In 2019, the Korean Society of Maternal-Fetal Medicine developed the first Korean clinical practice guidelines for prenatal aneuploidy screening and diagnostic testing. These guidelines were developed by adapting established clinical practice guidelines in other countries that were searched systematically, and the guidelines aim to assist in decision making of healthcare providers providing prenatal care and to be used as a source for education and communication with pregnant women in Korea. This article delineates clinical practice guidelines specifically for maternal serum screening for fetal aneuploidy and cell-free DNA (cfDNA) screening. A total of 19 key questions (12 for maternal serum and 7 for cfDNA screening) were defined. The main recommendations are: 1) Pregnant women should be informed of common fetal aneuploidy that can be detected, risks for chromosomal abnormality according to the maternal age, detection rate and false positive rate for common fetal aneuploidy with each screening test, limitations, as well as the benefits and risks of invasive diagnostic testing, 2) It is ideal to give counseling about prenatal aneuploidy screening and diagnostic testing at the first prenatal visit, and counseling is recommended to be given early in pregnancy, 3) All pregnant women should be informed about maternal serum screening regardless of their age, 4) cfDNA screening can be used for the screening of trisomy 21, 18, 13 and sex-chromosome aneuploidy. It is not recommended for the screening of microdeletion, 5) The optimal timing of cfDNA screening is 10 weeks of gestation and beyond, and 6) cfDNA screening is not recommended for women with multiple gestations. The guideline was reviewed and approved by the Korean Academy of Medical Sciences.

The Korean Society of Maternal Fetal Medicine proposed the first Korean guideline on prenatal aneuploidy screening and diagnostic testing, in April 2019. The clinical practice guideline (CPG) was developed for Korean women using an adaptation process based on good-quality practice guidelines, previously developed in other countries, on prenatal screening and invasive diagnostic testing for fetal chromosome abnormalities. We reviewed current guidelines and developed a Korean CPG on invasive diagnostic testing for fetal chromosome abnormalities according to the adaptation process. Recommendations for selected 11 key questions are: 1) Considering the increased risk of fetal loss in invasive prenatal diagnostic testing for fetal genetic disorders, it is not recommended for all pregnant women aged over 35 years. 2) Because early amniocentesis performed before 14 weeks of pregnancy increases the risk of fetal loss and malformation, chorionic villus sampling (CVS) is recommended for pregnant women who will undergo invasive prenatal diagnostic testing for fetal genetic disorders in the first trimester of pregnancy. However, CVS before 9 weeks of pregnancy also increases the risk of fetal loss and deformity. Thus, CVS is recommended after 9 weeks of pregnancy. 3) Amniocentesis is recommended to distinguish true fetal mosaicism from confined placental mosaicism. 4) Anti-immunoglobulin should be administered within 72 hours after the invasive diagnostic testing. 5) Since there is a high risk of vertical transmission, an invasive prenatal diagnostic testing is recommended according to the clinician's discretion with consideration of the condition of the pregnant woman. 6) The use of antibiotics is not recommended before or after an invasive diagnostic testing. 7) The chromosomal microarray test as an alternative to the conventional cytogenetic test is not recommended for all pregnant women who will undergo an invasive diagnostic testing. 8) Amniocentesis before 14 weeks of gestation is not recommended because it increases the risk of fetal loss and malformation. 9) CVS before 9 weeks of gestation is not recommended because it increases the risk of fetal loss and malformation. 10) Although the risk of fetal loss associated with invasive prenatal diagnostic testing (amniocentesis and CVS) may vary based on the proficiency of the operator, the risk of fetal loss due to invasive prenatal diagnostic testing is higher in twin pregnancies than in singleton pregnancies. 11) When a monochorionic twin is identified in early pregnancy and the growth and structure of both fetuses are consistent, an invasive prenatal diagnostic testing can be performed on one fetus alone. However, an invasive prenatal diagnostic testing is recommended for each fetus in cases of pregnancy conceived via in vitro fertilization, or in cases in which the growth of both fetuses differs, or in those in which at least one fetus has a structural abnormality. The guidelines were established and approved by the Korean Academy of Medical Sciences. This guideline is revised and presented every 5 years.

