학술논문
Noninvasive fetal RHD genotyping using cell-free fetal DNA incorporating fetal RASSF1A marker in RhD-negative pregnant women in Korea
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- 영문명
- 발행기관
- 대한의학유전학회
- 저자명
- Sung-Hee Han Young-Ho Yang Jae-Song Ryu Young-Jin Kim Kyoung-Ryul Lee
- 간행물 정보
- 『대한의학유전학회지』제12권 제2호, 100~108쪽, 전체 9쪽
- 주제분류
- 의약학 > 기타의약학
- 파일형태
- 발행일자
- 2015.12.31
4,000원
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국문 초록
영문 초록
Purpose: Conventional methods for the prenatal detection of fetal RhD status involve invasive procedures such as fetal blood sampling and amniocentesis. The identification of cell-free fetal DNA (cffDNA) in maternal plasma creates the possibility of determining fetal RhD status by analyzing maternal plasma DNA. However, some technical problems still exist, especially the lack of a positive control marker for the presence of fetal DNA. Therefore, we assessed the feasibility and accuracy of fetal RHD genotyping incorporating the RASSF1A epigenetic fetal DNA marker from cffDNA in the maternal plasma of RhDnegative pregnant women in Korea.
Materials and Methods: We analyzed maternal plasma from 41 pregnant women identified as RhD-negative by serological testing. Multiplex real-time PCR was performed by amplifying RHD exons 5 and 7 and the SRY gene, with RASSF1A being used as a gender-independent fetal epigenetic marker. The results were compared with those obtained by postnatal serological analysis of cord blood and gender identification.
Results: Among the 41 fetuses, 37 were RhD-positive and 4 were RhD-negative according to the serological analysis of cord blood. There was 100% concordance between fetal RHD genotyping and serological cord blood results. Detection of the RASSF1A gene verified the presence of cffDNA, and the fetal SRY status was correctly detected in all 41 cases.
Conclusion: Noninvasive fetal RHD genotyping with cffDNA incorporating RASSF1A is a feasible, reliable, and accurate
method of determining fetal RhD status. It is an alternative to amniocentesis for the management of RhD-negative women and reduces the need for unnecessary RhIG prophylaxis.
목차
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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