Research on invasive cytogenetic diagnosis in pregnant women with different indications

Objective:To explore invasive cytogenetic diagnosis(amniocentesis) in pregnant women with different indications to obtain fetal cells,analyze chromosome abnormalities and its detection rate,so as to prevent the birth of baby with deficiency.Methods: Retrospective analysis was conducted on 4905 women in Ningbo,who had underwent invasive prenatal diagnosis,invasive indications and abnormal chromosome karyotype as well as its incidence were analyzed.Results: The indications for invasive pregnant diagnosis in these 4905 women were:increased risk at prenatal screening,advanced maternal age(≧35),abnormal foundings through ultrasonograph,history of adverse pregnancy and chromosomal balance translocation carriers in either one of the couple.252 cases were found to be chromosomal abnormalities with the detection rate of 5.14%.The abnormal karyotypes were 87 cases of trisomy,14 cases of Turner′s,6 cases of partial monomer or trisomy,4 cases of triploid,28 cases of balanced translocation,1 case of ring chromosome,69 cases of inversion,36 cases of chromosome polymorphism and 7 cases of other mosaictypes.Conclusion: High-risk pregnant women of different indications should be involved in invasive cytogenetic diagnosis of fetal chromosomes,effectively controlling the incidence of birth defects.