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Whole genome sequencing based noninvasive prenatal test

Cho EH

Whole genome sequencing (WGS)-based noninvasive prenatal test (NIPT) is the first method applied in the clinical setting out of various NIPT techniques. Several companies, such as Sequenom, BGI, and Illumina...
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Performance of Momguard, a new non-invasive prenatal testing protocol developed in Korea

Lee MY, Cho DY, Won HS, Hwang AR, Jeong B, Kim J, Oh M

OBJECTIVE: To evaluate the performance of Momguard, non-invasive prenatal test (NIPT) for detecting trisomy (T) 21, T18, T13, and sex-chromosome abnormalities recently developed in Korea. METHODS: This preliminary study formed part...
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ACase of the Patau Syndrome Diagnosed in Second Trimester

O YR, Kong DS, Lee GH, Back JW, Kang JH, Kim YS

  • KMID: 2280559
  • Korean J Perinatol.
  • 2005 Jun;16(2):176-180.
Patau syndrome is trisomy 13, one of the most common autosomal aberration associated with multiple congenital anomalies. Because trisomy 13 is generally associated with severe congenital anomalies and postpartum...
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A Case of Patau Syndrome Diagnosed in Antenatal Care

Bae SK, Jung JS, Kee HS, Kim YS, Kwon H, Park JH, Kim TH

  • KMID: 2272144
  • Korean J Obstet Gynecol.
  • 2003 Aug;46(8):1634-1638.
Patau syndrome is the least common and most severe viable autosomal trisomy. First identified as a cytogenic syndrome in 1960, Patau syndrome is caused by extracopy of chromosome 13. It...
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Clinical Analysis of Fetuses with Single Umbilical Artery

Song EH, Park JW, Lee WK

  • KMID: 2072343
  • Korean J Perinatol.
  • 2002 Mar;13(1):9-13.
OBJECTIVE: Our purpose was to evaluate the clinical outcomes of fetuses with a single umbilical artery(SUA). METHODS: We studied 17 fetuses with a single umbilical artery retrospectively. The maternal age, maternal...
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A case of the Patau syndrome diagnosed in second trimester

Kang GH, Yoon SJ

  • KMID: 2262195
  • Korean J Obstet Gynecol.
  • 2001 Jan;44(1):184-188.
Patau syndrome is trisomy 13, one of the abnormalities of chromosomal structure and, is relatively common with Down syndrome and Edward syndrome. Also it is associated with intrauterine growth retardation,...
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A Case of Patau Syndrome Diagnosed in Early Pregnancy

Shin DY, Kim KT, Hwang YY, Hong EK, Kim DH

  • KMID: 2261852
  • Korean J Obstet Gynecol.
  • 2000 Feb;43(2):330-333.
Patau syndrome, or Trisomy 13 is one of the most common autosomal aberration associtated with multiple congenital abnormalities. We report a case with trisomy 13 mosacism which was found during...
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A Case of Cyclopia Associated with Trisomy 13

Seok JH, Chung SW, Son SK, Lee RR, Lee DH, Kang IK, Kim IS

  • KMID: 2269767
  • Korean J Obstet Gynecol.
  • 1999 Aug;42(8):1839-1843.
Cyclopia is rare congenital craniofacial anomaly, in which the eyes are fused together and located in a single orbit. It is consistently associated with severe holoprosencephaly, which is the failure...
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A Case of Patau Syndrome with Congenital Ocular Anomaly

La TY, Kim SM, Lee JY

  • KMID: 2147756
  • J Korean Ophthalmol Soc.
  • 1997 May;38(5):884-889.
Patau syndrome, a trisomy of number 13 chromosome, is a rare congenital chromosomal anomaly accompaing many abnormalities of cardiovascular and central nervous system, kidney and extremity, face and eye. We...
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