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1.
Journal of Preventive Medicine and Public Health ; : 205-211, 2023.
Article in English | WPRIM | ID: wpr-976994

ABSTRACT

Cancer management has become a major policy goal for the government of the Korea. As such, the government introduced the National Cancer Control Plan (NCCP) to reduce the individual and social burdens caused by cancer and to promote national health. During the past 25 years, 3 phases of the NCCP have been completed. During this time, the NCCP has changed significantly in all aspects of cancer control from prevention to survival. The targets for cancer control are increasing, and although some blind spots remain, new demands are emerging. The government initiated the fourth NCCP in March 2021, with the vision of “A Healthy Country with No Concerns about Cancer Anywhere at Any Time,” which aims to build and disseminate high-quality cancer data, reduce preventable cancer cases, and reduce gaps in cancer control. Its main strategies include (1) activation of cancer big data, (2) advancement of cancer prevention and screening, (3) improvement in cancer treatment and response, and (4) establishment of a foundation for balanced cancer control. The fourth NCCP has many positive expectations, similar to the last 3 plans; however, cross-domain support and participation are required to achieve positive results in cancer control. Notably, cancer remains the leading cause of death despite decades of management efforts and should continue to be managed carefully from a national perspective.

2.
Cancer Research and Treatment ; : 136-144, 2023.
Article in English | WPRIM | ID: wpr-966485

ABSTRACT

Purpose@#High breast cancer incidence and dense breast prevalence among women in forties are specific to Asian. This study examined the natural history of breast cancer among Korean women. @*Materials and Methods@#We applied a three-state Markov model (i.e., healthy, preclinical, and clinical state) to fit the natural history of breast cancer to data in the Korean National Cancer Screening Program. Breast cancer was ascertained by linkage to the Korean Central Cancer Registry. Disease-progression rates (i.e., transition rates between three states), mean sojourn time (MST) and mammographic sensitivity were estimated across 10-year age groups and levels of breast density determined by the Breast Imaging, Reporting and Data System. @*Results@#Overall prevalence of dense breast was 53.9%. Transition rate from healthy to preclinical state, indicating the preclinical incidence of breast cancer, was higher among women in forties (0.0019; 95% confidence interval [CI], 0.0017 to 0.0021) and fifties (0.0020; 95% CI, 0.0017 to 0.0022), than women in sixties (0.0014; 95% CI, 0.0012 to 0.0017). The MSTs, in which the tumor is asymptomatic but detectable by screening, were also fastest among younger age groups, estimated as 1.98 years (95% CI, 1.67 to 2.33), 2.49 years (95% CI, 1.92 to 3.22), and 3.07 years (95% CI, 2.11 to 4.46) for women in forties, fifties, and sixties, respectively. Having dense breasts increased the likelihood of the preclinical cancer risk (1.96 to 2.35 times) and decreased the duration of MST (1.53 to 2.02 times). @*Conclusion@#This study estimated Korean-specific natural history parameters of breast cancer that would be utilized for establishing optimal screening strategies in countries with higher dense breast prevalence.

3.
Journal of Korean Medical Science ; : e300-2023.
Article in English | WPRIM | ID: wpr-1001245

ABSTRACT

Background@#The purpose of this study was to evaluate the effect of vanishing twin (VT) on maternal serum marker concentrations and nuchal translucency (NT). @*Methods@#This is a secondary analysis of a multicenter prospective cohort study in 12 institutions. Serum concentrations of pregnancy-associated plasma protein-A in the first trimester and alpha-fetoprotein (AFP), total human chorionic gonadotrophin, unconjugated estriol, and inhibin A in the second trimester were measured, and NT was measured between 10 and 14 weeks of gestation. @*Results@#Among 6,793 pregnant women, 5,381 women were measured for serum markers in the first or second trimester, including 65 cases in the VT group and 5,316 cases in the normal singleton group. The cases in the VT group had a higher median multiple of the median value of AFP and inhibin A than the normal singleton group. The values of other serum markers and NT were not different between the two groups. After the permutation test with adjustment,AFP and inhibin A remained significant differences. The frequency of abnormally increased AFP was also higher in the VT group than in the normal singleton group. @*Conclusion@#VT can be considered as an adjustment factor for risk assessment in the secondtrimester serum screening test.

