[Relationship between sonographic markers and fetal chromosome abnormality during 16-18 weeks of pregnancy]

Objective: To analysis of fetal ultrasound soft index positive cases during 16-18 weeks of pregnancy, and to explore the relationship with chromosomal abnormalities in order to increase the positive rate of invasive prenatal diagnosis and reduce the rate of missed diagnosis. Methods: A total of 569 cases which were diagnosed with positive soft markers in the department of gynecology and obstetrics of the Second Hospital of Jilin University from Jan.2016 to Jan.2017 were studied by ultrasonography. Twenty-five cases were lost in follow-up and finally 544 cases were included as group A. Those fetuses who combined with other malformations were induced labor. Non-invasive DNA examination was recommended for continued pregnant women, and those pregnant women whose results were high risk underwent the amniotic cavity puncture. When the fetal aneuploidy was confirmed, they chose induced labor. We followed the rest of those patients until postnatal half year. Randomly selected 544 cases during 16-18 weeks of pregnancy without obvious abnormalities into group B, followed up to half a year after birth. Results: In group A, 7 of the 544 cases were combined with other severe malformation in the beginning, among the remaining 537 patients, 273 of them received non-invasive DNA examination. Ten cases were high risk results, all of them underwent the amniotic cavity puncture with the result of chromosome abnormality, and they chose induced labor. Six cases were found other malformation in the second trimester who chose induced labor, and the rest 521 cases followed until the fetuses was born after half year had a favorable prognosis. In group B, 1 cases of severe deformities and 1 cases of haploid fetuses were found in 544 fetuses. The incidence of haploid fetus in group A and group B were 1.8% and 0.2%, respectively, with statistically significant (P<0.05). The incidence of severe malformation in group A and group B were 2.3% and 0.2%, respectively, with statistically significant (P<0.05). Conclusions: During 16-18 weeks of pregnancy, sonographic markers may indicate an increased risk in fetal chromosomal abnormalities. The risk of serious malformation was increased in the fetuses with ultrasonic soft marker positive, but there was no specificity.