학술논문
Noninvasive prenatal test for the pregnancy with Turner syndrome mosaicism 45, X/47, XXX
이용수 20
- 영문명
- 발행기관
- 대한의학유전학회
- 저자명
- Ji Hye Kim Gun Ho Lee Dong Hyun Cha Eun-Hae Cho Yong Wook Jung
- 간행물 정보
- 『대한의학유전학회지』제12권 제2호, 118~122쪽, 전체 5쪽
- 주제분류
- 의약학 > 기타의약학
- 파일형태
- 발행일자
- 2015.12.31
4,000원
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이 학술논문 정보는 (주)교보문고와 각 발행기관 사이에 저작물 이용 계약이 체결된 것으로, 교보문고를 통해 제공되고 있습니다.
국문 초록
영문 초록
Noninvasive prenatal test (NIPT) is a novel screening method for the diagnosis of fetal chromosomal aneuploidies. NIPT is based on technology that detects cell-free fetal DNA in maternal plasma and analyzes it with massively parallel sequencing technology to determine whether the fetus is at risk of trisomy 21, trisomy 18, trisomy 13 or sex chromosome abnormalities(SCAs). NIPT has been reported to have sensitivity of 99% and a false positive rate of less than 1% for detecting trisomy 21 and trisomy 18. Although extension of the application of NIPT to other SCAs has been attempted, there are concerns in extending NIPT to SCAs because of maternal or fetal mosaicism, undetected maternal SCAs, and multiple pregnancies. Recently, we assessed a pregnancy with the rare Turner syndrome mosaicism 45, X/47, XXX, which was reported as 45, X with NIPT. We present the case here and briefly review the current literatures on NIPT in testing for fetal monosomy X. To the best of our knowledge, this is the first report of the 45, X/47, XXX mosaicism in Korea to be reported as 45, X by NIPT with whole genome sequencing. This case report will provide valuable information for counseling women who want to undergo NIPT.
목차
키워드
해당간행물 수록 논문
- Validation of fetus aneuploidy in 221 Korean clinical samples using noninvasive chromosome examination
- Application of digital polymerase chain reaction technology for noninvasive prenatal test
- Noninvasive prenatal test for the pregnancy with Turner syndrome mosaicism 45, X/47, XXX
- Observed frequency of fetal trisomy between 16 and 24 gestational weeks in pregnant women older than 34 years at delivery
- Split hand/foot malformation with long-bone deficiency and BHLHA9 duplication
- Identification of causative mutations in patients with Leigh syndrome and MERRF by mitochondrial DNAtargeted next-generation sequencing
- Noninvasive prenatal test for fetal chromosomal aneuploidies by massively parallel sequencing of cellfree fetal DNA in maternal plasma
- Noninvasive fetal RHD genotyping using cell-free fetal DNA incorporating fetal RASSF1A marker in RhD-negative pregnant women in Korea
- Advantages of the single nucleotide polymorphismbased noninvasive prenatal test
- Evaluating the results of the Momguard noninvasive prenatal test
- Whole genome sequencing based noninvasive prenatal test
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