4.
Journal of Korean Medical Science ; : e360-2023.
Article in English | WPRIM | ID: wpr-1001180

ABSTRACT

Background@#Prostate-specific antigen-based routine screening is not recommended for the general population due to conflicting results with mortality reduction. We aimed to develop a web-based decision aid (DA) for informed decision making for prostate cancer screening. @*Methods@#Using the International Patient Decision Aid Standards (IPDAS) development process model, we developed our DA based on patient and clinician interviews and multidisciplinary expert discussions. The prototype consisted of predicting individual prostate cancer risk and informed decision-making, including knowledge, risk and benefit, cost, personal value, and decision making. We conducted a pilot study on 101 healthy men, evaluating the effectiveness of DA by measuring knowledge, attitude, and intention to screen before and after using the DA, as well as decisional conflict and usefulness after using the DA. @*Results@#Of the 101 participants (median age 60 [50–69] years), 84% had not undergone screening for prostate cancer in the past two years. After using the DA, knowledge on prostate cancer screening increased (mean score [of 10] before versus after: 6.85 ± 1.03 versus 7.57 ± 1.25; P < 0.001), and intention to not screen increased from 27.7% to 51.5% (P < 0.001), but attitude toward screening did not change (P = 0.564). After use of the DA, 79 participants reported no decisional conflict, and the usefulness score was high (mean score [of 100] 77.35 ± 7.69), with 85% of participants reporting that the DA helped with decision making. @*Conclusion@#Our web-based DA yielded increased knowledge, decreased screening intention, and high perceived usefulness. These findings indicate potential clinical relevance, especially among younger individuals.

5.
Journal of Korean Medical Science ; : e369-2023.
Article in English | WPRIM | ID: wpr-1001159

ABSTRACT

Frequent screening for thyroid cancer has been suggested as a probable explanation for the observed high risk of thyroid cancer in nuclear power plant (NPP) areas. We aimed to compare thyroid cancer screening rates of residents living near NPPs to those of the general population. This study utilized data from two national survey-based studies in 2016 and in 2014, respectively, for residents (n = 1,200) living in administrative districts within 5 km of NPP sites as the interest group, and the general population (n = 228,712) including distantliving residents (n = 19,100) in administrative districts within 30 km of NPP sites as reference groups. We observed an increase in screening rates in residents near NPPs, which may lead to a higher possibility of thyroid cancer detection. Therefore, further epidemiological studies investigating radiation-induced thyroid cancer risk among residents near NPPs should be carefully designed and interpreted considering possible detection bias.

6.
Cancer Research and Treatment ; : 910-917, 2023.
Article in English | WPRIM | ID: wpr-999777

ABSTRACT

Purpose@#This study aimed to evaluate the participation and follow-up test compliance rates and key performance indicators of the National Cancer Screening Program (NCSP) for colorectal cancer (CRC) from 2004 to 2017. @*Materials and Methods@#The overall outcomes of the NCSP for CRC were analyzed using the NCSP data collected from 2004 to 2017 and the Korean Central Cancer Registry for CRC from 2005 to 2017. We cross-sectionally analyzed the participation and follow-up test compliance rates and performance indicators for each year. The trend of participation rates as an annual percentage change was assessed, and other statistical analyses were performed. @*Results@#The screening participation rates increased from 7.3% in 2004 to 30.5% in 2017. Additionally, the screening rates were higher among individuals aged 60-69 years and National Health Insurance Service beneficiaries of low-income status. However, the adherence to the follow-up test decreased from 63% in 2004 to 32% in 2017. The follow-up tests using the double-contrast barium enema method decreased from 42.2% in 2004 to 0.3% in 2017. However, follow-up tests by colonoscopy increased from 21.0% in 2004 to 31.8% in 2017. Furthermore, the positivity, false-positive, and interval CRC rates decreased, whereas the specificity increased from 2004 to 2016, indicating improved performance of CRC. @*Conclusion@#The participation rates and performance of the NCSP for CRC have steadily improved, whereas adherence to follow-up tests has decreased. Additionally, there is a rapid growth in colonoscopy volume as a follow-up test. Continued efforts are required to improve the follow-up rates.

