2009Chinese Journal of Birth Health & HeredityRequires access

Investigation on other chromosome abnormalities detected in prenatal serum screening.

Ji Li

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Abstract

Objective:To analyze and investigate the clinical using of the prenatal serum marker screening in prenatal diagnosis of various chromosome abnormalities.Methods:Amniotic cell culture and chromosome karyotype analysis were performed for 583 pregnant women,who were at high risk of trisomy 21,trisomy 18,or detected obvious abnormal MOM of the serum makers.The data were collected during 2006 and 2007.Results:Totally,24 chromosome abnormalities were detected by amniocyte prenatal diagnosis,include 13 other chromosome abnormalities except 6 trisomy 21 fetuses and 5 trisomy 18 fetuses.Conclusion:The serum marker screening in the second trimester of pregnancy is not only effective for the trisomy syndrome 21 and 18,but also meaningful for other chromosome abnormalities,such as abnormal sexual chromosome,inversion or translocation.Gravid at high risk or with obvious aberration of one or two serum marker MOMs should be provided genetic counseling and further prenatal diagnosis,in order to avoid the birth-defective.

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Objective:To analyze and investigate the clinical using of the prenatal serum marker screening in prenatal diagnosis of various chromosome abnormalities.Methods:Amniotic cell culture and chromosome karyotype analysis were performed for 583 pregnant women,who were at high risk of trisomy 21,trisomy 18,or detected obvious abnormal MOM of the serum makers.The data were collected during 2006 and 2007.Results:Totally,24 chromosome abnormalities were detected by amniocyte prenatal diagnosis,include 13 other chromosome abnormalities except 6 trisomy 21 fetuses and 5 trisomy 18 fetuses.Conclusion:The serum marker screening in the second trimester of pregnancy is not only effective for the trisomy syndrome 21 and 18,but also meaningful for other chromosome abnormalities,such as abnormal sexual chromosome,inversion or translocation.Gravid at high risk or with obvious aberration of one or two serum marker MOMs should be provided genetic counseling and further prenatal diagnosis,in order to avoid the birth-defective.

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Available abstract

Objective:To analyze and investigate the clinical using of the prenatal serum marker screening in prenatal diagnosis of various chromosome abnormalities.Methods:Amniotic cell culture and chromosome karyotype analysis were performed for 583 pregnant women,who were at high risk of trisomy 21,trisomy 18,or detected obvious abnormal MOM of the serum makers.The data were collected during 2006 and 2007.Results:Totally,24 chromosome abnormalities were detected by amniocyte prenatal diagnosis,include 13 other chromosome abnormalities except 6 trisomy 21 fetuses and 5 trisomy 18 fetuses.Conclusion:The serum marker screening in the second trimester of pregnancy is not only effective for the trisomy syndrome 21 and 18,but also meaningful for other chromosome abnormalities,such as abnormal sexual chromosome,inversion or translocation.Gravid at high risk or with obvious aberration of one or two serum marker MOMs should be provided genetic counseling and further prenatal diagnosis,in order to avoid the birth-defective.

Key concepts: Trisomy, Prenatal diagnosis, Karyotype, Chromosomal translocation, Obstetrics, Chromosome, Fetus, Genetic counseling

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