Journal of International Obstetrics and Gynecology ›› 2014, Vol. 41 ›› Issue (6): 683-685.

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Karyotype Analysis of 576 Cases of Congenital Malformations

HUANG Hong-qian,FEI Dong-mei,OUYANG Lu-ping,LIU Tian-sheng,SUN Wei-jia,ZHENG Chen-guang   

  1. Central Laboratory of Genetic Metabolism,The Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region,Nanning 530023,China
  • Received:1900-01-01 Revised:1900-01-01 Published:2014-12-15 Online:2014-12-15
  • Contact: ZHENG Chen-guang

Abstract: Objective:By means of ultrasound diagnosis of congenital oaf fetal karyotype analysis,we summarizes the relationship between the chromosomal abnormalities and deformed parts and number of deformity, providing the basis for prenatal diagnosis. Methods:From January 2009 to December 2013 in our hospital an amniocentest or cord blood puncture were performed byindications for prenatal diagnosis of congenital malformations,576 cases of chromosome karyotype analysis of fetus,were investigate the relationship between the congenital oaf and chromosomal abnormalities. Results:The success rate of cell culture successfully are 551 cases(95.66%);chromosomal abnormalities in 90 cases(16.33%),with 63 cases often dyed anomaly of chromosome abnormality (70.00%);sex chromosome abnormality 25 cases(27.78% of chromosomal abnormality);triploid in 1 case;marker chromosomes in 1 case. Freak of chromosome abnormalities, the mainly types are cardiac malformation 31 cases(34.44%),skin edema 30 cases(33.33%),abnormal face and neck 21 cases(23.33%),abnormal brain structure 20 cases(22.22%),and the digestive system malformation 11 cases(12.22%). Conclusions:Congenital oaf has high incidence of chromosomal abnormalities. For ultrasound tips for congenital oaf , prenatal diagnosis ivtervention should be made to avoid the chromosome abnormalities in children with birth.

Key words: Congenital abnormalities, Chromosome aberrations, Prenatal diagnosis, Ultrasonography, prenatal