[A study on population-based prenatal screening and diagnosis of Down's syndrome in Jiangsu province].
OBJECTIVE
To screen and diagnose Down's syndrome during mid-term pregnancy to reduce the number of babies with Down's syndrome.


METHODS
With the multi-level of stratified cluster sampling, twenty thousand and eight hundred and three women at 15-20 weeks gestation were screened by maternal serum AFP and beta-hCG using the time resolved fluoroimmunoassay (TRFIA). Then the screened high-risk women were diagnosed by amniocentesis, cell culture and chromosome analyses. The born children were diagnosed by follow-up and peripheral blood chromosome analyses.


RESULTS
Six fetuses were diagnosed by serum screening and amniotic fluid chromosome analyses, and 3 born children were diagnosed by follow-up and peripheral blood chromosome analyses. Nine cases of Down's syndrome were detected in total, with the positive prenatal screen rate being 67% (6/9).


CONCLUSIONS
The prenatal screening and diagnosis can reduce the birth of Down's syndrome patients and improve the population quality. However, the diagnosis accuracy still needs to be improved to further reduce the false negative rate and prevent misdiagnosis.
Liu
Qi-lan
QL
Jiangsu Provincial Institute of Science and Technology for Family Planning, Nanjing, Jiangsu, 210036 PR China. ladyliuqilan@yahoo.com.cn
Hu
Ya-li
YL
Xu
Zhen-feng
ZF
Wang
Li-juan
LJ
Sun
Qing
Q
Lin
Ning
N
Xu
Xiao-yan
XY
Liu
Yan
Y
Zhang
Jian-wei
JW
Tong
Jian-sun
JS
Wang
Xing-hai
XH
He
Jing
J
D000328:Adult; D018997:Chorionic Gonadotropin, beta Subunit, Human / Q000097:blood; D002869:Chromosome Aberrations; D004314:Down Syndrome / Q000097:blood / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism; D005260:Female; D015200:Fluoroimmunoassay; D006801:Humans; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D055815:Young Adult; D000509:alpha-Fetoproteins / Q000378:metabolism
D018997:Chorionic Gonadotropin, beta Subunit, Human; D000509:alpha-Fetoproteins