2 475 cases of fetal karyotype detection and prenatal diagnosis indications analysis / 重庆医学

Objective To analyze the chromosome karyotypes,prenatal diagnosis indications and pregnancy outcomes of high-risk pregnant women in Guangzhou.Methods 2 475 cases pregnant women with screening high risk were operated amniocen-tesis or cordocentesis from January 2010 to September 2012,then amniotic fluids and cord bloods were cultured and the cell were collected for chromosome preparation,G banding,karyotype analysis.We completed follow-up works lastly.Results 38 cases were detected chromosomal abnormality(including 12 cases Down′s syndrome,9 cases sex chromosome abnormality,7 cases transloca-tion,5 cases Edwards′syndrome,2 cases inversion,2 cases deletion,1 cases triploid),the abnormal rate was 1.54%.132 cases were detected chromosomal polymorphism(60 cases 1,9,16qh+ ,30 cases inv(9),25 cases D/Gs+ ,17 cases Y polymorphism).Research on prenatal diagnosis indications,there were 449 cases advanced age,668 cases Down′s screening with high risk,158 cases with ab-normal B ultrasound screening,38 cases with adverse pregnancy history.Conclusion The highest percentage abnormal karyotype is Down′s syndrome.Down′s screening high risk is the main reason for prenatal diagnosis.It is very important to do prenatal diagnos-tic and system B ultrasound for the high-risk pregnant women.

Population intervention of thalassemia relying on family planning service system / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To set up thalassemia population intervention model in order to decrease the birth of thalassemia major, relying on population and family planning service system.</p><p><b>METHODS</b>Pregnant women and their husbands were educated about thalassemia, and participated in screening and prenatal diagnosis if the couple were carriers of thalassemia in the areas of Huangpu, Panyu, Zengcheng and Tianhe districts of Guangzhou.</p><p><b>RESULTS</b>The network of thalassemia intervention mainly dependent on family planning service system was set up in these regions. A total of 10 695 families participated in thalassemia screening and 16 thalassemia major fetuses were diagnosed in the last two years. No one was thalassemia major in the 8360 newborn.</p><p><b>CONCLUSION</b>Thalassemia population intervention model was set up relying on family planning service system and it significantly decreased the birth of thalassemia major.</p>