Retrospective Studies On Correlation Of Combined Ultrasonic Soft Markers And Maternal Serology Screening With Fetal Chromosomal Abnormalities After Amniocentesis

Objective The study on relation of combined ultrasonic soft markersof fetuses in various types and numbers and maternal blood serology duringthe first trimester or the second trimester of pregnancy with fetalchromosomal abnormalities is conducive to better direction of geneticcounseling and prenatal chromosome diagnosis of aforesaid fetuses andfurther to the improvement of positive rate of the invasive procedures andbirth rate reduction of fetuses with abnormal chromosome.Method High-resolution color ultrasound inspection is conducted forall women in early and middle pregnancy from sep2011to sep2013inchongqing Health Center for Women and Children. Such inspection isconducted for the detection of ultrasonic manifestations associated withchromosomal abnormalities. Pregnant women of abnormal ultrasonic softmarkers or at high risk value are inspected of chromosome in method ofamniocentesis or umbilical cord blood centesis. The statistics of correlation between various ultrasonic soft markers and chromosomal abnormalities, aswell as the regional differences of various ultrasonic soft markers, areconducted before eventually developing the risk assessment software. Weprovide pregnant women with appropriate prenatal counseling andnecessary invasive inspection according to the amount and type of structureabnormalities to improve the positive rate.Results39560pregnant women and41790fetuses, among whichare2591twins, were subject to the screening during the study period. Allare nonselective cases.2591cases were detected of positive ultrasonic softmarkers (6.2%), among which1606were detected of single ultrasonic softmarkers (62.1%),681cases (26.3%) of two or more ultrasonic soft markers,and300cases of combined abnormal structure combination of single ormultiple soft marker (11.6%); Maternal serum screening with high risk of410cases including88cases for chromosome abnormalities (21.4%). fetuschromosome inspection was conducted for4305cases detected of positivesoft markers or high-risk maternal serum, and the chromosome inspectionrate was10.9%.131cases were detected of abnormal chromosome and thechromosome abnormality rate was3.0%. In this study, basically consistentwith that of the developed coastal area. And the detection rate is higherthan that of other areas in China. Among all cases with chromosomalabnormalities in Chongqing,54suffer from21-trisomy, accounting for40%of all chromosomal abnormalities,45from balanced translocation, ranking the second,17from45XO, and15from other chromosomeabnormalities.Conclusion There exists close relation between tiny structuremalformation of fetus combined with serological screening for high riskand aneuploid chromosome disease. And chromosome abnormality upon asingle ultrasound soft mark is of quite low incidence while the incidenceincreases upon two or more soft markers. The positive rate was Raise byultrasonic soft markers with serological screening...