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The role of antibiotic prophylaxis in mild to moderate isolated hydronephrosis detected in antenatal screening

Rianthavorn P, Phithaklimnuwong S

PURPOSE: To determine whether continuous antibiotic prophylaxis (CAP) could prevent urinary tract infection (UTI) in mild to moderate antenatal isolated hydronephrosis (IH), characterized by hydronephrosis without ureter and bladder abnormalities,...
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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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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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Korean physicians' attitudes toward the prenatal screening for fetal aneuploidy and implementation of non-invasive prenatal testing with cell-free fetal DNA

Kim SH, Kim KW, Han YJ, Lee SM, Lee MY, Shim JY, Cho GJ, Lee JH, Oh SY, Kwon HS, Cha DH, Ryu HM

PURPOSE: Physicians' attitudes may have a strong influence on women's decision regarding prenatal screening options. The aim of this study is to assess the physicians' attitudes toward prenatal screening for...
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Prenatal diagnosis of isolated coronary arteriovenous fistula

Chae U, Lee MY, Kim H, Won HS, Kim KS, Goo HW, Ko JK, Park JJ

Coronary arteriovenous fistula (CAVF) is a rare condition defined as an anomalous termination of the coronary arteries. The etiology of CAVF is either congenital or acquired, and iatrogenic CAVF is...
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Prenatal diagnosis of interchromosomal insertion of Y chromosome heterochromatin in a family

Lee BY, Park JY, Lee YW, Oh AR, Lee SY, Park SY, Ryu HM, Lee SW

Interchromosomal insertion of Y chromosome heterochromatin in an autosome was identified in a fetus and a family. A fetal karyotype was analyzed as 46,XX,dup(7)(?q22q21.1) in a referred amniocentesis at 16...
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Prenatal diagnosis of aberrant right subclavian artery in an unselected population

Song MJ, Han BH, Kim YH, Yoon SY, Lee YM, Jeon HS, Park BK

PURPOSE: The purpose of this study was to determine the frequency of aberrant right subclavian artery (ARSA) among unselected fetuses and to evaluate its association with chromosomal abnormalities and other...
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Prenatal diagnosis of the isodicentric chromosome 22 associated with cat eye syndrome by multiplex ligation-dependent probe amplification

Park SH, Shim SH, Jung YW, Shim SH, Chin MU, Park JE, Bae SM, Lyu SW, Cha DH

Cat eye syndrome (CES) is a very rare chromosomal syndrome characterized by various malformations such as anal atresia, preauricular malformation, coloboma of the iris, and congenial heart and renal defects....
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Prenatal diagnosis of 4p deletion syndrome: A case series report

Kwak DW, Ahn HK

The 4p deletion syndrome, also known as Wolf-Hirschhorn syndrome, is a well-known genetic disorder caused by a partial deletion of the short arm of chromosome 4. The great variability in...
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Prenatal diagnosis of 5p deletion syndrome: A case series report

Han YJ, Kwak DW

5p deletion syndrome, also known as Cri-du-Chat syndrome, is a chromosomal abnormality caused by a deletion in the short arm of chromosome 5. Clinical features of 5p deletion syndrome are...
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Prenatal diagnosis of an unbalanced translocation between chromosome Y and chromosome 15 in a female fetus

Lee D, Park H, Kwak S, Lee S, Go S, Park S, Jo S, Kim K, Lee S, Hwang D

We report the prenatal diagnosis of an unbalanced translocation between chromosome Y and chromosome 15 in a female fetus. Cytogenetic analysis of parental chromosomes revealed that the mother had a...
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Prenatal diagnosis of spontaneous twin anemia-polycythemia sequence and postnatal examination of placental vascular anastomoses

Bae JY, Oh JJ, Hong SY

Twin anemia-polycythemia sequence (TAPS) is characterized by a wide discrepancy of hemoglobin between two monochorionic fetuses without sign of twin oligo-polyhydramnios sequence. A primiparous woman with monochorionic diamniotic twin transferred...
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Quantitative fluorescent polymerase chain reaction for rapid prenatal diagnosis of fetal aneuploidies in chorionic villus sampling in a single institution

Shin YJ, Chung JH, Kim DJ, Ryu HM, Kim MY, Han JY, Choi JS

OBJECTIVE: To validate quantitative fluorescent polymerase chain reaction (QF-PCR) via chorionic villus sampling (CVS) for the diagnosis of fetal aneuploidies. METHODS: We retrospectively reviewed the medical records of consecutive pregnant women...
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Prenatal diagnosis of fetal adrenal hemorrhage and endocrinologic evaluation

Shin SI, Yoo JG, Park IY, Cheon JY

We present a case of a fetal adrenal hemorrhage, a rare disease in fetal life, detected prenatally at 36 weeks' gestation by ultrasound. Routine ultrasound examination at 36 weeks' gestation...
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Prenatal diagnosis of hypophosphatasia congenita using ultrasonography

Guguloth A, Aswani Y, Anandpara

Congenital hypophosphatasia is a rare fatal skeletal dysplasia. Antenatal determinants of Epub ahead of print lethality include small thoracic circumference with pulmonary hypoplasia and severe micromelia. These features were present...
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Prenatal Diagnosis of Fetal Goiter in a Euthyroid Mother

Bae JY, Joo LH, Jung JE, Hong SY

Congenital fetal goiter is a very rare pathology, is sometimes difficult to diagnose when there is no maternal history or the goiter size is moderate. We report a case of...
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Split hand/foot malformation with long-bone deficiency and BHLHA9 duplication: A prenatal diagnosis report

Cho IA, Park JK, Baek JC, Ha AN, Kang MY, Lee JI, Park JE, Shin JK, Choi WJ, Lee SA, Lee JH, Paik WY

Distal limb deformities are congenital malformations with phenotypic variability and high genetic heterogeneity. Split hand/foot malformation, also known as ectrodactyly, is a congenital limb malformation characterized by a defect of...
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Shift of paradigm in prenatal diagnosis

Hwang DY

No abstract available.
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Prenatal diagnosis of congenital mesoblastic nephroma

Do AY, Kim JS, Choi SJ, Oh SY, Roh CR, Kim JH

Congenital mesoblastic nephroma is a rare renal tumor that is diagnosed during pregnancy and is associated with polyhydramnios, prematurity, and neonatal hypertension. Differential diagnoses include Wilms tumor, adrenal neuroblastoma, and...
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Prenatal diagnosis of epignathus with multiple malformations in one fetus of a twin pregnancy using three-dimensional ultrasonography and magnetic resonance imaging

Moon NR, Min JY, Kim YH, Choi SK, Shin JC, Park IY

Epignathus is an extremely rare type of congenital teratoma arising in the oral cavity. Although it is a benign tumor, it is associated with high mortality and morbidity rates because...
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