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Performance Characteristics of the UniCel DxI 800 Immunoassay for the Maternal Serum Quadruple Test, Including Median Values for Each Week of Gestation, in Korean Women

Lee JH, Park Y, Suh B, Song SM, Kwon OH, Kim JH

BACKGROUND: Maternal serum prenatal quadruple screening includes testing for alpha-fetoprotein (AFP), human chorionic gonadotrophin (hCG), unconjugated estriol (uE3), and dimeric inhibin A (DIA). We evaluated quadruple screening using an automated...
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Prenatal Diagnosis of Bilateral Pulmonary Agenesis: a Case Report

Lee KA, Cho JY, Lee SM, Jun JK, Kang J, Seo JW

We report a case of bilateral pulmonary agenesis (BPA), which was suspected during a prenatal US examination and diagnosed by fetal magnetic resonance imaging (MRI). BPA is an extremely rare...
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Prenatal Diagnosis of Pallister-Killian Syndrome Associated with Pulmonary Stenosis and Right Ventricular Dilatation

Park IY, Shin JC, Kwon JY, Koo BK, Kim M, Lim J, Kim Y, Han K

Pallister-Killian syndrome (PKS) is a rare disorder characterized cytogenetically by tetrasomy 12p for isochromosome of the short arm of chromosome 12. PKS is diagnosed by prenatal genetic analysis through chorionic...
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Prenatal Diagnosis of Transient Abnormal Myelopoiesis in a Down Syndrome Fetus

Kim GJ, Lee ES

We report a case of transient abnormal myelopoiesis in a Down syndrome fetus diagnosed at 28(+3) weeks of gestation that rapidly progressed to intrauterine death 10 days later. Fetal hepatosplenomegaly...
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Prenatal MRI Findings of Fetuses with Congenital High Airway Obstruction Sequence

Guimaraes , Linam LE, Kline-Fath BM, Donnelly L, Calvo-Garcia MA, Rubio EI, Livingston JC, Hopkin RJ, Peach E, Lim FY, Crombleholme TM

OBJECTIVE: To define the MRI findings of congenital high airway obstruction sequence (CHAOS) in a series of fetuses. MATERIALS AND METHODS: Prenatal fetal MR images were reviewed in seven fetuses...
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Antenatal Diagnosis of Iniencephaly: Sonographic and MR Correlation: A Case Report

Pungavkar , Sainani NI, Karnik AS, Mohanty PH, Lawande MA, Patkar DP, Sinha S

Iniencephaly is an uncommon and fatal neural tube defect involving the occiput and inion, this occurs together with rachischisis of the cervical and thoracic spine, and retroflexion of the head....
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Prenatal Detection of a Congenital Pancreatic Cyst by Ultrasound

Choi SJ, Kang MC, Kim YH, Lim JS, Lim SC, Chang JH

We present a case of a fetal pancreatic cyst, a rare disease in fetal life, detected prenatally at 30 weeks' gestation by ultrasound. Routine ultrasound examination at 30 weeks' gestation...
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X-linked Opitz G/BBB Syndrome: Identification of a Novel Mutation and Prenatal Diagnosis in a Korean Family

Cho HJ, Shin MY, Ahn KM, Lee SI, Kim HJ, Ki CS, Kim JW

X-linked Opitz G/BBB syndrome (XLOS; MIM 300000) is a rare multiple congenital anomaly disorder that is characterized by facial anomalies, laryngeal/tracheal/esophageal defects and genitourinary abnormalities. XLOS is caused by mutations...
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Fetal Musculoskeletal Malformations with a Poor Outcome: Ultrasonographic, Pathologic, and Radiographic Findings

Lee SH, Cho JY, Song MJ, Min JY, Han BH, Lee YH, Cho BJ, Kim SH

The early and accurate antenatal diagnosis of fetal musculoskeletal malfomations with a poor outcome has important implications for the management of a pregnancy. Careful ultrasonographic examination of a fetus helps...
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Prenatal Diagnosis of Tetralogy of Fallot Associated with Chromosome 22q11 Deletion

Oh DC, Min JY, Lee MH, Kim YM, Park SY, Won HS, Kim IK, Lee YH, Yoo SJ, Ryu HM

Microdeletion of 22q11 is responsible for DiGeorge syndrome, velocardiofacial syndrome, congenital conotruncal heart defects, and related disorders. We report our experiences on prenatal diagnosis by fluorescence in situ hybridization (FISH)...
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Parental Decisions of Prenatally Detected Sex Chromosome Abnormality

Kim YJ, Park SY, Han JY, Kim MY, Yang JH, Choi KH, Kim YM, Kim JM, Ryu HM

Because of the widespread use of amniocentesis, the prenatal recognition of sex chromosome abnormality (SCA) has become increasingly common. Recent literature provided an insight into the understanding of the natural...
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Anesthesia for fetal procedures and surgery

Rosen MA

Many of the anesthetic considerations for fetal procedures and surgery are identical to those for nonobstetric surgery during pregnancy, including concern for maternal safety, avoidance of both teratogenic drugs and...
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A case of prenatal diagnosis of hemophilia A

Song KS, Lee A, Lee K, Lee BS

Classic hemophilia, (hemophilia A), is an X-linked hereditary bleeding disorder affecting half of the male offspring of female carriers. Prenatal diagnosis offers an option, namely to restrict abortions to...
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The effect of genetic counseling on performance of prenatal cytogenetic diagnosis

Kim SK, Kim IK, Kim CK, Yang YH, Park TK, Kim KY

Currently the number of pregnant women who have indications for, but do not receive, prenatal cytogenetic diagnosis is increasing. The purpose of this study was to review the prenatal cytogenetic...
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Prenatal diagnosis of a heterozygote of salt wasting congenital adrenal hyperplasia due to 21-hydroxylase deficiency by genetic linkage analysis

Oh BH, Park JK, Choi YM, Yang IM, Kim YS, Choi YK

For the purpose of prenatal diagnosis of CAH, genetic linkage analysis by HLA genotyping with lymphocytes and cultured amniotic cells were performed in a family at risk in which two...
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