2013Chinese Journal of Birth Health & HeredityRequires access

Analysis of 91 cases of abnormal karyotype of chromosome in prenatal diagnosis in Huaihua are

Feng Zong

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Abstract

Objective: through the analysis of indication in nearly 4 years in Huaihua area of amniotic fluid cells abnormal karyotype of chromosome in prenatal diagnosis,prenatal diagnosis indications on the prevention of birth defects of the value.Methods: From July 30 2008 to July 2012 in our hospital due to the high risk of prenatal serum screening 21-trisomy(DS),18-three-body high-risk(ES),ultrasonography of fetal chromosomal abnormalities such as fetal karyotype: single umbilical artery,polyhydramnios,mild ventriculomegaly,fetal choroid plexus cyst,multiple deformity underwent amniocentesis for prenatal diagnosis analysis.Results: 1664 cases of prenatal diagnosis of fetal chromosome abnormalities found in 91 cases,the detection rate of abnormal chromosome 5.47%.The sex chromosomes in 12 cases,abnormal sex chromosome and chromosome abnormalities in 1 cases,9 cases of trisomy 18,trisomy 21 in 11 cases(8 cases,3 cases with free translocation type),3 cases of trisomy 13,2 cases of balanced translocation,pericentric heterochromatin of chromosome 16 in 18 cases,8 cases,3 repeated polyploid cases,the abnormality in 34 cases.In 91 cases of abnormal due to abnormal development of fetus as indications of 28 cases,DS 44 cases with high risk,high risk of 8 cases of ES,β-HCGMOM values increased in 5 cases,6 cases of high risk age.Conclusion: Prenatal serum screening in pregnancy are effective measures to prevent birth defects,35 years of age or older pregnant women underwent prenatal diagnosis is still necessary,serum screening single numerical abnormality in times,higher fetal structural abnormalities and ultrasonic soft indexes and chromosomal abnormalities associated.

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Objective: through the analysis of indication in nearly 4 years in Huaihua area of amniotic fluid cells abnormal karyotype of chromosome in prenatal diagnosis,prenatal diagnosis indications on the prevention of birth defects of the value.Methods: From July 30 2008 to July 2012 in our hospital due to the high risk of prenatal serum screening 21-trisomy(DS),18-three-body high-risk(ES),ultrasonography of fetal chromosomal abnormalities such as fetal karyotype: single umbilical artery,polyhydramnios,mild ventriculomegaly,fetal choroid plexus cyst,multiple deformity underwent amniocentesis for prenatal diagnosis analysis.Results: 1664 cases of prenatal diagnosis of fetal chromosome abnormalities found in 91 cases,the detection rate of abnormal chromosome 5.47%.The sex chromosomes in 12 cases,abnormal sex chromosome and chromosome abnormalities in 1 cases,9 cases of trisomy 18,trisomy 21 in 11 cases(8 cases,3 cases with free translocation type),3 cases of trisomy 13,2 cases of balanced translocation,pericentric heterochromatin of chromosome 16 in 18 cases,8 cases,3 repeated polyploid cases,the abnormality in 34 cases.In 91 cases of abnormal due to abnormal development of fetus as indications of 28 cases,DS 44 cases with high risk,high risk of 8 cases of ES,β-HCGMOM values increased in 5 cases,6 cases of high risk age.Conclusion: Prenatal serum screening in pregnancy are effective measures to prevent birth defects,35 years of age or older pregnant women underwent prenatal diagnosis is still necessary,serum screening single numerical abnormality in times,higher fetal structural abnormalities and ultrasonic soft indexes and chromosomal abnormalities associated.

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Available abstract

Objective: through the analysis of indication in nearly 4 years in Huaihua area of amniotic fluid cells abnormal karyotype of chromosome in prenatal diagnosis,prenatal diagnosis indications on the prevention of birth defects of the value.Methods: From July 30 2008 to July 2012 in our hospital due to the high risk of prenatal serum screening 21-trisomy(DS),18-three-body high-risk(ES),ultrasonography of fetal chromosomal abnormalities such as fetal karyotype: single umbilical artery,polyhydramnios,mild ventriculomegaly,fetal choroid plexus cyst,multiple deformity underwent amniocentesis for prenatal diagnosis analysis.Results: 1664 cases of prenatal diagnosis of fetal chromosome abnormalities found in 91 cases,the detection rate of abnormal chromosome 5.47%.The sex chromosomes in 12 cases,abnormal sex chromosome and chromosome abnormalities in 1 cases,9 cases of trisomy 18,trisomy 21 in 11 cases(8 cases,3 cases with free translocation type),3 cases of trisomy 13,2 cases of balanced translocation,pericentric heterochromatin of chromosome 16 in 18 cases,8 cases,3 repeated polyploid cases,the abnormality in 34 cases.In 91 cases of abnormal due to abnormal development of fetus as indications of 28 cases,DS 44 cases with high risk,high risk of 8 cases of ES,β-HCGMOM values increased in 5 cases,6 cases of high risk age.Conclusion: Prenatal serum screening in pregnancy are effective measures to prevent birth defects,35 years of age or older pregnant women underwent prenatal diagnosis is still necessary,serum screening single numerical abnormality in times,higher fetal structural abnormalities and ultrasonic soft indexes and chromosomal abnormalities associated.

Key concepts: Prenatal diagnosis, Trisomy, Medicine, Chromosomal translocation, Obstetrics, Karyotype, Amniocentesis, Single umbilical artery

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