7.
Journal of Gynecologic Oncology ; : e39-2022.
Article in English | WPRIM | ID: wpr-967209

ABSTRACT

Objective@#This study aimed to analyze the trends in cervical cancer screening rates, including organized and opportunistic cancer screening rates, with the Papanicolaou test among Korean women. @*Methods@#Data were collected from a nationwide, cross-sectional, Korean National Cancer Screening Survey. To evaluate the cervical cancer screening rates, we used the screening approach of “cervical cancer screening rate with recommendation,” defined as the proportion of women who underwent the Papanicolaou test during the previous 2 years according to the Protocol of National Cancer Screening Program for Cervical Cancer in Korea. The joinpoint regression analysis, which describes the annual percent change (APC), was performed to detect significant changes in cervical cancer screening rates in women aged 30-74 years during 2005-2020. @*Results@#The cervical cancer screening rate was 56.0% in 2020. From 2005 to 2013, there was a rising trend in cervical cancer screening rates (APC=2.70%, 95% confidence interval [CI]:1.05 to 4.38), followed by a falling trend (APC=−2.67%, 95% CI:−4.3 to −1.01). The falling trend was significantly associated with age (≥40 years), education level (below the 15th grade), household income (below the middle-income level), and residence (all residential areas). @*Conclusion@#The recent falling trend was more common in women with a low socioeconomic status, which suggests that there is a socioeconomic gap in cervical cancer screening. Moreover, young women in their thirties had a low screening rate. Therefore, an active participation strategy for women vulnerable to cervical cancer is required.

8.
Journal of Korean Medical Science ; : e281-2021.
Article in English | WPRIM | ID: wpr-915466

ABSTRACT

Background@#People are generally considered overweight and obese if their body mass index (BMI) is above 25 kg/m 2 and 30.0 kg/m 2 , respectively. The World Health Organization proposed stricter criteria for Asians (≥ 23 kg/m2 : overweight, ≥ 25 kg/m2 : obese). We aimed to verify whether this criteria could predict adverse pregnancy outcomes in Korean women. @*Methods@#We included 7,547 Korean women from 12 institutions enrolled between June 2016 and October 2018. Women with no pre-pregnancy BMI data, not Korean, or lost to followup were excluded, leaving 6,331. The subjects were categorized into underweight, normal, overweight, class I obesity, and class II/III obesity based on a pre-pregnancy BMI of < 18.5, 18.5–22.9, 23.0–24.9, 25.0–29.9, and ≥ 30.0 kg/m2 , respectively. @*Results@#Overall, 13.4%, 63.0%, 11.8%, 9.1%, and 2.6% of women were underweight, normal, and overweight and had class I obesity and class II/III obesity, respectively. In the multivariable analysis adjusted for maternal age, a higher BMI significantly increased the risk of preeclampsia, gestational diabetes, preterm delivery caused by maternal-fetal indications, cesarean section, large for gestational age, and neonatal intensive care unit admission. @*Conclusion@#Adverse pregnancy outcomes started to increase in those with a pre-pregnancy BMI ≥ 23.0 kg/m2 after adjusting for maternal age. The modified obesity criteria could help predict adverse pregnancy outcomes in Koreans.