BACKGROUND: We investigated whether there is a difference in elastographic parameters between pregnancies with and without spontaneous preterm delivery (sPTD) in women with a short cervix (≤ 25 mm), and examined the ability of elastographic parameters to predict sPTD in those women. METHODS: E-CervixTM (WS80A; Samsung Medison, Seoul, Korea) elastography was used to examine the cervical strain. Elastographic parameters were compared between pregnancies with and without sPTD. Diagnostic performance of elastographic parameters to predict sPTD ≤ 37 weeks, both alone and in combination with other parameters, was compared with that of cervical length (CL) using area under receiver operating characteristic curve (AUC) analysis. RESULTS: A total of 130 women were included. Median gestational age (GA) at examination was 24.4 weeks (interquartile range, 21.4–28.9), and the prevalence of sPTD was 20.0% (26/130). Both the elastographic parameters and CL did not show statistical difference between those with and without sPTD. However, when only patients with CL ≥ 1.5 cm (n = 110) were included in the analysis, there was a significant difference between two groups in elasticity contrast index (ECI) within 0.5/1.0/1.5 cm from the cervical canal (P < 0.05) which is one of elastographic parameters generated by E-Cervix. When AUC analysis was performed in women with CL ≥ 1.5 cm, the combination of parameters (CL + pre-pregnancy body mass index + GA at exam + ECI within 0.5/1.0/1.5 cm) showed a significantly higher AUC than CL alone (P < 0.05). CONCLUSION: An addition of cervical elastography may improve the ability to predict sPTD in women with a short CL between 1.5 and 2.5 cm.
Area Under Curve ; Body Mass Index ; Cervix Uteri ; Elasticity ; Elasticity Imaging Techniques ; Female ; Gestational Age ; Humans ; Pregnancy ; Pregnant Women ; Prevalence ; Prospective Studies ; ROC Curve ; Seoul ; Ultrasonography

Spinal accessory neuropathy (SAN) is commonly caused by an iatrogenic procedure, and that caused by tumors is very rare. We present a case of a 49-year-old man suffering from weakness in the right trapezius and sternocleidomastoid muscle. An electrophysiology study confirmed proximal SAN. Fluorodeoxyglucose (FDG)-positron emission tomography (PET)/computed tomography (CT) revealed a diffuse large B-cell lymphoma compressing the right spinal accessory nerve. Ultrasonography showed definite atrophy on the trapezius and sternocleidomastoid muscles. In addition, post-chemotherapy FDG-PET/CT showed increased FDG uptake in the right upper trapezius, suggestive of denervation. This is the first report of SAN caused by direct compression by a diffuse large B-cell lymphoma, comprehensively assessed by an electrophysiology study, ultrasonography, and FDG-PET/CT.
Accessory Nerve ; Atrophy ; B-Lymphocytes ; Denervation ; Electrophysiology ; Humans ; Lymphoma ; Lymphoma, B-Cell ; Middle Aged ; Muscles ; Superficial Back Muscles ; Ultrasonography

PURPOSE: To evaluate the types of questions and the quality of Internet information regarding basic life support (BLS) in the general public. METHODS: We identified the questions and answers by entering the following keywords into the famous Korean search engine, Naver, in the year 2015: ‘ Basic life support’, ‘ chest compression’, ‘ rescue breath’, ‘ defibrillation’, ‘ cardiac arrest’, and ‘ airway obstruction’. A total of 269 cases were identified. We classified the questions into one of 17 subgroups. The accuracy of answers was analyzed based on the contents of the 2010 American Heart Association Cardiopulmonary Resuscitation Guidelines. The reliability of the answers was analyzed by the health on the net foundation code of conduct (authoritative, attribution, transparency). RESULTS: The most frequently asked question was about ‘ when do I perform BLS?’. The second is ‘ chest compression technique’, and third is ‘ how to do BLS’. In assessing the accuracy of answers, 196 answers (72.9%) were determined to be correct. However, the reliability of answers was relatively low, except author's transparency (80.7%); authoritative is 49.4% and attribution is only 16.4%. CONCLUSION: The most common question for the general public was when to perform BLS. Other questions were ‘ how to perform BLS’ or questions regarding chest compression techniques as well as issues regarding female patient and legal problem. This result can be used to educate the public on BLS. According to our results, the accuracy of the information regarding BLS is moderate, but reliability is not acceptable. The quality of BLS information on the Internet should be managed at an expert level.
American Heart Association ; Cardiopulmonary Resuscitation* ; Female ; Humans ; Internet ; Republic of Korea ; Search Engine ; Thorax

OBJECTIVE: To compare swallowing function between healthy subjects and patients with pharyngeal dysphagia using high resolution manometry (HRM) and to evaluate the usefulness of HRM for detecting pharyngeal dysphagia. METHODS: Seventy-five patients with dysphagia and 28 healthy subjects were included in this study. Diagnosis of dysphagia was confirmed by a videofluoroscopy. HRM was performed to measure pressure and timing information at the velopharynx (VP), tongue base (TB), and upper esophageal sphincter (UES). HRM parameters were compared between dysphagia and healthy groups. Optimal threshold values of significant HRM parameters for dysphagia were determined. RESULTS: VP maximal pressure, TB maximal pressure, UES relaxation duration, and UES resting pressure were lower in the dysphagia group than those in healthy group. UES minimal pressure was higher in dysphagia group than in the healthy group. Receiver operating characteristic (ROC) analyses were conducted to validate optimal threshold values for significant HRM parameters to identify patients with pharyngeal dysphagia. With maximal VP pressure at a threshold value of 144.0 mmHg, dysphagia was identified with 96.4% sensitivity and 74.7% specificity. With maximal TB pressure at a threshold value of 158.0 mmHg, dysphagia was identified with 96.4% sensitivity and 77.3% specificity. At a threshold value of 2.0 mmHg for UES minimal pressure, dysphagia was diagnosed at 74.7% sensitivity and 60.7% specificity. Lastly, UES relaxation duration of <0.58 seconds had 85.7% sensitivity and 65.3% specificity, and UES resting pressure of <75.0 mmHg had 89.3% sensitivity and 90.7% specificity for identifying dysphagia. CONCLUSION: We present evidence that HRM could be a useful evaluation tool for detecting pharyngeal dysphagia.
Deglutition Disorders* ; Deglutition* ; Diagnosis ; Esophageal Sphincter, Upper ; Healthy Volunteers* ; Humans ; Manometry* ; Pharynx ; Relaxation ; ROC Curve ; Sensitivity and Specificity ; Tongue

