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Congenital Long QT Syndrome Type 8 Characterized by Fetal Onset of Bradycardia and 2:1 Atrioventricular Block

Joo D, Lee HD, Kim T, Ko H, Byun JH

An important, albeit rare, cause of fetal bradycardia is long QT syndrome (LQTS). Congenital LQTS is an ion channelopathy caused by mutations in genes encoding cardiac ion channel proteins. Fetal...
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Clinical Practice Guidelines for Prenatal Aneuploidy Screening and Diagnostic Testing from Korean Society of Maternal-Fetal Medicine:(1) Prenatal Aneuploidy Screening

Choe SA, Seol HJ, Kwon JY, Park CW, Kim M, Lee JY, Kim MA, Hwang HS, Na S, Shim JY, Kim K, Ryu HM

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...
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Prenatal ultrasonographic findings of esophageal atresia: potential diagnostic role of the stomach shape

Chang CS, Choi Y, Kim Sy, Yee C, Kim M, Sung JH, Lee S, Choi SJ, Oh Sy, Seo JM, Roh CR

Objective We investigated prenatal sonographic characteristics of esophageal atresia (EA) with advancing gestation. We focused on the degree of polyhydramnios and the stomach shape. Methods This study included 27 EA cases...
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Perinatal outcome of fetuses with congenital high airway obstruction syndrome: a single-center experience

Jeong SH, Lee MY, Kang OJ, Kim R, Chung JH, Won HS, Lee PR, Jung E, Lee BS, Choi WJ, Lee YS

Objective To report our experience with management of fetuses with congenital high airway obstruction syndrome (CHAOS). Methods We retrospectively reviewed the cases of fetuses who were prenatally diagnosed and postnatally confirmed...
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Prenatal Genetic Diagnosis of Congenital Nephrotic Syndrome

Seo JM, Kim SY, Park IY, Chae H, Kim M

Congenital nephrotic syndrome (CNS) of the Finnish type is an autosomal recessive disorder caused by mutations in the gene encoding nephrin (NPHS1). A 31-year-old primigravida woman from the Philippines was...
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Prenatal molecular diagnosis and carrier detection of Duchenne muscular dystrophy in Korea

Kang MJ, Seong MW, Cho SI, Park JS, Jun JK, Park SS

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...
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Experiences and efficacy of noninvasive prenatal test using maternal plasma in single center: 1,591 cases

Hong SY, Shim SH, Park HJ, Shim SS, Kim JY, Cho YK, Kim SH, Cha DH

Purpose: The objective of this study was to analyze the results of several noninvasive prenatal tests (NIPTs) from a single center and confirm their efficacy and reliability. In addition, we...
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Cyst Size in Fetuses with Biliary Cystic Malformation: An Exploration of the Etiology of Congenital Biliary Dilatation

Hattori K, Hamada Y, Sato M

Purpose: Our aim was the longitudinal assessment of cyst size in fetuses with biliary cystic malformation (BCM) to explore its etiology and the possibility of antenatal differentiation between biliary atresia...
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Prenatal diagnosis of transposition of the great arteries: an updated review

Bravo-valenzuela NJ, Peixoto AB, Araujo Júnior E

Simple transposition of the great arteries (TGA) is a cyanotic heart disease that accounts for 5% to 7% of all congenital heart diseases. It is commonly underdiagnosed in utero, with...
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Prenatal diagnosis of harlequin ichthyosis: a case report

Vijayakumari M, Reddy DK, Routhu M, Vuchuru M, Reddy NS

Harlequin ichthyosis (HI) is a rare and severe form of ichthyosis and is characterized by thickened, hard, armor-like plates of skin that cover the entire body. This disease is caused...
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Pseudo-Single Umbilical Artery by Spontaneous Intrauterine Umbilical Artery Thrombosis

