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Prenatal Diagnosis of Congenital Heart Diseases and Associations with Serum Biomarkers of Aneuploidy: A Multicenter Prospective Cohort Study

Wie JH, Han YJ, Kim SH, Kim MY, Cho HY, Lee MY, Chung JH, Lee SM, Oh Sy, Lee JH, Boo HY, Cho GJ, Kwon HS, Kim BJ, Park MH, Ryu HM, Ko HS

Purpose: We assessed prenatal detection rates of congenital heart disease (CHD) and associations between maternal serum biomarkers and non-chromosomal CHD in singleton pregnancies. Materials and Methods: This study was conducted as...
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Prenatal Detection of Fetal Cystinuria by Fetal Hyperechoic Colon in Ultrasonogra phy: A Case Report

Choi YS, Jeong , Bae JY, Jeong JE, Hong SY, Ko HJ

Cystinuria is an inherited disorder that causes urolithiasis owing to a defect in the reabsorption of cystine in the kidneys. A fetal hyperechoic colon revealed on ultrasound before 36 weeks...
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Differentiation of cystic biliary atresia and choledochal cysts using prenatal ultrasonography

Chen L, He F, Zeng K, Wang B, Li J, Zhao D, Yang Z, Ren W

Purpose: This study explored the performance of prenatal ultrasonography in the differential diagnosis of cystic biliary atresia (CBA) and choledochal cyst (CC). Methods: Fetuses diagnosed with hepatic hilar cyst in the...
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Prenatal detection of Xq deletion by abnormal noninvasive prenatal screening, subsequently diagnosed by amniocentesis: A case report

Kim BR, Kim R, Cho A, Kang HS, Park CM, Kim SY, Shim SS

We experienced a case of Xq deletion -- 46,X,del(X)(q22.3) -- detected by abnormal noninvasive prenatal screening, subsequently diagnosed by amniocentesis. Genetic counseling was a challenge because there are few reports...
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Prenatal Diagnosis of an Ascending Aortic Aneurysm Inherited from the Father: A Case Report of Loeys-Dietz Syndrome Type 1

Sim YK, Lee DH, Kim JK, Chae HS, Lee JH, Jeong YJ

Inherited aortic aneurysms are very rare during fetal life. If an aortic aneurysm is seen on prenatal ultrasound, the differential diagnosis of hereditable connective tissue disorders, such as Loeys-Dietz syndrome,...
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Sonographic evaluation of fetal scrotum, testes and epididymis

Soto , González JLM, Martínez MV, Pérez RL, Rivero IM, Fernández ML, Izquierdo OG, Cendán JPM

External male genitalia have rarely been evaluated on fetal ultrasound. Apart from visualization of the penis for fetal sex determination, there are no specific instructions or recommendations from scientific societies....
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The diagnosis of an imperforate anus in female fetuses

Kim HM, Cha HH, Kim JI, Seong WJ, Park SH, Kim MJ

Imperforate anus is an anomaly caused by a defect in the development of the hindgut during early pregnancy. It is a relatively common congenital malformation and is more common in...
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Prenatal Diagnosis of Ventricular Tachycar dia Initiated from Bradycardia

Kim R, Lee MY, Song LR, Choi SA, Chung JH, Won HS, Lee PR, Kim EAR, Baek JS

Fetal ventricular tachycardia (VT) is an extremely rare condition. Because sustained VT is highly associated with perinatal morbidity and mortality, prenatal management with antiarrhythmic drugs is crucial. A 33-year-old woman...
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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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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 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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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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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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