2009Journal of Practical Obstetrics and GynecologyRequires access

The Value of Prenatal Diagnosis Indication in the Diagnosis of Fetal Chromosomal Abnormalities

Hua Ai-ling

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Abstract

Objective:To investigate the relationship between the prenatal diagnosis indication and fetal chromosomal abnormalities,and assess the value in pregnancy outcomes.Methods:Percutaneous ultrasound-monitored amniocentesis was performed in 439 pregnant women with antenatal diagnosis indications to detect the karyotype of the fetus.The detection rate of the chromosomal abnormality was compared in different group.The relationship between the type of chromosomal abnormality and pregnancy outcome was analyzed in different groups.Results:①The detection rate of the chromosomal abnormality in 439 cases was 3.42%(15 cases).The detection rate of chromosomal abnormality in balanced translocation couples was 66.67%,which was significant difference compared with elder group,Down syndrome high risk group and abnormal history of reproduction group(the chromosomal detection in couples was normal)(P0.05).The detection rate of chromosomal anomaly was 5.22%,2.28%,1.54%,16.67% in elder group,high risk of Down Syndrome group,abnormal history of reproduction,abnormal Ultrasound finding,respectively.There was no significant difference between each of them(P0.05).②Among 15 cases with abnormal karyotype,6 cases were chromosome number abnormal(5 induced labor in the second trimester),7 cases were aberrations of chromosomal structure(1 induced labor in the second trimester,1 abortion),2 cases were chimera(2 induced labor),the other 6 cases were term labor.Conclusions:Amniotic cell culture and chromosome karyotype analysis should be done in the cases with prenatal diagnosis indications.Prenatal diagnosis has not only detected fetal abnormal chromosome in time,but also provided a scientific basis for pregnant women who made a choice,and reduced the incidence of child birth defects.

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Objective:To investigate the relationship between the prenatal diagnosis indication and fetal chromosomal abnormalities,and assess the value in pregnancy outcomes.Methods:Percutaneous ultrasound-monitored amniocentesis was performed in 439 pregnant women with antenatal diagnosis indications to detect the karyotype of the fetus.The detection rate of the chromosomal abnormality was compared in different group.The relationship between the type of chromosomal abnormality and pregnancy outcome was analyzed in different groups.Results:①The detection rate of the chromosomal abnormality in 439 cases was 3.42%(15 cases).The detection rate of chromosomal abnormality in balanced translocation couples was 66.67%,which was significant difference compared with elder group,Down syndrome high risk group and abnormal history of reproduction group(the chromosomal detection in couples was normal)(P0.05).The detection rate of chromosomal anomaly was 5.22%,2.28%,1.54%,16.67% in elder group,high risk of Down Syndrome group,abnormal history of reproduction,abnormal Ultrasound finding,respectively.There was no significant difference between each of them(P0.05).②Among 15 cases with abnormal karyotype,6 cases were chromosome number abnormal(5 induced labor in the second trimester),7 cases were aberrations of chromosomal structure(1 induced labor in the second trimester,1 abortion),2 cases were chimera(2 induced labor),the other 6 cases were term labor.Conclusions:Amniotic cell culture and chromosome karyotype analysis should be done in the cases with prenatal diagnosis indications.Prenatal diagnosis has not only detected fetal abnormal chromosome in time,but also provided a scientific basis for pregnant women who made a choice,and reduced the incidence of child birth defects.

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Available abstract

Objective:To investigate the relationship between the prenatal diagnosis indication and fetal chromosomal abnormalities,and assess the value in pregnancy outcomes.Methods:Percutaneous ultrasound-monitored amniocentesis was performed in 439 pregnant women with antenatal diagnosis indications to detect the karyotype of the fetus.The detection rate of the chromosomal abnormality was compared in different group.The relationship between the type of chromosomal abnormality and pregnancy outcome was analyzed in different groups.Results:①The detection rate of the chromosomal abnormality in 439 cases was 3.42%(15 cases).The detection rate of chromosomal abnormality in balanced translocation couples was 66.67%,which was significant difference compared with elder group,Down syndrome high risk group and abnormal history of reproduction group(the chromosomal detection in couples was normal)(P0.05).The detection rate of chromosomal anomaly was 5.22%,2.28%,1.54%,16.67% in elder group,high risk of Down Syndrome group,abnormal history of reproduction,abnormal Ultrasound finding,respectively.There was no significant difference between each of them(P0.05).②Among 15 cases with abnormal karyotype,6 cases were chromosome number abnormal(5 induced labor in the second trimester),7 cases were aberrations of chromosomal structure(1 induced labor in the second trimester,1 abortion),2 cases were chimera(2 induced labor),the other 6 cases were term labor.Conclusions:Amniotic cell culture and chromosome karyotype analysis should be done in the cases with prenatal diagnosis indications.Prenatal diagnosis has not only detected fetal abnormal chromosome in time,but also provided a scientific basis for pregnant women who made a choice,and reduced the incidence of child birth defects.

Key concepts: Medicine, Amniocentesis, Chromosomal Abnormality, Karyotype, Abnormality, Prenatal diagnosis, Obstetrics, Abortion

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