Baik M, Im SY, Lee G

Umbilical artery thrombosis is rare event and few prenatally diagnosed cases have been reported. Antenatal diagnosis is very critical, as it is associated with high risk of perinatal motility and...
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The Management and Outcomes of Placental Adhesion

Kim SY, Kong SK, Lee YJ

Placenta adhesion, often involving placenta accreta, placenta increta, and placenta percreta, is a clinical term used to describe placenta that does not separate spontaneously and cannot be removed without causing...
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The Effect of Multidisciplinary Approach on the Birth Rate of Fetuses with Prenatally Diagnosed Congenital Heart Disease

Kim ST, Song J, Huh J, Kang IS, Yang JH, Jun TG, Oh SY, Choi SJ, Roh CR

BACKGROUND: This study aimed to determine the effect of a multidisciplinary approach on the birth rate of fetuses with prenatally diagnosed congenital heart diseases (CHDs). METHODS: Among the fetuses of 724...
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The Clinical Importance of the Prenatal Diagnosis of Fetal Scalp Hemangioma

Hwang HS, Koo JH, Kim SY, Kim RY, Wie JH, Ko HS, Park IY, Shin JC

Scalp hemangioma is a rare disease of the extracranial mass in the fetus. Here, we demonstrate a case of fetal scalp hemangioma as evaluated by prenatal ultrasonography and magnetic resonance...
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Diagnosis of Tuberous Sclerosis Complex and Epilepsy Outcomes in Children with Fetal Cardiac Rhabdomyoma: A Long Term Follow-up Study

Kim D, Kim HJ, You SJ, Yum MS, Ko TS

PURPOSE: Prenatal diagnosis of cardiac rhabdomyoma is suggestive of the presence of tuberous sclerosis complex (TSC), which is commonly associated with epilepsy. This study investigated the diagnostic rate of TSC,...
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Fetal Ultrasonography for Prenatal Detection of Tuberous Sclerosis Associated with Cardiac Rhabdomyoma

Kang MJ, Hong SY, Kwon BY, Jeong JE, Bae JY

Cardiac rhabdomyoma is common cardiac mass found during the fetal period. Cardiac rhabdomyoma and tuberous sclerosis have significant associations. Tuberous sclerosis in newborns can cause disability in nearly all organs....
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Three Cases of Nasal Chondromesenchymal Hamartoma Occurred in Sinonasal Tract

Choi Y, Jang YJ, Cho KJ, Chung YS

Nasal chondromesenchymal hamartoma (NCMH) is a rare benign tumor of the sinonasal tract. Most NCMH has a benign nature and can be cured by complete resection. Only a few NCMH...
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Change in rates of prenatal tests for chromosomal abnormality over a 12-year period in women of advanced maternal age

Kim SM, Kim HH, Han YJ, Choi JS, Ryu HM, Yang S, Kim MH

OBJECTIVE: In 2007, the American College of Obstetricians and Gynecologists (ACOG) recommended that all pregnant women be offered screening or diagnostic tests for chromosomal abnormalities regardless of their age. Noninvasive...
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Trends in Treatment Outcome and Critical Predictors of Mortality for Congenital Diaphragmatic Hernia in a Single Center

Hwang JH, Kim CY, Park HW, Namgoong J, Kim DY, Kim SC, Lee MY, Won HS, Shim JY, Lee PR, Kim A, Jung E, Lee BS, Kim KS, Kim EA

OBJECTIVE: To review trends in treatment outcomes, to determine risk factors for mortality, and to present a cut-off values of observed/expected lung to head ratio (O/E LHR) predicting mortality in...
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Role of fetal ultrasound in prenatally diagnosed de novo balanced translocations

Seong ES, Youn HJ, Park MK, Boo HY, Lee BY, Ryu HM, Han YJ

PURPOSE: This study aimed to investigate fetal ultrasonographic findings in cases of prenatally diagnosed de novo balanced translocations and the role of fetal ultrasound in prenatal genetic counseling. MATERIALS AND METHODS:...
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