9.
Journal of Gynecologic Oncology ; : e81-2021.
Article in English | WPRIM | ID: wpr-915115

ABSTRACT

Objective@#We aimed to determine the differences in stage at diagnosis of cervical cancer among Korean women according to screening history. @*Methods@#Using linkage data from the Korean Central Cancer Registry and Korean National Cancer Screening Program (KNCSP), we included 18,388 women older than 30 years who were newly diagnosed with cervical cancer between 2013 and 2014 and examined their screening history. Between individuals, age group and socioeconomic status were matched to control for potential confounders. @*Results@#Significantly more cases of carcinoma in situ (CIS) were diagnosed in the ever-screened (71.77%) group than in the never-screened group (54.78%), while localized, regional, distant, and unknown stage were more frequent in the never-screened group. Women in the ever-screened group were most likely to be diagnosed with CIS than with invasive cervical cancer (adjusted odds ratio [aOR]=2.40; 95% confidence interval [CI]=2.18–2.65). The aOR for being diagnosed with CIS was highest among women who were screened 3 times or more (aOR=5.10; 95% CI=4.03–6.45). The ORs were highest for women screened within 24 months of diagnosis and tended to decrease with an increasing time since last screening (p-trend <0.01). @*Conclusion@#The KNCSP for cervical cancer was found to be positively associated with diagnosis of cervical cancers at earlier stages among women aged 30 years or older. The benefit of screening according to time was highest for women screened within 24 months of diagnosis.

10.
Journal of Gynecologic Oncology ; : e14-2021.
Article in English | WPRIM | ID: wpr-915035

ABSTRACT

Objective@#This study sought to examine changes in trends for quality indicators of the population-based Korean National Cancer Screening Program (KNCSP) for cervical cancer from years 2005 to 2013. @*Methods@#Our study data were derived from the KNCSP database. Cervical cancer diagnosis information was ascertained through linkage with the Korean National Cancer Registry and the KNCSP database. Performance measures for cervical cancer screening were estimated, including participation rate, positive rate, crude detection rate (CDR), interval cancer rate (ICR), positive predictive value (PPV), sensitivity, and specificity. Joinpoint analysis was applied to calculate annual percentage changes (APCs) in all indicators according to sociodemographic factors. @*Results@#A significant increasing trend was noted in participation rates (APC=13.4%; 95% confidence interval [CI]=10.5, 16.4). PPV and specificity increased from years 2005 to 2009 and remained stable till 2013. An increasing trend was discovered in CDRs for cervical cancer in situ (APC=3.9%; 95% CI=1.0, 6.9), whereas a decreasing trend was observed in ICRs for invasive cervical cancer (APC=−2.5%; 95% CI=−4.5, −0.5). Medical Aid recipients and women older than 70 years showed the lowest participation rates, but higher CDRs and ICRs, compared to other groups. In general, most of the quality indicators for cervical cancer screening improved from 2005 to 2009 and remained stable to 2013. @*Conclusion@#The KNCSP for cervical cancer in Korea has improved in terms of participation rate and accuracy of the screening test. These results may be attributed to the National Quality Improvement Program for KNCSP.

11.
Yonsei Medical Journal ; : 822-828, 2021.
Article in English | WPRIM | ID: wpr-904300

ABSTRACT

Purpose@#Funisitis, inflammation of the umbilical cord, is considered a strong risk factor for adverse neonatal outcomes; however, a clinical definition of funisitis has not been established. In this study, we aimed to determine the clinical significance of funisitis in twin neonates with spontaneous preterm birth. @*Materials and Methods@#The study included preterm twin neonates (<35 weeks) delivered after spontaneous preterm labor and/ or preterm premature rupture of amniotic membranes. The presence of funisitis was examined in the umbilical cord of each twin.We analyzed the risk of adverse neonatal outcomes according to the presence and absence of funisitis. Adverse neonatal outcomes were defined as the occurrence of neonatal mortality, significant morbidity, or both. @*Results@#Among 474 preterm neonates (237 twin pairs) included in this study, the frequency of funisitis was 6.5% (31 cases). Funisitis was significantly associated with neonatal mortality and adverse neonatal outcomes after adjustment for confounding variables [neonatal mortality, odds ratio (OR) 9.043, 95% confidence interval (CI) 2.620–31.204; adverse neonatal outcome, OR 2.445, 95% CI 1.017–5.875]. The concordance rate of funisitis between the twins was 10.7%, and in the absence of funisitis in one twin, the risk of neonatal mortality or adverse neonatal outcome was not influenced by the presence of funisitis in the other twin. @*Conclusion@#The presence of funisitis appears to be associated with an increased risk for adverse neonatal outcomes in twin neonates with spontaneous preterm birth.

