| Objective:To investigate the application value of non-invasive prenatal testing(NIPT)combined with alpha fetoprotein(AFP)in fetal structural dysplasia,adverse pregnancy outcome and fetal genetic diseases.Methods:To collecte 5,500 cases of pregnant women with a single live fetus who were admitted to the prenatal diagnosis center of XXX enegral hospital and XXX maternal and child health hospital for 15~20~+66 weeks from January 2017 to January2020.And all of them received informed consent for NIPT and AFP.500 cases of NIPT high-risk person according to the National Institute of Medical Genetics and Genomics in 2016(ACMG)update about fetal chromosomal aneuploid the consensus of noninvasive prenatal screening make prenatal diagnosis,directly,because its for common chromosome aneuploidy abnormality with the fetus screening value is settled,so don’t do further discussion in this study.A total of 5000 patients with low risk of NIPT were included in the study.According to the detection results of AFP,they were divided into two groups:group A:820 patients with AFP≥2.5mom and low risk of NIPT;group B:4180 patients with AFP<2.5mom and low risk of NIPT.For pregnant women in group A and B,to conduct systematic prenatal ultrasound examination and perform further interventional prenatal diagnosis for pregnant women with signs of prenatal diagnosis,and follow up pregnancy outcomes.Statistical analysis dysplasia fetal structure of group A and B including neural tube defects,digestive system malformation,urinary system dysplasia,edema or neck hygroma,abdominal deformity and adverse pregnancy outcomes,including fetal intrauterine growth restriction(FGR),fetal death in utero,abortion,preeclampsia,oligohydramnios,premature delivery and the occurrence of fetal genetic diseases.Results:750 cases were followed up in group A and 4050 cases in group B,a total of 4800 cases were followed up,and 200 cases were lost to follow-up.(1)The incidence of fetal structural dysplasia(neural tube defect,digestive system malformation,urinary system dysplasia,edema or cervical hydrocystic tumor,abdominal structure malformation)in group A was 18.13%(p<0.05)higher than that in group B(7.73%).(2)The incidence of adverse pregnancy outcome(FGR,fetal death in utero,abortion,preeclampsia,oligohydramnios,premature delivery)in group A was 22.13%(p<0.05)higher than that in group B(8.62%).(3)There were A total of97 patients in group A who underwent prenatal diagnosis of amniocentesis,and 29patients had abnormal results.Conclusion:Based on the current sample size,this stady can draw the following conclusions:1.Combined application of NIPT and AFP in prenatal screening,when the concentration of AFP in maternal serum increases,it has certain predictive value for fetal neural tube defects,digestive system malformation,urinary system dysplasia,edema or cervical hydrocystic tumor,gastroschism and omphalocele.When elevated AFP is detected,systematic prenatal ultrasound examination or increased frequency of ultrasound examination should be performed to monitor fetal growth and development.2.Combined application of NIPT and AFP in prenatal screening.When the concentration of AFP in maternal serum increases,it has certain predictive value for adverse pregnancy outcomes such as FGR,fetal death in utero,abortion,preeclampsia,oligohydramnios,premature delivery,so as to strengthen the management of pregnant3.women in the middle and third trimester.For the possible adverse pregnancy outcomes,the cause and risk factors should be removed in time to reduce the occurrence of adverse pregnancy outcome.4.NIPT and AFP joint used in prenatal screening,screening for fetal common in addition to being able to effectively 21 three body syndrome,18 three body syndrome,13 three body syndrome and sex chromosome aneuploidy abnormality,when maternal serum AFP exceptions can be found NIPT screening beyond the range of the other hereditary disease,for NIPT screening has a supplementary role. |