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由染色体异常引起的新生儿出生缺陷占0.4％。大多数染色体异常是三体性,在高龄孕妇(>35岁)中发生频率增加。由于非整倍体胎儿与胎盘发育异常有关,故预计胎儿胎盘产物可表现异常。最近在孕中期作生化检查已发现非整倍体和整倍体妊娠之间的母体血清人绒毛膜促性腺激素(hCG)和游离α-hCG及游离雌三醇(E_3)浓度有差异。现又分析了早孕期血清中胎盘产物hCG,游离α-hCG和孕酮(P),并提出联合应用作为孕早期对非整倍体的无损伤性筛选试验具有实用价值,故对既往病例行回顾性分析,样本包括;①141例孕9～12周,因母高龄行绒毛取样(VS)测定染色体结构者。②18例孕16～20周有择期流产史者。两组均为单胎妊娠。CVS病人中染色体检查证实17例胎儿为21三体,7
Birth defects caused by chromosomal abnormalities accounted for 0.4% of newborns. Most chromosomal abnormalities are trisomy and occur more frequently in older pregnant women (> 35 years). Due to aneuploidy associated with placental dysplasia, fetal placenta products are expected to show abnormalities. Recent biochemical tests in the second trimester have shown differences in maternal serum human chorionic gonadotropin (hCG), free [alpha] -hCG and free estriol (E_3) concentrations between aneuploid and euploid pregnancies. Now also analyzed the early pregnancy serum placental products hCG, free α-hCG and progesterone (P), and put forward the joint application as a non-ejaculation in early pregnancy non-invasive screening test has practical value, so the past cases of line Retrospective analysis, the sample includes; ① 141 cases of pregnancy 9 to 12 weeks, because of the age of the elderly villi sampling (VS) chromosome structure were determined. ② 18 cases of pregnancy 16 to 20 weeks have elective abortion history. Both groups were singleton pregnancies. Chromosome examination in CVS patients confirmed that 17 fetuses were trisomy 21, 7