Ultrasound soft markers in screening for fetal chromosomal abnormality during first-trimester / 中华围产医学杂志

ABSTRACT

Objective To investigate the clinical values of multiple ultrasound soft markers in screening for fetal chromosomal abnormality during first-trimester.Methods Two thousand seven hundred and eighty-nine nulliparas in Department of Obstetrics,the First Affiliated Hospital of Jinan University during early pregnancy (11-13+6 gestational weeks) were selected for this study.Fetalnuchal translucency (NT),facial angle (FA),ductus venosus (DV),fetal heart rate (FHR),tricuspid reverse (TR),nasal bone (NB) and fetal structures were scanned and measured.Risk calculation software (Astraia) was used to calculate the chromosomal abnormal risk (cut-off line＞1/300) based on ultrasound records.The chorionic villi or amniotic fluid of high risk patients was collected with informed consent for karyotype analysis (prenatal diagnosis).All patients were followed up until six months after delivery.Chi-square test or Fisher exact test was used to compare the difference.Results One hundred and seven cases were high-risk of trisomy 21 among which 96 cases accepted invasive prenatal diagnosis.Sixteen chromosomal anomaly and six trisomy 21 cases were diagnosed out the 96 fetuses.Among 2789 cases,four were high-risk of trisomy 21 according to ultrasound screening.Six cases were diagnosed as trisomy 21.The false positive rate of ultrasound screening was 3.6％(101/2783).There were 196 cases whose NT ≥2.5 mm,in which 66 cases were high risk of chromosomal abnormality,and 16 fetal chromosomal abnormalities were diagnosed after chorionic villus sampling.The invasive procedure rate was 2.3％ (66/2789).Totally,186 pregnant women were older than 35 years,among which 32 cases were high risk.There was no significantly difference on the of rate fetal chromosomal abnormality between the groups of age≥ 35 pregnant women and the general population (P=0.055).But 29.9％ (32/107) high risk cases were detected in the group of age≥35.Five of thirteen fetal malformations cases were associated with abnormal karyotype.Conclusions Multiple ultrasound soft markers screening during early pregnancy could increase the diagnosis rate of chromosomal abnormality and decrease the false positive rate,false negative rate and invasive procedure rate.Early ultrasound screening might be effective in not only identifying chromosomal abnormality,but also diagnosing severe structure deformity of fetus.