OBJECTIVE: To analyze practice patterns and checklists of second trimester ultrasonography, and to investigate management plans when soft markers are detected among Korean Society of Ultrasound in Obstetrics and Gynecology (KSUOG) members. METHODS: An internet-based self-administered questionnaire survey was designed. KSUOG members were invited to the survey. Checklists of the second trimester ultrasonography were also requested. In the questionnaire survey, general practice patterns of the second trimester ultrasonography and management schemes of soft markers were asked. In the checklists analysis, the number of items were counted and also compared with those recommended by other medical societies. RESULTS: A total of 101 members responded. Eighty-seven percent routinely recommended second trimester fetal anatomic surveillance. Most (91.1%) performed it between 20+0 and 23+6 weeks of gestation. Written informed consents were given by 15.8% of respondents. Nearly 60% recommended genetic counseling when multiple soft markers and/or advanced maternal age were found. Similar tendencies were found in the managements of individual soft markers. However, practice patterns were very diverse and sometimes conflicting. Forty-eight checklists were analyzed in context with the number and content of the items. The median item number was 46.5 (range, 17 to 109). Of 49 items of checklists recommended by International Society of Ultrasound in Obstetrics and Gynecology and/or American Congress of Obstetricians and Gynecologists, 14 items (28.6%) were found in less than 50% of the checklists analyzed in this study. CONCLUSION: Although general practice patterns were similar among KSUOG members, some of which were conflicting, and there is a need for standardization of the practice patterns and checklists of second trimester ultrasonography, which also have very wide range of spectrum.
Checklist* ; Surveys and Questionnaires ; Female ; General Practice ; Genetic Counseling ; Gynecology ; Humans ; Maternal Age ; Obstetrics ; Pregnancy ; Pregnancy Trimester, Second* ; Societies, Medical ; Ultrasonography ; Ultrasonography, Prenatal*

A first-trimester ultrasound scan has become an essential part of antenatal care. The Korean Society of Ultrasound in Obstetrics and Gynecology held a first-trimester ultrasound forum on April 5, 2014. The forum aimed to present an updated review of the literature on the topic of first-trimester ultrasound in specific lectures and to host a panel discussion on several important issues regarding first-trimester scans. The forum provided evidence- and consensus-based best practice patterns for obstetricians in Korea. Here, we report the review and checklists presented from the forum.
Checklist ; Female ; Gynecology* ; Humans ; Korea ; Lectures ; Nuchal Translucency Measurement ; Obstetrics* ; Practice Guidelines as Topic ; Pregnancy ; Pregnancy Trimester, First ; Ultrasonography*

Although conventional prenatal screening tests for Down syndrome have been developed over the past 20 years, the positive predictive value of these tests is around 5%. Through these tests, many pregnant women have taken invasive tests including chorionic villi sampling and amniocentesis for confirming Down syndrome. Invasive test carries the risk of fetal loss at a low but significant rate. There is a large amount of evidence that non-invasive prenatal test (NIPT) using cell free DNA in maternal serum is more sensitive and specific than conventional maternal serum and/or ultrasound screening. Therefore implementing NIPT will increase aneuploidy detection rate and concurrently decrease fetal loss rate accompanying invasive test. More than 1,000,000 NIPT were performed globally since 2011. The uptake rate of NIPT is expected to increase more rapidly in the future. Moreover, as a molecular genetic technique advances, NIPT can be used for not only common aneuploidy screening but single gene disorder, microdeletion, and whole fetal genome sequencing. In this review, I will focus on the NIPT for common aneuploidies such as trisomy 13, 18, and 21.
Amniocentesis ; Aneuploidy ; Chorionic Villi Sampling ; DNA* ; Down Syndrome ; Female ; Genome ; Humans ; Mass Screening ; Maternal Serum Screening Tests ; Molecular Biology ; Pregnancy ; Pregnant Women ; Prenatal Diagnosis ; Trisomy ; Ultrasonography

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.
DNA ; Down Syndrome ; High-Throughput Nucleotide Sequencing ; Mass Screening ; Plasma ; Polymorphism, Single Nucleotide ; Prenatal Diagnosis ; Ultrasonography