Brambati B, Macintosh M C, Teisner B, Maguiness S, Shrimanker K, Lanzani A, Bonacchi I, Tului L, Chard T, Grudzinskas J G
Academic Unit of Obstetrics & Gynaecology, London Hospital, Whitechapel, UK.
Br J Obstet Gynaecol. 1993 Apr;100(4):324-6. doi: 10.1111/j.1471-0528.1993.tb12973.x.
To assess the relation between maternal serum pregnancy associated plasma protein A (PAPP-A) in the first trimester and the outcome of pregnancy by karyotype.
A retrospective study of PAPP-A levels in blood samples collected prior to chorionic villus sampling.
Milan, Italy.
Five hundred twenty-two women aged 20 to 47, at 7 to 11 weeks gestation, prior to undergoing chorionic villus sampling. Four hundred forty-five women had a pregnancy with a normal karyotype; in 30 pregnancies the karyotype was abnormal (including 14 cases of Down's syndrome and 7 of trisomy 18).
Normal or abnormal fetal karyotype. Serum PAPP-A at 6 to 11 weeks gestation measured by radioimmunoassay.
The median value of PAPP-A in the abnormal group was 0.27 multiples of the normal median (MoM). This is significantly lower than the median value in the normal group (1.01 MoM) (95% CI for the difference 0.46-0.84 MoM; P < 0.00001 Mann-Whitney test).
There is an association between low levels of PAPP-A in the first trimester with chromosome anomalies. Screening by measurement of PAPP-A might detect 60% of cases of Down's syndrome in the first trimester with a false positive rate of 5%.
评估孕早期母体血清妊娠相关血浆蛋白A（PAPP-A）与染色体核型妊娠结局之间的关系。
对绒毛取样前采集的血样中PAPP-A水平进行回顾性研究。
意大利米兰。
522名年龄在20至47岁之间、妊娠7至11周且即将接受绒毛取样的女性。其中445名女性的胎儿染色体核型正常；30名女性的胎儿染色体核型异常（包括14例唐氏综合征和7例18三体综合征）。
胎儿染色体核型正常或异常。采用放射免疫法测定妊娠6至11周时的血清PAPP-A。
异常组中PAPP-A的中位数为正常中位数的0.27倍（MoM）。这显著低于正常组的中位数（1.01 MoM）（差异的95%置信区间为0.46 - 0.84 MoM；曼-惠特尼检验，P < 0.00001）。
孕早期PAPP-A水平低与染色体异常之间存在关联。通过检测PAPP-A进行筛查可能在孕早期检测出60%的唐氏综合征病例，假阳性率为5%。