12.
The Korean Journal of Internal Medicine ; : 721-730, 2021.
Article in English | WPRIM | ID: wpr-903714

ABSTRACT

Background/Aims@#Because ankylosing spondylitis (AS) mainly affects sacroiliac joints, special attention should be given to normal labour and pregnancy outcomes. Here, we investigate pregnancy outcomes in Korean women with AS. @*Methods@#Based on data from the Korean Health Insurance Review and Assessment Service claims database since July 2007, maternal complications were compared between women with AS and 1:10 matched general population by maternal age and year of delivery. Additionally, the 27 deliveries from 21 patients with AS who were seen at a tertiary hospital were retrospectively evaluated using 1:4 matched control group by maternal and gestational age. @*Results@#In the population-based cohort, there were 1,293 deliveries in 996 patients with AS. Higher maternal age and more comorbidities were reported than in the general population. However, compared to age and delivery-year matched population, only the rate of Caesarean section (CS) was higher in women with AS (odds ratio, 1.52; 95% confidence interval, 1.36 to 1.70). Incidence of other maternal complications was comparable between women with AS and control subjects. In the hospital-based cohort, the CS rate was higher in women with AS (44.4% vs. 20.4%, p = 0.002). Causes of CS was not different in both groups, including previous uterine surgery. There were no significant differences in foetal outcomes, including growth restriction, foetal malformations and Apgar score. @*Conclusions@#CS deliveries were performed more often in women with AS. However, other maternal complications and offspring complications were similar between women with AS and healthy control subjects.

13.
Cancer Research and Treatment ; : 330-338, 2021.
Article in English | WPRIM | ID: wpr-897436

ABSTRACT

Purpose@#The Korean National Cancer Screening Survey (KNCSS) is a nationwide annual cross-sectional survey conducted for the past 15 years. This study aimed to report trends in the overall screening rates of both organized and opportunistic cancer screening programs from 2004–2018. @*Materials and Methods@#KNCSS data were collected using a structured questionnaire. For five major cancers (i.e., stomach, liver, colorectal, breast, and cervical cancer), we evaluated both the lifetime screening rate and the screening rate with recommendations. The study population included men aged 40–74 years and women aged 20–74 years with no cancer histories. @*Results@#Screening rate with recommendations increased from 2004 annually by 4.4% and 1.5% until 2013 for stomach and liver cancers, respectively, by 4.0% until 2012 for breast cancer, and by 3.6% and 1.2% until 2014 for colorectal and cervical cancers, respectively, followed by nonsignificant trends thereafter. In 2018, screening rates with recommendations for these cancers were 72.8%, 26.2%, 63.1%, 58.4%, and 55.6%, respectively. @*Conclusion@#Screening rates for the five types of cancer demonstrated a marked increase between 2004 and 2018. However, many recent screening rates have been flattened with nonsignificant trends, and there are lower rates for cervical cancer screening among young age groups. Steady efforts are needed to achieve higher screening participation rates overall, especially for the cervical cancer screening of young women in their 20s.

