedure could provide healthy babies to couples with a high risk of transmitting genetic diseases.

• Journal of Korean Public Health Nursing
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• v.16 no.2
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• pp.315-324
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• 2002

Objectives : This study was conducted to explore the relating factors with the delivery of low-birth-weight infants in Pyungtaek city. Methods : A questionnaire survey was obtained from 51 mothers with low-birth-weight babies and 90 mothers with full-term normal babies from April to October in 2001. Questionnaire consisted of demographic characteristics, dietary habits including alcohol. drugging, and smoking, past and present disease, prenatal risk factors and prenatal check-up, and complications related to labor and delivery. Results : 1. In the low-birth-weight infants group, father's education level and mother's height were significantly lower, and proportion of old age mothers was significantly higher than those of the normal infant group. 2. Mothers with low-birth-weight infants experienced more premature rupture of membrane, placenta previa, ecclampsia, and twin pregnancy than mothers with normal infants. Gestational period of mothers with low-birth-weight infants was significantly shorter than that of mothers with normal infants. 3. No differences were found in eating habit, alcohol and drug ingestion, smoking, exposing to dangerous materials in two groups, but both groups were highly exposed to indirect smoking, although mothers rarely smoke. Conclusion : The findings of this study indicate that high risk group such as less educated, or older mothers need more prenatal health assessment and support from public health services. Addition to determine the risk factors related to the delivery of low-birth-weight infants, public health nurses pay more attention and develop efficient management system for vulnerable women and infants.

• Asian Pacific Journal of Cancer Prevention
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• v.15 no.15
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• pp.6307-6313
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• 2014

The aim of this study was to examine the knowledge and awareness of women in Kuwait with regard to risk factors, symptoms and diagnostic procedures of breast cancer. A total of 521 questionnaires were distributed among women in Kuwait. Results showed that 72% of respondents linked breast cancer factors to family history, while 69.7% scored abnormal breast enlargement as the most detectable symptom of the disease. Some 84% of participants had heard about self-examination, but knowledge about mammograms was limited to 48.6% and only 22.2% were familiar with diagnostic procedures. Some 22.9% of respondents identified the age over 40 years as the reasonable age to start mammogram screening. Risk factor awareness was independent on age groups (p>0.05), but both high education and family history increased the likelihood of postivie answers; the majority knew about a few factors such as aging, pregnancy after age 30, breast feeding for short time, menopause after age of 50, early puberty, and poor personal hygiene. In conclusion, 43.1% of participants had an overall good knowledge of breast cancer with regards to symptoms, risk factors and breast examination. Very highly significant associations (p<0.005) were evident for all groups except for respondents distributed by nationality (p=0.444). Early campaigns for screening the breast should be recommended to eliminate the confusion of wrong perceptions about malignant mammary disease.

• Journal of the Korea Academia-Industrial cooperation Society
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• v.22 no.6
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• pp.314-320
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• 2021

With the increasing age of motherhood in recent years, attributed to late marriages due to social or environmental factors, the Down's syndrome screening test using biochemical markers has become essential for pregnant women. The process of diagnosing Down's syndrome pregnancy in the high-risk group subjects involves chromosomal analysis, which is performed on samples obtained through invasive procedures such as chorionic biopsy or amniotic fluid. Thus, to reduce unnecessary invasive tests and lower the risk to mother and fetus, it is important to identify a screening test with low risk and high Down's syndrome detection rate. Recently, as the average age of mothers has increased, numerous inspection agencies have classified high-risk mothers as women over the age of 35 years. This study evaluated a total of 36,436 pregnant women aged between 17 to 46 years, and who requested prenatal screening at an inspection agency in Yongin in 2018. Test (13,690 people) Four tests were conducted by applying the time-resolved fluoroimmunoassay method using the direct sandwich and indirect sandwich technology, and the immunoassay method using the sandwich method. We aimed to confirm the difference in positivity rate with increasing age of the subjects. We believe that in future, data obtained from this study will be very useful for the prevention and treatment of Down's syndrome risk at varied inspection institutions, and for prospective mothers.

