CAJ | 학술논문

目的：探讨无创胎儿染色体非整倍体检测技术（non-invasive fetal trisomy test, NIFTY）在胎儿染色体非整倍体产前筛查应用中的特异性和灵敏度。方法利用新一代高通量并行测序技术对母体外周血中的胎儿游离DNA（cell-free DNA, cfDNA）进行定量分析，根据相应DNA含量的变化推断胎儿染色体的异常状况。结果2012年3月至2013年5月，检测孕12~24周的孕妇外周血标本，对233份已结束妊娠的孕妇数据进行分析评估。其中结果为染色体非整倍体高风险11例，低风险结果222例。在高风险病例中21三体5例；18三体3例；13三体1例；性染色体X0异常2例。所有高风险结果经细胞遗传学检测后确认与母血胎儿cfDNA检测结果一致，检测特异性100.0%。筛查低风险结果222例，均已分娩，临床证实为正常婴儿，检测灵敏度100.0%。结论无创胎儿游离DNA检测是一种很好的胎儿非整倍体异常的产前筛查技术。相对于目前普遍采用的孕早期或孕中期血清学产前筛查技术，胎儿cfDNA检测更加可靠，无创性的取样过程对孕妇和胎儿无损伤，具有更好的敏感度和特异性。
목적：탐토무창태인염색체비정배체검측기술（non-invasive fetal trisomy test, NIFTY）재태인염색체비정배체산전사사응용중적특이성화령민도。방법이용신일대고통량병행측서기술대모체외주혈중적태인유리DNA（cell-free DNA, cfDNA）진행정량분석，근거상응DNA함량적변화추단태인염색체적이상상황。결과2012년3월지2013년5월，검측잉12~24주적잉부외주혈표본，대233빈이결속임신적잉부수거진행분석평고。기중결과위염색체비정배체고풍험11례，저풍험결과222례。재고풍험병례중21삼체5례；18삼체3례；13삼체1례；성염색체X0이상2례。소유고풍험결과경세포유전학검측후학인여모혈태인cfDNA검측결과일치，검측특이성100.0%。사사저풍험결과222례，균이분면，림상증실위정상영인，검측령민도100.0%。결론무창태인유리DNA검측시일충흔호적태인비정배체이상적산전사사기술。상대우목전보편채용적잉조기혹잉중기혈청학산전사사기술，태인cfDNA검측경가가고，무창성적취양과정대잉부화태인무손상，구유경호적민감도화특이성。
Objective To evaluate the specificity and sensitivity of non-invasive fetal trisomy test (NIFTY) and study the prospects and feasibility of detected fetal DNA in maternal blood for prenatal screening of fetal chromosomal a-neuploidies. Methods NIFTY utilizes new generation high-throughput massively parallel DNA sequencing technologies to quantitatively analyze fetal cell-free DNA circulating in maternal plasma. According to the altered concentration of DNA to estimate the fetal chromosome numbers. Results From Mar, 2012 to May, 2013, 233 pregnant women in total were de-tected whose gestational ages ranged from 12~24 weeks. All of them had the pregnancies terminated by normal delivery or early terminations due to abnormal fetus. Eleven high risk pregnancies were detected during this period. In these high risk cases, 5 were Trisomy 21, 3 were Trisomy 18, 1 was Trisomy 13 and 2 were sexual chromosome X0. All NIFTY screened high risk cases were confirmed by cytogenetic tests. The specificity of the test was 100%. 222 were low risk for abnormal chromosome and no abnormal baby was found after birth, therefore, the test sensitivity was 100%. Conclusion Maternal peripheral blood fetal cfDNA test is a very good test method to detect fetal chromosomal aneuploidies. Comparing to the first and second trimester maternal serology screen tests, fetal cfDNA tests are reliable, sensitive with high accuracy. As a non-invasive test, it has no damage to pregnant women and no harm to the fetus.