14.
Yonsei Medical Journal ; : 822-828, 2021.
Article in English | WPRIM | ID: wpr-896596

ABSTRACT

Purpose@#Funisitis, inflammation of the umbilical cord, is considered a strong risk factor for adverse neonatal outcomes; however, a clinical definition of funisitis has not been established. In this study, we aimed to determine the clinical significance of funisitis in twin neonates with spontaneous preterm birth. @*Materials and Methods@#The study included preterm twin neonates (<35 weeks) delivered after spontaneous preterm labor and/ or preterm premature rupture of amniotic membranes. The presence of funisitis was examined in the umbilical cord of each twin.We analyzed the risk of adverse neonatal outcomes according to the presence and absence of funisitis. Adverse neonatal outcomes were defined as the occurrence of neonatal mortality, significant morbidity, or both. @*Results@#Among 474 preterm neonates (237 twin pairs) included in this study, the frequency of funisitis was 6.5% (31 cases). Funisitis was significantly associated with neonatal mortality and adverse neonatal outcomes after adjustment for confounding variables [neonatal mortality, odds ratio (OR) 9.043, 95% confidence interval (CI) 2.620–31.204; adverse neonatal outcome, OR 2.445, 95% CI 1.017–5.875]. The concordance rate of funisitis between the twins was 10.7%, and in the absence of funisitis in one twin, the risk of neonatal mortality or adverse neonatal outcome was not influenced by the presence of funisitis in the other twin. @*Conclusion@#The presence of funisitis appears to be associated with an increased risk for adverse neonatal outcomes in twin neonates with spontaneous preterm birth.

15.
Cancer Research and Treatment ; : 330-338, 2021.
Article in English | WPRIM | ID: wpr-889732

ABSTRACT

Purpose@#The Korean National Cancer Screening Survey (KNCSS) is a nationwide annual cross-sectional survey conducted for the past 15 years. This study aimed to report trends in the overall screening rates of both organized and opportunistic cancer screening programs from 2004–2018. @*Materials and Methods@#KNCSS data were collected using a structured questionnaire. For five major cancers (i.e., stomach, liver, colorectal, breast, and cervical cancer), we evaluated both the lifetime screening rate and the screening rate with recommendations. The study population included men aged 40–74 years and women aged 20–74 years with no cancer histories. @*Results@#Screening rate with recommendations increased from 2004 annually by 4.4% and 1.5% until 2013 for stomach and liver cancers, respectively, by 4.0% until 2012 for breast cancer, and by 3.6% and 1.2% until 2014 for colorectal and cervical cancers, respectively, followed by nonsignificant trends thereafter. In 2018, screening rates with recommendations for these cancers were 72.8%, 26.2%, 63.1%, 58.4%, and 55.6%, respectively. @*Conclusion@#Screening rates for the five types of cancer demonstrated a marked increase between 2004 and 2018. However, many recent screening rates have been flattened with nonsignificant trends, and there are lower rates for cervical cancer screening among young age groups. Steady efforts are needed to achieve higher screening participation rates overall, especially for the cervical cancer screening of young women in their 20s.

16.
Journal of the Korean Radiological Society ; : 2-11, 2021.
Article in English | WPRIM | ID: wpr-875140

ABSTRACT

More than 4 million women undergo breast cancer (BC) screening with mammography each year in Korea. Digital mammography (DM) was introduced in 2000, and it has been reported to have a higher diagnostic accuracy than screen-film mammography (SFM) or computed radiography (CR) in women with dense breasts. According to a study using data from the National Cancer Screening Program for BC, the diagnostic accuracy of DM was higher than those of SFM and CR, regardless of age, breast density, and screening round. Currently, despite high supply rate among OECD countries, the distribution of DM equipment is approximately 35% in Korea.For quick replacement with DM, it will be necessary to improve its fee for the National Health Insurance and support an educational program for radiologists. In addition, efforts should be made to increase the accessibility of DM.

