Milunsky A, Nebiolo L M, Bellet D
Center for Human Genetics, Boston University School of Medicine, Mass. 02118.
Fetal Diagn Ther. 1993 Jul-Aug;8(4):221-4. doi: 10.1159/000263830.
The addition of maternal serum intact hCG (MShCG) to routine maternal serum alpha-fetoprotein screening for Down's syndrome is expected to yield a detection efficiency around 60% for an amniocentesis rate approximating 5%. We compared the detection rate using intact MShCG and free-beta hCG in 480 normal pregnancies and 48 with chromosome defects (Down's syndrome 31, other chromosome defects 17). No significant difference in detection efficiency was determined. However, since the false-positive rate with free-beta hCG was almost twice that found with intact hCG, and the detection rate for other chromosome defects was more than double, the intact MShCG assay is currently preferred. Free-beta hCG earlier in gestation may, however, ultimately prove superior in maternal screening for chromosome defects.
在常规孕妇血清甲胎蛋白筛查唐氏综合征时加入母体血清完整人绒毛膜促性腺激素（MShCG），对于羊膜穿刺率约为5%的情况，预计检测效率约为60%。我们比较了480例正常妊娠和48例染色体缺陷（唐氏综合征31例，其他染色体缺陷17例）中使用完整MShCG和游离β-人绒毛膜促性腺激素的检测率。未确定检测效率有显著差异。然而，由于游离β-人绒毛膜促性腺激素的假阳性率几乎是完整人绒毛膜促性腺激素的两倍，且其他染色体缺陷的检测率超过两倍，目前更倾向于使用完整MShCG检测法。不过，妊娠早期的游离β-人绒毛膜促性腺激素最终可能在孕妇染色体缺陷筛查中被证明更具优势。
