- The Usefulness of Fetal MRI for Prenatal Diagnosis
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Sohn YS, Kim MJ, Kwon JY, Kim YH, Park YW
- KMID: 2158174
- Yonsei Med J.
- 2007 Aug;48(4):671-677.
- doi: 10.3349/ymj.2007.48.4.671
PURPOSE: Fast MRI has provided detailed and reproducible fetal anatomy. This study was performed to evaluate the usefulness of fetal MRI for prenatal diagnosis. MATERIALS AND METHODS: Fifty-six fetuses with... -
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- Prenatal MRI Findings of Polycystic Kidney Disease Associated with Holoprosencephaly
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Koplay M, Onbas O, Alper F, Borekci B
- KMID: 1779459
- Korean J Radiol.
- 2009 Jun;10(3):307-309.
- doi: 10.3348/kjr.2009.10.3.307
Holoprosencephaly (HPE) and polycystic kidney disease (PKD) are genetically heterogeneous anomalies which can make up part of various syndromes or chromosomal anomalies. Due to the rapid lethality prognosis, early and... -
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- Prenatal Diagnosis of Congenital Lipoid Adrenal Hyperplasia (CLAH) by Molecular Genetic Testing in Korean Siblings
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Ko HS, Lee S, Chae H, Choi SK, Kim M, Park IY, Suh BK, Shin JC
- KMID: 1058829
- Yonsei Med J.
- 2011 Nov;52(6):1035-1038.
- doi: 10.3349/ymj.2011.52.6.1035
Congenital lipoid adrenal hyperplasia (CLAH) is caused by mutations to the steroidogenic acute regulatory protein (StAR) gene associated with the inability to synthesize all adrenal and gonadal steroids. Inadequate treatment... -
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- Rapid Prenatal Detection of Down and Edwards Syndromes by Fluorescent Polymerase Chain Reaction with Short Tandem Repeat Markers
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Yoon HR, Park YS, Kim YK
- KMID: 1728847
- Yonsei Med J.
- 2002 Oct;43(5):557-566.
- doi: 10.3349/ymj.2002.43.5.557
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- Prenatal Diagnosis of Fetal Seizure: A Case Report
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Jung E, Lee BY, Huh CY
- KMID: 1783082
- J Korean Med Sci.
- 2008 Oct;23(5):906-908.
- doi: 10.3346/jkms.2008.23.5.906
A 35-yr-old woman carrying a 17-week-old fetus presented with right hydronephrosis and a single umbilical artery. Karyotyping was normal and targeted ultrasonography showed an otherwise normal fetus. After 28 weeks... -
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- Rapid Prenatal Diagnosis of Down Syndrome Using Quantitative Fluorescent PCR in Uncultured Amniocytes
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Lee MH, Ryu HM, Kim DJ, Lee BY, Cho EH, Yang JH, Kim MY, Han JY, Park SY
- KMID: 1786809
- J Korean Med Sci.
- 2004 Jun;19(3):341-344.
- doi: 10.3346/jkms.2004.19.3.341
Rapid prenatal diagnosis of common chromosome aneuploidies have been successful through quantitative fluoresent PCR (QF-PCR) assays and small tandem repeat (STR) markers. The purpose of our study was to investigate... -
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- Rapid Prenatal Diagnosis of Trisomy 21 by Real-time Quantitative Polymerase Chain Reaction with Amplification of Small Tandem Repeats and S100B in Chromosome 21
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Yang YH, Nam MS, Yang ES
- KMID: 1734043
- Yonsei Med J.
- 2005 Apr;46(2):193-197.
- doi: 10.3349/ymj.2005.46.2.193
Trisomy 21 (Down syndrome) is the most common congenital anomaly, and it occurs in one out of 700-1000 births. Current techniques such as amniocentesis and chorionic villi sampling (CVS) require... -
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- Prenatal Diagnosis of Fetal Trisomy 21 from Maternal Peripheral Blood
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Yang YH, Kim SH, Yang ES, Kim SK, Kim IK, Park YW, Cho JS, Lee YH
- KMID: 1779463
- Yonsei Med J.
- 2003 Apr;44(2):181-186.
- doi: 10.3349/ymj.2003.44.2.181
This study was undertaken to establish a noninvasive prenatal genetic diagnostic method for trisomy 21 using the fetal nRBCs that is rarely present in maternal circulation. Peripheral venous blood samples... -
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- Prenatal Diagnosis of Congenital Diaphragmatic Hernia in a Fetus with 46,XY/46,X,-Y,+der(Y)t(Y;1)(q12;q12) Mosaicism: A Case Report
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Ahn HY, Shin JC, Kim YH, Ko HS, Park IY, Kim SJ, Rha JG, Kim SP
- KMID: 1781780
- J Korean Med Sci.
- 2005 Oct;20(5):895-898.
- doi: 10.3346/jkms.2005.20.5.895
Congenital diaphragmatic hernia (CDH) is often associated with major anomalies and chromosomal abnormalities. Chromosomal abnormalities are usually detected in 9.5% to 34% of fetuses with CDH prenatally diagnosed and the... -
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- A Case of Pseudoisodicentric Chromosome 18q Detected at Prenatal Diagnosis
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Cho SY, Lim G, Kim SY, Kim MJ, Lee KA, Choi JR, Lee HJ, Suh JT, Park TS, Jung E
- KMID: 1781652
- Korean J Lab Med.
- 2010 Aug;30(4):440-443.
- doi: 10.3343/kjlm.2010.30.4.440
Although trisomy 18 (Edwards' syndrome) or the terminal deletion syndromes of 18p and 18q have been occasionally detected, pseudoisodicentric chromosome 18 is a very rare constitutional chromosomal abnormality. We describe... -
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- Amniotic Fluid Interphase Fluorescence in situ Hybridization (FISH) for Detection of Aneuploidy;Experiences in 130 Prenatal Cases
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Lim HJ, Kim YJ, Yang JH, Kim EJ, Choi JS, Jung SH, Ahn HK, Han JY, Kim MY, Choi KH, Kim JM, Kim YM, Park SY, Ryu HM
- KMID: 1127246
- J Korean Med Sci.
- 2002 Oct;17(5):589-592.
- doi: 10.3346/jkms.2002.17.5.589
The major aneuploidies diagnosed prenatally involve the autosomes 13, 18, 21, and sex chromosomes X and Y. Fluorescence in situ hybridization (FISH) allows rapid analysis of chromosome copy number... -
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- Korean-Specific Parameter Models for Calculating the Risk of Down Syndrome in the Second Trimester of Pregnancy
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Kwon JY, Park IY, Park YG, Lee Y, Lee G, Shin JC
- KMID: 1786019
- J Korean Med Sci.
- 2011 Dec;26(12):1619-1624.
- doi: 10.3346/jkms.2011.26.12.1619
The purpose of the current study was to propose a Korean-specific parameter set for calculating the risk of Down syndrome in the second trimester of pregnancy and to determine the... -
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