Poon Leona C Y, Chelemen Teodora, Minekawa Ryoko, Frisova Veronika, Nicolaides Kypros H
Harris Birthright Research Centre for Fetal Medicine, King's College Hospital, London, UK.
Am J Obstet Gynecol. 2009 May;200(5):508.e1-6. doi: 10.1016/j.ajog.2008.12.029. Epub 2009 Mar 14.
The objective of this study was to investigate the potential value of ADAM12 (A disintegrin and metalloprotease) in first-trimester screening for trisomy 21 and other major chromosomal abnormalities.
The concentration of ADAM12 was measured at 11-13 weeks in cases of trisomy 21 (n = 49), trisomy 18 (n = 28), trisomy 13 (n = 20), Turner syndrome (n = 29), triploidy (n = 10), and euploid pregnancies (n = 272). The levels of ADAM12, expressed as multiples of median (MoM), were compared in cases and controls and were assessed for association with free beta-human chorionic gonadotropin (hCG) and pregnancy-associated plasma protein A (PAPP-A).
The median ADAM12 value in trisomy 21 (0.961 MoM) was not significantly different from the euploid fetuses (1.013 MoM), but in trisomy 18 (0.697 MoM), trisomy 13 (0.577 MoM), triploidy (0.426 MoM), and Turner syndrome (0.747 MoM), the levels were significantly lower. In both the euploid and aneuploid pregnancies, there was a significant association between ADAM12 and free beta-hCG and PAPP-A.
Maternal serum ADAM12 concentration at 11-13 weeks of gestation is unlikely to be useful in first-trimester screening for chromosomal abnormalities because in trisomy 21 the levels are not significantly different from normal, and in the other chromosomal defects, there is a significant association between ADAM12 and the traditional biochemical markers of free beta-hCG and PAPP-A.
本研究的目的是探讨解聚素和金属蛋白酶12（ADAM12）在孕早期筛查21三体及其他主要染色体异常中的潜在价值。
在孕11 - 13周时测量21三体（n = 49）、18三体（n = 28）、13三体（n = 20）、特纳综合征（n = 29）、三倍体（n = 10）及正常二倍体妊娠（n = 272）孕妇血清中ADAM12的浓度。将ADAM12水平以中位数倍数（MoM）表示，在病例组和对照组之间进行比较，并评估其与游离β-人绒毛膜促性腺激素（hCG）和妊娠相关血浆蛋白A（PAPP-A）的相关性。
21三体孕妇血清ADAM12的中位数（0.961 MoM）与正常二倍体胎儿（1.013 MoM）无显著差异，但18三体（0.697 MoM）、13三体（0.577 MoM）、三倍体（0.426 MoM）及特纳综合征（0.747 MoM）孕妇血清中ADAM12水平显著降低。在正常二倍体和非整倍体妊娠中，ADAM12与游离β-hCG和PAPP-A之间均存在显著相关性。
孕11 - 13周时孕妇血清ADAM12浓度不太可能用于孕早期染色体异常筛查，因为21三体孕妇血清中ADAM12水平与正常水平无显著差异，而在其他染色体缺陷中，ADAM12与游离β-hCG和PAPP-A等传统生化标志物之间存在显著相关性。
