Chromosome Abnormal Fetal Ultrasound Index Analysis

Objective To assess the relationship between ultrasound findings and fetalchromosome abnormalities.Methods （1）Amniocentesis and cordocentesis were performed on pregnantwomen respectively with indications for prenatal diagnosis，in order to detectkaryotype of the fetus during second trimester and late pregnancy．The detection rateof trisomy21syndrome was compared in pregnant women of differentindications．Relationship between the ultrasonographic abnormalities and trisomy21syndrome was analyzed．（2）The ultrasound findings as trisomy18by karyotypingwere evaluated.（3）The ultrasound findings as trisomy13by karyotyping wereevaluated.Results （1）In chromosomal karyotypes analysis of pregnant women withamniocentesis，35trisomy21syndrome were detected．There were11pregnantwomen with ultrasonographic abnormalities，16with the Down syndrome high riskand7with advanced age．（2）Sixteen of20trisomy18syndrome had at least twodeteceted abnormalities. Fetal cardiac anomalies were the most common findingsfollowed by abnormal hand posturing. Other common sonographic findings includedchoroid plexus cysts, omphalocele, Dandy-Walker syndrome, cleft lip, esophagealatresia, micrognathia, club foot, diaphragmatic hernia, single umbilical artery.（3）Within pregnant women of chromosomal karyotypes analysis by amniocentesis，6trisomy13syndrome were detected．Conclusion During the second and third trimesters，ultrasonography has greatvalue，but still has limits in screening for trisomy21syndrome．The evaluation ofultrasound findings is effective for prenatal screening in the fetus with trisomy18and13during the second and third trimester.