- A case of prenatal diagnosis of hemophilia A
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Song KS, Lee A, Lee K, Lee BS
- KMID: 1421909
- J Korean Med Sci.
- 1992 Jun;7(2):170-172.
- doi: 10.3346/jkms.1992.7.2.170
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
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Kim SK, Kim IK, Kim CK, Yang YH, Park TK, Kim KY
- KMID: 1118125
- Yonsei Med J.
- 1989 Mar;30(1):16-22.
- doi: 10.3349/ymj.1989.30.1.16
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 Detection of a Congenital Pancreatic Cyst by Ultrasound
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Choi SJ, Kang MC, Kim YH, Lim JS, Lim SC, Chang JH
- KMID: 1713258
- J Korean Med Sci.
- 2007 Feb;22(1):156-158.
- doi: 10.3346/jkms.2007.22.1.156
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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- Prenatal Diagnosis of Tetralogy of Fallot Associated with Chromosome 22q11 Deletion
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Oh DC, Min JY, Lee MH, Kim YM, Park SY, Won HS, Kim IK, Lee YH, Yoo SJ, Ryu HM
- KMID: 2157607
- J Korean Med Sci.
- 2002 Feb;17(1):125-128.
- doi: 10.3346/jkms.2002.17.1.125
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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- Prenatal Diagnosis of Bilateral Pulmonary Agenesis: a Case Report
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Lee KA, Cho JY, Lee SM, Jun JK, Kang J, Seo JW
- KMID: 1787022
- Korean J Radiol.
- 2010 Feb;11(1):119-122.
- doi: 10.3348/kjr.2010.11.1.119
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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- Fetal Musculoskeletal Malformations with a Poor Outcome: Ultrasonographic, Pathologic, and Radiographic Findings
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Lee SH, Cho JY, Song MJ, Min JY, Han BH, Lee YH, Cho BJ, Kim SH
- KMID: 754070
- Korean J Radiol.
- 2002 Jun;3(2):113-124.
- doi: 10.3348/kjr.2002.3.2.113
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 Transient Abnormal Myelopoiesis in a Down Syndrome Fetus
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Kim GJ, Lee ES
- KMID: 1088731
- Korean J Radiol.
- 2009 Apr;10(2):190-193.
- doi: 10.3348/kjr.2009.10.2.190
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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- X-linked Opitz G/BBB Syndrome: Identification of a Novel Mutation and Prenatal Diagnosis in a Korean Family
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Cho HJ, Shin MY, Ahn KM, Lee SI, Kim HJ, Ki CS, Kim JW
- KMID: 1781893
- J Korean Med Sci.
- 2006 Oct;21(5):790-793.
- doi: 10.3346/jkms.2006.21.5.790
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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- Parental Decisions of Prenatally Detected Sex Chromosome Abnormality
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Kim YJ, Park SY, Han JY, Kim MY, Yang JH, Choi KH, Kim YM, Kim JM, Ryu HM
- KMID: 2157594
- J Korean Med Sci.
- 2002 Feb;17(1):53-57.
- doi: 10.3346/jkms.2002.17.1.53
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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- Antenatal Diagnosis of Iniencephaly: Sonographic and MR Correlation: A Case Report
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Pungavkar , Sainani NI, Karnik AS, Mohanty PH, Lawande MA, Patkar DP, Sinha S
- KMID: 1110734
- Korean J Radiol.
- 2007 Aug;8(4):351-355.
- doi: 10.3348/kjr.2007.8.4.351
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 Diagnosis of Pallister-Killian Syndrome Associated with Pulmonary Stenosis and Right Ventricular Dilatation
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Park IY, Shin JC, Kwon JY, Koo BK, Kim M, Lim J, Kim Y, Han K
- KMID: 1096932
- Korean J Lab Med.
- 2009 Aug;29(4):366-370.
- doi: 10.3343/kjlm.2009.29.4.366
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 a heterozygote of salt wasting congenital adrenal hyperplasia due to 21-hydroxylase deficiency by genetic linkage analysis
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Oh BH, Park JK, Choi YM, Yang IM, Kim YS, Choi YK
- KMID: 1421288
- J Korean Med Sci.
- 1988 Jun;3(2):73-77.
- doi: 10.3346/jkms.1988.3.2.73
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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- 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
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Lee JH, Park Y, Suh B, Song SM, Kwon OH, Kim JH
- KMID: 1096797
- Korean J Lab Med.
- 2010 Apr;30(2):126-132.
- doi: 10.3343/kjlm.2010.30.2.126
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 MRI Findings of Fetuses with Congenital High Airway Obstruction Sequence
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Guimaraes , Linam LE, Kline-Fath BM, Donnelly L, Calvo-Garcia MA, Rubio EI, Livingston JC, Hopkin RJ, Peach E, Lim FY, Crombleholme TM
- KMID: 1088723
- Korean J Radiol.
- 2009 Apr;10(2):129-134.
- doi: 10.3348/kjr.2009.10.2.129
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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- Anesthesia for fetal procedures and surgery
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Rosen MA
- KMID: 720681
- Yonsei Med J.
- 2001 Dec;42(6):669-680.
- doi: 10.3349/ymj.2001.42.6.669
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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