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Obstetrical Outcomes of Amniocentesis or Chorionic Villus Sampling in Dichorionic Twin Pregnancies

Kim MS, Moon MJ, Kang S, Jung SH, Chang SW, Ki HJ, Kim B, Ahn E

BACKGROUND: Under certain situations, women with twin pregnancies may be counseled to undergo invasive prenatal diagnostic testing. Chorionic villus sampling and amniocentesis are the two generally performed invasive prenatal diagnostic...
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Change in rates of prenatal tests for chromosomal abnormality over a 12-year period in women of advanced maternal age

Kim SM, Kim HH, Han YJ, Choi JS, Ryu HM, Yang S, Kim MH

OBJECTIVE: In 2007, the American College of Obstetricians and Gynecologists (ACOG) recommended that all pregnant women be offered screening or diagnostic tests for chromosomal abnormalities regardless of their age. Noninvasive...
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Partial molar pregnancy and coexisting fetus with Turner syndrome: Case report and literature review

Park JE, Park JK, Cho IA, Baek JC

Partial hydatidiform mole and coexisting fetus is a rare entity with antecedent high risk of maternal and fetal complications, and risk of persistent trophoblastic disease in later life. Here, we...
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Role of fetal ultrasound in prenatally diagnosed de novo balanced translocations

Seong ES, Youn HJ, Park MK, Boo HY, Lee BY, Ryu HM, Han YJ

PURPOSE: This study aimed to investigate fetal ultrasonographic findings in cases of prenatally diagnosed de novo balanced translocations and the role of fetal ultrasound in prenatal genetic counseling. MATERIALS AND METHODS:...
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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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Application of digital polymerase chain reaction technology for noninvasive prenatal test

Lee SY, Hwang SY

Recently, noninvasive prenatal test (NIPT) has been adopted as a primary screening tool for fetal chromosomal aneuploidy. The principle of NIPT lies in isolating the fetal fraction of cell-free DNA...
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Non-invasive prenatal test using cell free DNA

Kim K

Although conventional prenatal screening tests for Down syndrome have been developed over the past 20 years, the positive predictive value of these tests is around 5%. Through these tests, many...
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Characterization of a prenatally diagnosed de novo der(X)t(X;Y)(q27;q11.23) of fetus

Park SH, Shim SH, Jung YW, Kim DH, Kang SJ, Park SO, Cha DH

A 31-year-old woman, who was pregnant with twins, underwent chorionic villus sampling because of increased nuchal translucency in one of the fetuses. Cytogenetic analysis showed a normal karyotype in the...
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Analysis of increased nuchal translucency: Chorionic villi sampling and second-trimester level II sonography

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

PURPOSE: To assess the outcomes of increased fetal nuchal translucency (NT), to aid in prenatal counseling and management in our practice. MATERIALS AND METHODS: We retrospectively reviewed the medical records of...
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Chorionic villus sampling

Shim SS

Chorionic villus sampling has gained importance as a tool for early cytogenetic diagnosis with a shift toward first trimester screening. First trimester screening using nuchal translucency and biomarkers is effective...
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Non-invasive prenatal diagnosis of fetal trisomy 21 using cell-free fetal DNA in maternal blood

Lim JH, Park SY, Ryu HM

Since the existence of cell-free fetal DNA (cff-DNA) in maternal circulation was discovered, it has been identified as a promising source of fetal genetic material in the development of reliable...
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Paracentric Inversions Found in Prenatal Diagnosis

Lee SY, Lee BY, Park JY, Choi EY, Lee YW, Oh AR, Ryu HM, Park SY

PURPOSE: This study was designed to confirm whether the paracentric inversions of fetuses and parents may be harmless. MATERIALS AND METHODS: We report 10 cases (0.14%) with paracentric inversions among 7,181...
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Prenatal diagnosis of double aneuploidy, 48, XXY, +21 (Down-Klinefelter syndrome)

Kim YR, Park HR, Jang JH, Chang SW, Moon MJ, Jung SH

The occurrence of double aneuploidy in the same individual is a relatively rare phenomenon and the incidence varies according to the literature. We report an exceptional case of double aneuploidy...
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Prenatal diagnosis of trisomy 7 mosaicism with omphalocele in the first trimester of pregnancy

Ko MK, Cho IA, Lee JI, Park JK, Shin JK, Choi WJ, Lee SA, Lee JH, Paik WY

  • KMID: 2393149
  • Korean J Obstet Gynecol.
  • 2012 Oct;55(10):751-755.
The trisomy 7 is rare autosomal aneuploidy worldwide, which accounts for 4%-10% of all trisomies, and most of the cases are mosaicism. The partial trisomy 7 mosaicism demonstrates facial deformities,...
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Ten-year Clinical Study of Chorionic Villus Sampling

Kim SH, Shim SH, Baek JW, Cha DH

PURPOSE: We evaluated indications for chorionic villus sampling (CVS), the positive predictive value of CVS for fetal chromosomal abnormalities, and the fetal loss rate after CVS at CHA Medical Center. MATERIALS...
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Prenatal detection of skeletal dysplasia using ultrasound and molecular diagnosis

Kim JM, Kim NY, Kim JY, You SY, Oh KY, Park WI, Lee KA, Kim YJ, Chun SH, Park MH

OBJECTIVE: To determine the accuracy and usefulness of prenatal ultrasonographic and molecular genetic diagnosis in detection of skeletal dysplasia. METHODS: This study was based upon data of the 17 cases of...
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Cytogenetic Analysis of Amniotic Fluid, CVS, and Abortus in a University Hospital for Ten Years

Choi SH, Ahn JY, Kim KH, Yang HR, Lee YH, Yoo MS, Suh HI, Park PW, Seo YH

  • KMID: 1466833
  • J Lab Med Qual Assur.
  • 2009 Dec;31(2):293-299.
BACKGROUND: This study was conducted to analyze, compare, and assess the indications, incidences, and types of chromosomal abnormalities in the amniotic fluid, chorionic villus sampling (CVS), and abortus and to...
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Recent Trends in Prenatal Diagnosis of Fetal Malformations

Kim MY

The frequency of fetal malformations accounts for around 3~5% and evaluation of the health of the fetus and screening for fetal malformations has become an important part of prenatal care....
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Clinical analysis of chorionic villus sampling

Kim JS, Won HS, Baek SJ, Choi ES, Shim JY, Kim SH, Kim JH, Lee PR, Kim A

  • KMID: 2280763
  • Korean J Perinatol.
  • 2008 Mar;19(1):24-36.
OBJECTIVE: The aims of this study were 1) to evaluate the indications of chorionic villus sampling CVS) and the positive predictive value for fetal chromosomal abnormalities, 2) to evaluate the...
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Prenatal diagnosis of partial trisomy 3q with omphalocele in the first trimester of pregnancy

Joung SY, Park JK, Kim SI, Kang HY, Shin JK, Lee SA, Lee JH, Paik WY

  • KMID: 2077797
  • Korean J Obstet Gynecol.
  • 2007 Oct;50(10):1409-1413.
Abnormal offsprings from balanced translocation carriers usually inherit only one of the translocated products and are therefore partially trisomic for one chromosome and partially monosomic for another. Partial trisomy 3q...
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