• Journal of Preventive Medicine and Public Health
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• v.55 no.6
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• pp.559-567
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• 2022

Objectives: This study aimed to assess the effect of complete coverage and content of available antenatal care (ANC) on the incidence of low birth weight (LBW) in 4 countries belonging to the Association of Southeast Asian Nations (ASEAN). Methods: Measures of complete coverage and content of ANC services included the frequency of ANC visits and the seven service components (blood pressure measurement, iron supplementation, tetanus toxoid immunization, explanations of pregnancy complications, urine sample test, blood sample test, and weight measurement). The complete coverage and content of ANC services were assessed as high if more than 4 ANC visits and all seven components were delivered. Multivariable logistic regression with complex survey designs was conducted using Demographic Health Survey data from the 4 ASEAN countries in question from 2014 to 2017. Results: The proportion of LBW infants was higher in the Philippines (13.8%) than in Indonesia (6.7%), Cambodia (6.7%), or Myanmar (7.5%). Poor ANC services were associated with a 1.30 times higher incidence of LBW than a high level of complete coverage and content of ANC services (adjusted odds ratio [aOR], 1.30; 95% confidence interval [CI], 1.11 to 1.52). In addition, the risk of LBW was higher in the Philippines than in other countries (aOR, 2.25; 95% CI, 2.01 to 2.51) after adjusting for mothers' demographic/socioeconomic factors, health behaviors, and other factors. Conclusions: In sum, complete coverage and content of ANC services were significantly associated with the incidence of LBW in Indonesia, Cambodia, and Myanmar. The Philippines did not show statistically significant results for this relationship, but had a higher risk of LBW with poor ANC.

• Childhood Kidney Diseases
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• v.4 no.1
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• pp.77-83
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• 2000

Purpose: Pregnancy in transplanted mother is considered as a high-risk pregnancy, and significant incidences of prematurity and low-birthweight(LBW) infants have been reported. The objective of this study is to examine the outcome of pregnancy in transplanted mothers and to evaluate the current growth status in their children. Patients and Methods: We retrospectively reviewed 54 pregnancies in 40 kidney recipients until June 1999. Outcomes of pregnancy were reviewed and assessment of the current growth status in children was performed. Results: 54 pregnancies in 40 recipients were identified; 22 ended in termination of pregnancy because of unwanted pregnancy or therapeutic purposes. And of the other 32, 29 livebirths resulted in 28 recipients. The mean age of conception was $30.3{\pm}3.8$ years, with a mean interval from transplantation to conception of $35.9{\pm}23.2$ months. All patients were maintained on immunosuppressive regimens. Incidence of drug-treated hypertension(HTN) prior to pregancy was $52\%$, HTN during pregnancy, $48\%$; preeclampsia, $41\%$; urinary tract infection, $48\%$; oligohydramnios $4\%$; and no rejection during pregnancy and up to 3month post delivery. Of the 29 liveborn infants, prematurity(<37wk) occurred in $52\%$, LBW(<2500g) in $62\%$, VLBW(<1500g) in $7\%$ and $48\%$ born intrauterine growth retardation(IUGR). Mean gestational age was $36.3{\pm}3.0\;wk$; a mean birthweight, $2.23{\pm}0.6\;kg$; a mean birth-height, $45.1{\pm}3.6cm$. Current mean height standard deviation score (height SDS) was $0.29{\pm}0.91$ and mean weight SDS was $0.62{\pm}1.34$. Only one child($4\%$) under 1 year of age was below 10 percentile in height. Most of children had no medical problems except for 4 children; cleft palate(1), tuberous sclerosis(1), essential hematuria(1), and one child expired due to sepsis. Conclusion: This study showed similar incidence of premaure birth($57\%$) and low birth weight infants($62\%$), but lower incidence of spontaneous abortion($5.6\%$) was observed and compared to other studies. Postnatal growth in majority of children($96\%$) achieved catch-up growth before 1 year. Present study supports a more optimistic view of pregnancy in renal transplant mother and normal growth in their children.

