摘要
唐氏综合征(Down's syndrome,DS)筛查是预防先天性出生缺陷的重要环节,随着人们认识的深入,对高危人群进行前瞻性筛查在各级医院中将应用的更为广泛。本文对DS产前筛查(antenatal screening)的重要性、筛查对象、方法(软件)及相关概念进行综述,以期对该病的产前筛查具有一定的促进作用。
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参考文献
[1] 李璞.医学遗传学[M].北京:中国协和医科大学出版社,1999:128-130.
[2] Beaman JM, Goldie DJ. Second trimester screening for Down's syndrome: 7 years experience[J]. Journal of Medical Screening,2001,8(3):128-131.
[3] Aitken DA, Wallace EM, Crossley JA, et al. Dimeric inhibin A as a marker for Down's syndrome in early pregnancy[J]. The New England Journal of Medicine,1996,334(19):1231-1236.
[4] Brock D, Barron L, Holloway S, et al. First trimester maternal serum biochemical indicators in Down syndrome[J]. Prenatal Diagnosis,1990,10(4):245-251.
[5] 化爱玲,张月莲,郑梅玲,等. 唐氏综合征产前诊断与筛查[J]. 中国优生与遗传杂志,2005,13(7):65-66.
[6] Wald NJ, Cuckle HS, Densem JW, et al. Maternal serum screening for Down's syndrome in early pregnancy[J]. BMJ, 1988, 297: 883-887.
[7] Krantz DA, Larsen JW, Buchanan PD, et al. First-trimester Down syndrome screening: Free β-human chorionic gonadotropin and pregnancy-associated plasma protein A[J]. American Journal of Obstetrics and Gynecology, 1998, 174(2): 612-616.
[8] Muller F, Aegerter P, Ngo S,et al. Software for prenatal Down syndrome risk calculation: a comparative study of six software packages[J]. Clinical Chemistry, 1999, 45(8): 1278-1280.
[9] 魏瑗,杨孜,杨池荪,等. 孕期血清学筛查唐氏综合征[J]. 中国优生与遗传杂志,2006,14(2):24-25.
[10] 卓乐雯,廖灿,宋淑本,等. 唐氏综合症产前筛查研究[J]. 中国实用妇科与产科杂志,2004,20(7):414-416.
[11] Reynolds TM, Aldis J. Median parameters for Down's syndrome screening should be calculated using a moving time-window method[J]. Annals of Clinical Biochemistry, 2008, 45(6): 567-570.
[2] Beaman JM, Goldie DJ. Second trimester screening for Down's syndrome: 7 years experience[J]. Journal of Medical Screening,2001,8(3):128-131.
[3] Aitken DA, Wallace EM, Crossley JA, et al. Dimeric inhibin A as a marker for Down's syndrome in early pregnancy[J]. The New England Journal of Medicine,1996,334(19):1231-1236.
[4] Brock D, Barron L, Holloway S, et al. First trimester maternal serum biochemical indicators in Down syndrome[J]. Prenatal Diagnosis,1990,10(4):245-251.
[5] 化爱玲,张月莲,郑梅玲,等. 唐氏综合征产前诊断与筛查[J]. 中国优生与遗传杂志,2005,13(7):65-66.
[6] Wald NJ, Cuckle HS, Densem JW, et al. Maternal serum screening for Down's syndrome in early pregnancy[J]. BMJ, 1988, 297: 883-887.
[7] Krantz DA, Larsen JW, Buchanan PD, et al. First-trimester Down syndrome screening: Free β-human chorionic gonadotropin and pregnancy-associated plasma protein A[J]. American Journal of Obstetrics and Gynecology, 1998, 174(2): 612-616.
[8] Muller F, Aegerter P, Ngo S,et al. Software for prenatal Down syndrome risk calculation: a comparative study of six software packages[J]. Clinical Chemistry, 1999, 45(8): 1278-1280.
[9] 魏瑗,杨孜,杨池荪,等. 孕期血清学筛查唐氏综合征[J]. 中国优生与遗传杂志,2006,14(2):24-25.
[10] 卓乐雯,廖灿,宋淑本,等. 唐氏综合症产前筛查研究[J]. 中国实用妇科与产科杂志,2004,20(7):414-416.
[11] Reynolds TM, Aldis J. Median parameters for Down's syndrome screening should be calculated using a moving time-window method[J]. Annals of Clinical Biochemistry, 2008, 45(6): 567-570.
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