[Relationship between the choroid plexus cyst and the aneuploidy]

Objective: Using the method of the ultrasound and the noninvasive DNA to find the relationship between the choroid plexus cyst and the aneuploidy, and to provide the meaningful data for prenatal consultant. Methods: A total of 112 cases, that the gestational age were between 13 and 20 weeks, which were diagnosed with choroid plexus cyst in the Department of Gynecology and Obstetrics of the Second Hospital of Jilin University from January. 2016 to July. 2017 were tested by ultrasonography. They all accepted the noninvasive DNA. At the same time, a total of 100 normal fetuses were randomly involved in the control group by the combination of gestational age and the age of the pregnant woman, all of them had taken the non-invasive DNA examination and followed up until the birth. Those fetuses who combined with other malformations were induced labor in the two groups. If the results of noninvasive DNA indicated the high-risk, invasive examination for karyotype analysis were recommended. If the results were aneuploidy, they chose induced labor. The rest cases followed up until the birth. Results: Five cases of the 112 fetuses in the case group were found with obvious malformation (3 of them were found in the early trimester, 2 of them were found in the middle trimester). The numbers of high risk results of noninvasive DNA were 7, and 5 of them underwent the invasive karyotype analysis. When the aneuploidy had diagnosed definitely, induced labor had been taken. One case was found to be the aneuploidy in the control group, and took the induced labor. One case was diagnosed as right side aortic arch by ultrasound in the control group, with a good prognosis. The other cases were followed up until the birth with a good prognosis. Conclusions: (1)In the early trimester, the fetus with choroid plexus cyst has an increasing risk of aneuploidy. (2)When the maximum diameter of choroid plexus cyst is less than 1 cm and the cyst was single, most of them could disappear in the middle trimester, it has no effect on the fetus. (3)Noninvasive DNA test has a high accuracy, which can improve the positive rate of invasive examination.