지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2016.1
- 수록면
- 444 - 453 (10page)
이용수
초록· 키워드
오류제보하기
ObjectiveTo validate quantitative fluorescent polymerase chain reaction (QF-PCR) via chorionic villus sampling (CVS) for the diagnosis of fetal aneuploidies.
MethodsWe retrospectively reviewed the medical records of consecutive pregnant women who had undergone CVS at Cheil General Hospital between December 2009 and June 2014. Only cases with reported QF-PCR before long-term culture (LTC) for conventional cytogenetic analysis were included, and the results of these two methods were compared.
ResultsA total of 383 pregnant women underwent QF-PCR and LTC via CVS during the study period and 403 CVS specimens were collected. The indications of CVS were as follows: abnormal first-trimester ultrasonographic findings, including increased fetal nuchal translucency (85.1%), advanced maternal age (6.8%), previous history of fetal anomalies (4.2%), and positive dual test results for trisomy 21 (3.9%). The results of QF-PCR via CVS were as follows: 76 (18.9%) cases were identified as trisomy 21 (36 cases), 18 (33 cases), or 13 (seven cases), and 4 (1.0%) cases were suspected to be mosaicism. All results of common autosomal trisomies by QF-PCR were consistent with those of LTC and there were no false-positive findings. Four cases suspected as mosaicism in QF-PCR were confirmed as non-mosaic trisomies of trisomy 21 (one case) or trisomy 18 (three cases) in LTC.
ConclusionQF-PCR via CVS has the advantage of rapid prenatal screening at an earlier stage of pregnancy for common chromosomal trisomies and thus can reduce the anxiety of parents. In particular, it can be helpful for pregnant women with increased fetal nuchal translucency or abnormal first-trimester ultrasonographic findings.
목차
등록된 정보가 없습니다.
참고문헌 (25)
참고문헌 신청
Mansfield ES / 1993 / Diagnosis of Down syndrome and other aneuploidies using quantitative polymerase chain reaction and small tandem repeat polymorphisms / Hum Mol Genet 2:43~50
Mann K / 2004 / Strategies for the rapid prenatal diagnosis of chromosome aneuploidy / Eur J Hum Genet 12:907~915
Mann K / 2001 / Development and implementation of a new rapid aneuploidy diagnostic service within the UK National Health Service and implications for the future of prenatal diagnosis / Lancet 358:1057~1061
Pertl B / 1999 / Rapid detection of chromosome aneuploidies by quantitative fluorescence PCR : first application on 247chorionic villus samples / J Med Genet 36:300~303
Levett LJ / 2001 / A large-scale evaluation of amnio-PCR for the rapid prenatal diagnosis of fetal trisomy / Ultrasound Obstet Gynecol 17:115~118
Mann K / 2004 / Strategies for the rapid prenatal diagnosis of chromosome aneuploidy / Eur J Hum Genet 12:907~915
Mann K / 2001 / Development and implementation of a new rapid aneuploidy diagnostic service within the UK National Health Service and implications for the future of prenatal diagnosis / Lancet 358:1057~1061
Pertl B / 1999 / Rapid detection of chromosome aneuploidies by quantitative fluorescence PCR : first application on 247chorionic villus samples / J Med Genet 36:300~303
Levett LJ / 2001 / A large-scale evaluation of amnio-PCR for the rapid prenatal diagnosis of fetal trisomy / Ultrasound Obstet Gynecol 17:115~118
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