• Korean Journal of Health Education and Promotion
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• v.19 no.3
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• pp.51-72
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• 2002

This research was conducted to understand and analyze the health-related behaviors of middle school students and get fundamental research data essential to provide efficient student guidance and public health service at school. The interview using Youth Risk Behavior Surveillance System(YRBSS). Translation and modification for Korean students of the YRBS. The Korean version of YRBS(Youth Risk Behavior Surveillance System) that translation and modification for Korean students of the YRBS developed by the Centers for Disease Control and Prevention(CDC)was used to assessment to health-related behaviors of youth. The interviewees were 1040 enrolled students at middle school in Daegu metropolitan city. YRBSS monitors six categories of priority health behaviors among youth and young adults behaviors that contribute to unintentional and intentional injuries; tobacco use; alcohol and other drug use, sexual behaviors that contribute to unintended pregnancy and sexually transmitted diseases(STDs)(including human immunodeficiency virus infection); unhealthy dietary behaviors; and physical activity. The result shows that over 30% of students rarely or never used safety belt and almost students were rarely or never wore a bicycle helmet. During the 12 months preceding the survey, 21.9% female students had felt so sad or hopeless almost every day for $\geq$ 2weeks in a row that they stopped doing some usually activities 20.5% of male middle school students have ever tried cigarette smoking. 26.2% of male students and 27.2% do female students had had over one drinks of alcohol during their lifetime(lifetime alcohol use). 47% of male students had had over one drinks of alcohol on $\geq$ 1 of the 30 days preceding the survey(current alcohol use). Over one half of female student were thought they were overweight. These results suggest that some risk behaviors be very prevalent in a korean middle school students and priority health-risk behaviors, which contribute to the leading cause of mortality and morbidity among youth and adult, often are establish during middle school age, extend into adulthood, are interrelated. Among both children and adults, the leading causes of death are closely linked to these behaviors. Among adults, chronic diseases such as cardiovascular disease, cancer, and diabetes are the national leading killers. Practicing healthy behaviors, such as eating low-fat, high-fruit-and-vegetable diets, getting regular physical activity, and refraining from tobacco use, would prevent many premature deaths. Because health-related behaviors are usually established in childhood, positive choices need to be promoted before damaging behaviors are initiated or become ingrained.

• Korean Journal of Clinical Laboratory Science
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• v.37 no.1
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• pp.56-60
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• 2005

Human chorionic gonadotrophin (hCG) and unconjugated estriol (uE3) were added to AFP to make what is commonly known as the Triple test. The Triple test combines results from these three tests and has been a standard screening procedure for several years. Recent studies have demonstrated the usefulness of adding inhibin-A to Down's syndrome risk assessment. The Quad test adds dimeric Inhibin-A (DIA) to the three other markers and uses the same computer program to calculate risk factors. Testing was performed between 14 and 21 weeks of gestation. Sample size were 648 samples and period of study was from 1, July, 2004 to 30, September, 2004. Used analytical methods for AFP, hCG and uE3 were radioimmunoassay (RIA) and dimeric inhibin A was enzyme-linked immunosorbent assay (ELISA). Adding dimeric inhibin-A as a fourth marker to the standard triple test increases the detection rate from 62 % to 75 % with a false-positive rate of 5%. The DIA based Quad test has been shown to be the most effective second trimester screening test for Down's syndrome suitable for routine use. Increased DIA values are observed during normal pregnancy where a bimodal pattern response is seen. Values increase during the first trimester, decline after 14 weeks, and re-ascend between 17-25 weeks. Values for DIA may be additionally elevated during a Down's syndrome pregnancy. Dimeric inhibin A is a glycoprotein hormone made by the ovary and placenta. DIA levels are twice as high in Down's syndrome pregnancies. AFP, hCG, and uE3 levels vary with gestational age, and incorrect gestational dating will influence results. DIA levels do not vary substantially with gestational age, resulting in greater screening accuracy. Although the Quad test is an improvement over the Triple test, it is important to underscore the fact that a positive test on both should be done. Most women who initially screen positive will be found to be carrying normal babies when amniocentesis and definitive diagnostic chromosome analysis are done.

