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Objective To investigate the significances of karyotyping analysis on umbilical cord vein blood lymphocytes in the diagnosis of abnormal karyotypes in middle to late period of pregnant fetus.Methods A volume (0.5 ～ 1 ml) of umbilical cord vein blood was extracted from pregnant women in third trimester pregnancy with prenatal detection indications,and collected in sterilized anticoagulant tube.Lymphocytes were cultured and collected for karyotyping analysis after fixed and dropped on slides.Data were analyzed statistically.Results Lymphocytes were cultured successfully in 1 211 cases out of total 1 213 cases collected.Totally 142 abnormal karyotypes were found,which includes 81 cases (detection rate 6.68 ％) of non-heteromorphic abnormal chromosomes and 61 cases (detection rate 5.03％) of heteromorphic chromosomes.Among these abnormal karyotypes,50 cases (accounting for 35.21％ in total abnormal cases) of aneuploidy include 4 cases of chimerical karyotype.Structural abnormalities were found in 31 cases (accounting for 21.83％ in total abnormal cases) samples including 11 cases of translocations,17 cases of inversion and 3 cases of deletion.Conclusions Based on our findings,karyotyping analysis on umbilical cord vein blood lymphocytes could be an effective method for detect abnormal karyotypes in middle to late period of pregnant fetus and played an important role in prenatal diagnosis.
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Objective To investigate the distribution of congenital cardiovascular malformations in fetuses with chromosomal abnormalities.Method Congenital cardiovascular malformations of fetuses were diagnosed by prenatal ultrasonic cardiography from Jan 2011 to Sep 2013,and whose chromosomal karotype were tested by amniocentesis or cordocentesis.The association between chromosomal karyotypes and distribution of congenital cardiovascular malformations was analyzed.Result In 173 Fetuses with chromosomal abnormalities,20(11.56％) cases had congenital cardiovascular malformations,including seven 21-trisomies,eight 18-trisomies,three 13-trisomies and two 45,X.64％ (16/25) fetuses with congenital cardiovascular malformations accompanied with other malformations had chromosomal abnormalities.Only 1.87％ (52/4379) fetuses with normal karotype had congenital cardiovascular malformations.Conclusion Chromosomal abnormality is the most reason of complicate CHD.Chromosomal karotype test should be detected in fetus with complicate CHD.