17.
Journal of Korean Medical Science ; : e24-2021.
Article in English | WPRIM | ID: wpr-874775

ABSTRACT

Antiphospholipid syndrome (APS), which is characterized by the presence of antiphospholipid antibodies (aPL), is associated with increased risk of thrombosis and obstetric complications, including preterm delivery and recurrent pregnancy losses. APS shows diverse clinical manifestations and the risk of complications varies among clinical subtypes. Although these patients are usually treated with aspirin and anticoagulants, the optimal treatment in various clinical settings is unclear, as the risk of complications vary among clinical subtypes and the management strategy depends on whether the patient is pregnant or not. Also, there are unmet needs for the evidence-based, pregnancyrelated treatment of asymptomatic women positive for aPL. This review focuses on the management of positive aPL or APS in pregnant and postpartum women, and in women attempting to become pregnant. For asymptomatic aPL positive women, no treatment, low dose aspirin (LDA) or LDA plus anticoagulants can be considered during antepartum and postpartum. In obstetric APS patients, preconceptional LDA is recommended. LDA plus low molecular weight heparin is administered after confirmation of pregnancy. Vascular APS patients should take frequent pregnancy test and receive heparin instead of warfarin after confirmation of pregnancy. During pregnancy, heparin plus LDA is recommended. Warfarin can be restarted 4 to 6 hours after vaginal delivery and 6 to 12 hours after cesarean delivery.Most importantly, a tailored approach and patient-oriented treatment are mandatory.

18.
The Korean Journal of Internal Medicine ; : 721-730, 2021.
Article in English | WPRIM | ID: wpr-896010

ABSTRACT

Background/Aims@#Because ankylosing spondylitis (AS) mainly affects sacroiliac joints, special attention should be given to normal labour and pregnancy outcomes. Here, we investigate pregnancy outcomes in Korean women with AS. @*Methods@#Based on data from the Korean Health Insurance Review and Assessment Service claims database since July 2007, maternal complications were compared between women with AS and 1:10 matched general population by maternal age and year of delivery. Additionally, the 27 deliveries from 21 patients with AS who were seen at a tertiary hospital were retrospectively evaluated using 1:4 matched control group by maternal and gestational age. @*Results@#In the population-based cohort, there were 1,293 deliveries in 996 patients with AS. Higher maternal age and more comorbidities were reported than in the general population. However, compared to age and delivery-year matched population, only the rate of Caesarean section (CS) was higher in women with AS (odds ratio, 1.52; 95% confidence interval, 1.36 to 1.70). Incidence of other maternal complications was comparable between women with AS and control subjects. In the hospital-based cohort, the CS rate was higher in women with AS (44.4% vs. 20.4%, p = 0.002). Causes of CS was not different in both groups, including previous uterine surgery. There were no significant differences in foetal outcomes, including growth restriction, foetal malformations and Apgar score. @*Conclusions@#CS deliveries were performed more often in women with AS. However, other maternal complications and offspring complications were similar between women with AS and healthy control subjects.

19.
Journal of Genetic Medicine ; : 16-20, 2020.
Article | WPRIM | ID: wpr-835779

ABSTRACT

Purpose@#Duodenal atresia (DA) and atrioventricular septal defect (AVSD) are well known ultrasonographic findings associated with Down syndrome. The risk of Down syndrome in fetuses with these anomalies has been reported as 30% to 40%. However, on the basis of our clinical experience, the risk of Down syndrome of DA may be lower in Korean population. To clarify this issue, we compared the risk of Down syndrome between cases with DA and AVSD. @*Materials and Methods@#The study population consisted of neonates who were confirmed as DA or AVSD by postnatal diagnosis. Postnatal diagnosis was made by surgery, postnatal echocardiography, or autopsy. Medical record was reviewed retrospectively. @*Results@#A total of 213 neonates with DA or AVSD were included: 67 cases with DA and 146 cases with AVSD. The risk of Down syndrome was 4.5% (3/67) in DA vs. 29.5% (43/146) in AVSD. When confining analysis to those whose karyotyping were not performed during antenatal period, the risk of Down syndrome were 7.9% (3/38) in DA and 35.4% (35/99) in AVSD. @*Conclusion@#The risk of Down syndrome in cases with DA was much lower in Korean population than previously reported risk in the literature. The significance of some antenatal sonographic markers for Down syndrome may be different according to ethnicity.

20.
Journal of Genetic Medicine ; : 27-33, 2020.
Article | WPRIM | ID: wpr-835777

ABSTRACT

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.

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