• Journal of Korean Public Health Nursing
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• v.2 no.2
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• pp.81-98
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• 1988

The purpose of this study was to fine out the general physical status of the neonates, and to identify the risk factors of the mothers and the neonates which were significantly related to the neonatal diseases during hospitalization. The data were obtained from clinical records of 1098 neonates born in Seoul Red cross Hospital between January 1st of 1984 and December 31th of 1986. The results of this study were summarized as follows: 1. General characteristics of the maternal group. 1) The average of maternal age was 26.6 years, the $91.7\%$ of the mothers de liveried at the age of 20-34 years old. 2) The distribution of the types of delivey were as follows : spontaneous delivery $39.9\%$, cesarean section $32.4\%$, vaccum extraction $25.7\%$, and breech delivery$2.0\%$. 3) The $40.3\%$ of the total de liveried mother had experienced abortion. 4) The $42.3\%$ of the total deliveried mother had one or more obstetric risk factors. 2. General characteristics of the neonatal group. 1) In the distribution of sex, male was $49.4\%$, female $50.6\%$. 2) The average of birth weights was 3,020gm. The distribution of birth weight were as follows; nomal weight $85.5\%$, low birth weight $12.7\%$ and high birth weight $2.5\%$. 3) The average of gestational age was 39.2 weeks. The distribution of gestational age were as follows; full term $77.4\%$, preterm $13.7\%$, and postterm $8.9\%$. 4) The average of Apgar Score was 9.0 at one minute and 9.6 at five minutes. 5) The $5.7\%$ of the neonates had one or more neonatal risk symptoms and signs at birth. 3. Apgar Score by the maternal and neonatal factors. In Apgar Score at one minute, normal group was higher than that of abnormal group. Apgar Score at five minutes was slightly higher than that at one minute. 4. The distribution of the maternal risk factors and the neonatal risk factors. 1) The total numbers of the maternal risk factors were 1376. The distribution of the maternal risk factors were as follows: obstetric factor $33.7\%$, abortion $32.2\%$, breech and cesarean section delivery $27.5\%$ and maternal age under 19 years and over 35 years $6.6\%$. 2) The total numbers of the neonatal risk factors were 517. The distribution of the neonatal risk factors were as follows: gestational age under 37 weeks and over 42 weeks $48.0\%$, birth weight under 2500gm and over 4000gm $12.2\%$, Apgar score under 4 at one munute $6.4\%$ and Apgar score at five munutes $2.7\%$. 3) The total numbers of the obstetric risk factors were 661. The types of the obstetric risk factors were meconium stained amniotic fluid $22.0\%$, premature rupture of membrane $17.5\%$. absence prenatal care $14.1\%$, unmarried pregnancy $10.3\%$, placenta problem $9.0\%$, toxemia $8.0\%$. 4) The total numbers of the neonatal risk symptoms and signs at birth were 83. The types of the neonatal risk symptoms and signs were respiratory distress $65.1\%$, neonatal apnea $14.4\%$, convulsion $13.3%$, meconium aspiration syndrome $4.8\%$, cyanosis $2.4\%$. 5. The relationship between the maternal risk factors and the neonatal risk factors. 1) Maternal age under 19 years or over 35 years was significantly related to Apgar Score under 4 at 5 minutes. 2) Breech delivery or cesarean section was significantly related to neonatal risk factor at birth such as birth weight, gestational age, Apgar Score at one minute and at five minutes. and neonatal risk symptoms and signs. 3) Obstetric risk factors were significantly related to the neonatal risk factors at birth. 4) Abortion was not related to the neonatal risk factors. 6. The relationship between neonatal diseases during hosptalization and the maternal or the neonatal risk factors. 1) The total numbers of neonatal diseases during hospitalization were 281. The distribution of neonatal diseases were as follows: birth trauma $38.1\%$, infectious disease $31.3\%$, hematologic disease $21.4\%$, respiratory disease $6.0\%$, neurologic disease $2.5\%$. cardiovascular disease $0.7\%$. 3) Most maternal risk factors except abortion were significantly related to neonatal diseases. 4) Most neonatal risk factors at birth were significantly related to neonatal diseases.