2012年1月3日,，據(jù)《每日科學》報道,，發(fā)表在FASEB雜志2012年1月版的一個新的研究結(jié)果描述了一種能導致非侵入性別測試的發(fā)現(xiàn),，這將使準媽媽在懷孕頭三個月就可以知道嬰兒的性別,。具體來說,，來自韓國的研究人員發(fā)現(xiàn),，從懷孕母親的血液中提取的兩個酶（DYS14/GAPDH）的各種比率，可以指示寶寶是男孩還是女孩,。這種測試將會開啟此類測試的先河,。
"一般來說，早期的胎兒性別測定是通過絨毛膜絨毛取樣或羊膜穿刺術等侵入程序,。然而,，這些入侵程序能引起1~2%的流產(chǎn)風險,，而且直到懷孕后的11個星期才能進行。此外,，可靠的胎兒性別測定,，例如使用超聲則不能在第一孕期進行，因為胎兒的外生殖器發(fā)育不完整,，"Hyun Mee Ryu說,，醫(yī)學博士，就職于第一毛織總醫(yī)院婦產(chǎn)科和韓國關東大學醫(yī)學院婦女衛(wèi)生保健中心,。 "因此,，這可以減少攜帶X -連鎖染色體異常的孕婦使用侵入性程序的必要性，并通過超聲來進一步確證結(jié)果,。"
為了這一發(fā)現(xiàn),，Ryu他的同事收集了203名婦女在其懷孕的頭三個月的孕婦血漿。循環(huán)胎兒DNA的存在通過對U - PDE9A進行一個定量甲基化特異性聚合酶鏈反應證實,。多重實時聚合酶鏈反應用來同時量化母體血漿中的DYS14和GAPDH,。結(jié)果證實了出生時的性別表型。
"盡管這樣一個測試在被廣泛使用之前,，還有更多的工作需要去做,，但這篇文章表明，早在受孕后的最初幾周預測一個孩子的性別是可能的,，"Gerald Weissmann說,，醫(yī)學博士， FASEB雜志首席主編,， "目前,，父母們有時會被給予有關他們未出生的孩子性別的錯誤信息，這個測試將有助于解決目前超聲觀測結(jié)果的任何不確定性,。"（生物谷bioon.com）
doi:10.1096/fj.11-191429
PMC:
PMID:
Effective detection of fetal sex using circulating fetal DNA in first-trimester maternal plasma
J. H. Lim, S. Y. Park, S. Y. Kim, D. J. Kim, J. E. Choi, M. H. Kim, J. S. Choi, M. Y. Kim, J. H. Yang, H. M. Ryu
Abstract：The aim of this study was to develop a simple and effective method for noninvasively detecting fetal sex using circulating fetal DNA from first-trimester maternal plasma. A study was conducted with maternal plasma collected from 203 women between 5 and 12 wk of gestation. The presence of circulating fetal DNA was confirmed by a quantitative methylation-specific polymerase chain reaction of the unmethylated-PDE9A gene (U-PDE9A). Multiplex real-time PCR was used to simultaneously quantify the amount of DYS14 and GAPDH in maternal plasma. The results were confirmed by phenotype at birth. Pregnancy outcomes and U-PDE9A concentrations were obtained in all cases, including 99 male-bearing and 104 female-bearing participants. At equivalent specificity (100%), the false-negative rate was 9.1% for DYS14 quantification cycle, 7.1% for DYS14 concentration, and 0.0% for the concentration ratio of DYS14/GAPDH, respectively. In male-bearing participants, DYS14, U-PDE9A, and GAPDH concentrations were significantly lower in the false-negative case than in correct case (P<0.001 in all). Moreover, DYS14, U-PDE9A, and GAPDH concentrations showed significantly positive associations with each other (P≤0.001 in all). The ratio of DYS14/GAPDH in maternal plasma was an effective biomarker for noninvasive fetal sex detection during the first trimester, indicating that it could be useful for clinical application.—Lim, J. H., Park, S. Y., Kim, S. Y., Kim, D. J., Choi, J. E., Kim, M. H., Choi, J. S., Kim, M. Y., Yang, J. H., Ryu, H. M. Effective detection of fetal sex using circulating fetal DNA in first-trimester maternal plasma.
