Noninvasive fetal RHD genotyping using cell-free fetal DNA incorporating fetal RASSF1A marker in RhD-negative pregnant women in Korea

Han, Sung-Hee; Yang, Young-Ho; Ryu, Jae-Song; Kim, Young-Jin; Lee, Kyoung-Ryul

추천

검색

자료유형: 학술저널

저자정보: Han, Sung-Hee (Division of Prenatal Molecular Genetics, Department of Laboratory Medicine, Seoul Clinical Laboratories) Yang, Young-Ho (Division of Prenatal Molecular Genetics, Department of Laboratory Medicine, Seoul Clinical Laboratories) Ryu, Jae-Song (Division of Prenatal Molecular Genetics, Department of Laboratory Medicine, Seoul Clinical Laboratories) Kim, Young-Jin (Division of Prenatal Molecular Genetics, Department of Laboratory Medicine, Seoul Clinical Laboratories) Lee, Kyoung-Ryul (Division of Prenatal Molecular Genetics, Department of Laboratory Medicine, Seoul Clinical Laboratories)

저널정보: 대한의학유전학회 Journal of genetic medicine Journal of genetic medicine 제12권 제2호

발행연도: 2015.1

수록면: 100 - 108 (9page)

이용수

📌

연구주제

📖

연구배경

🔬

연구방법

🏆

연구결과

초록· 키워드

오류제보하기

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 RhD-negative 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.

#Prenatal diagnosis #RhoD antigen #RASSF1A gene #Cell-free fetal DNA

참고문헌 (30)

참고문헌 신청

Portmann C / 1997 / Antecedents to and outcomes of Rh(D) immunization: mater mothers hospital, Brisbane, 1988-1995 / Aust N Z J Obstet Gynaecol 37:12~16

Moise KJ Jr / 2002 / Management of rhesus alloimmunization in pregnancy / Obstet Gynecol 100:600~611

Lo YM / 1997 / Presence of fetal DNA in maternal plasma and serum / Lancet 350:485~487

Lo YM / 1998 / Prenatal diagnosis of fetal RhD status by molecular analysis of maternal plasma / N Engl J Med 339:1734~1738

Daniels G / 2009 / Noninvasive prenatal diagnosis of fetal blood group phenotypes : current practice and future prospects / Prenat Diagn 29:101~107

함께 읽어보면 좋을 논문

논문 유사도에 따라 DBpia 가 추천하는 논문입니다. 함께 보면 좋을 연관 논문을 확인해보세요!