The Value Of First-trimester Ultrasound Screening And Multiple Indications In The Diagnosis Of Fetal Chromosomal Abnormalities

Objective:To explore the significance of prenatal diagnosis of fetal chromosomal abnormalities by using the first-trimester ultrasound screening combined with other prenatal puncture indications,to investigate the clinical value of prenatal diagnosis of fetal chromosomal abnormalities by using the first-trimester ultrasound screening and so as to provide practical reference for clinical diagnosis.Methods:A retrospective study of 623 pregnant women who met the criteria for inclusion and exclusion of amniocentesis at the prenatal diagnosis center of Longgang District Maternal&Child Healthcare Hospital from October 2015 to January 2018.Methods:(1)The detection rate of fetal chromosomal abnormalities in the four prenatal puncture indications were compared.(2)The types and quantities of the ultrasound soft markers and the relationship between the ultrasound soft markers and the corresponding karyotypes were analyzed.(3)The detection rate of fetal chromosomal abnormalities between the first-trimester ultrasound screening combined with other prenatal puncture indications and the individual prenatal puncture indications were compared.(4)The pregnancy outcomes of fetus with normal chromosome but with positive first-trimester ultrasound screening result were followed up.Results:(1)In this study,the prenatal diagnosis rate of fetal chromosomal abnormalities was 10.11%,and by which 21-trisomy was the highest(25/63)among these chromosomal abnormalities.(2)Among the prenatal puncture indications,the detection rates in the group of advanced age,the high-risk group of serological screening for chromosomal,the positive group of first-trimester ultrasound screening,the high risk group of NIPT were 9.75%,6.61%and 34.48%,50.85%.The detection rate of fetal chromosomal abnormality in the positive group of first-trimester ultrasound screening was higher than that of advanced age group and high risk group of serological screening for chromosomal,(P<0.05).(3)There were 20 cases with positive first-trimester ultrasound screening result and fetus chromosomal abnormalities among the 623 cases.The sensitivity of fetuses with early fetal ultrasound screening was 31.74%,the specificity was 93.24%,the positive predictive value was 34.48%and the positive likelihood ratio was 4.69.The ultrasonic manifestation showed 11 cases with single NT thickening,3 cases with single nasal bone abnormality,4 cases with other simple soft marker,5 cases with two soft markers.(4)The detection rates of fetal chromosomal abnormalities in first-trimester ultrasound screening combined with advanced maternal age group,The high risk serological screening for chromosomal group,the high risk of NIPT in fetus group respectively were 50%,31.81%,100%.The difference between detection rate of fetal chromosomal abnormalities of the first-trimester ultrasound screening combined with advanced maternal age、serological screening for chromosomal high risk and that individual prenatal puncture indications only was statistically significant(P<0.05).(5)There are 24 cases with normal chromosome but with positive first-trimester ultrasound screening result.Among them,21 pregnant women who had negative ultrasound screening or no new onset of abnormal pregnancy had good pregnancy outcomes,There are three cases was positive in the second-trimester ultrasound screening,the postnatal ultrasound results were consistent with prenatal diagnosis in two cases,while one case was continued pregnancy.Conclusion:(1)In this study,the prenatal diagnosis rate of fetal chromosomal abnormalities was 10.11%,and by which 21-trisomy was the highest among these chromosomal abnormalities.(2)The detection rate of fetal chromosomal abnormality in the high risk group of NIPT was the highest among the prenatal puncture indications.(3)There was great significance in the detection of fetal chromosomal abnormalities by using the first-trimester ultrasound screening,especially for the cases with NT thickened and other ultrasonic soft marker abnormalities.(4)The first-trimester ultrasound screening combined with advanced maternal age,high risk of serological screening for chromosomal combined could increase the positive rate of prenatal diagnosis.It was highly prompted that the fetus had chromosomal abnormalities in the case with positive first-trimester ultrasound screening result and high risk of NIPT.(5)Some new fetal structural abnormalities might be found among the fetus with normal chromosome but with positive first-trimester ultrasound screening results.