The Analysis Of Intrauterine Phenotype And Prenatal Screening Results Of Edwards Syndrome

Objective: To analyze the clinical data of 63 pregnant women with fetal trisomy 18syndrome(ES)diagnosed by prenatal diagnosis,to explore the prenatal diagnosis indications of ES,and understand the prenatal screening and diagnosis technology currently used in clinical detection of ES fetus,guide the clinical genetic counseling of ES.Methods: A collection of 63 pregnant women who were diagnosed with trisomy 18 through interventional prenatal diagnosis at the General Hospital of Ningxia Medical University and the Prenatal Diagnosis Center of Yinchuan Maternal and Child Health Hospital between March 2014 and December 2020.According to prenatal diagnosis indications,they are divided into four categories: abnormal ultrasound,maternal serum screening(MSS)abnormalities,advanced maternal age(AMA),and non-invasive prenatal testing(NIPT)high-risk.The gestational age and ultrasound at the time of each indication are counted.The distribution of abnormalities(including structural or soft indicators),and follow-up the pregnancy outcome and family reproductive status.Results: All 63 cases completed prenatal diagnosis and confirmed ES and were followed up successfully.1.The age range is 22-45 years old,the average age is 33.2±6.5 years,the gestational week is 15-30 weeks,and the average gestational week is 20+6 weeks(calculation method of gestational week: allow ultrasound to estimate the number of gestational weeks and menopausal weeks for one week,if the number of menopausal weeks is consistent with the ultrasound estimation,the calculation is based on the last menstruation;if it does not match,it is calculated based on the ultrasound);2.The distribution of the four types of prenatal diagnostic indications is 54 cases(85.71%)of ultrasound abnormalities,and advanced maternal age 30 cases(47.62%),25 cases(39.68%)with critical or high risk of prenatal serological screening,23 cases(36.51%)with high risk of NIPT;3.15 cases(23.81%)underwent interventional prenatal diagnosis due to a single indication cases,including 9 cases of ultrasound abnormalities,4 cases of high risk due to serological screening,and 2 cases of advanced maternal age(39 years old and 41 years old);4.(1)Among the ultrasonic abnormalities,there were structural abnormalities and soft index abnormalities,including cardiac abnormalities,limb deformities,facial and cervical abnormalities,and 34 cases(62.96%)craniocerebral abnormalities;(2)18 cases of cardiac malformations were simple ventricular septal defect(52.94%);(3)The ultrasound soft marker can be divided into choroid plexus cyst,hyperamniotic fluid,nasal bone dysplasia and loss,and single umbilical artery.Among them,38 cases(70.37%)of choroid plexus cysts are the most common;5.According to the distribution of different prenatal diagnosis indications,it can be found that there were 9cases at 11-14 weeks,45 cases at 15-20 weeks,7 cases at 21-24 weeks,and 2 cases at ≥ 25 weeks.All cases were diagnosed in the second trimester.The proportions of advanced maternal age pregnancy and non-advanced maternal age were 52.38% and 47.62%respectively;6.Serological screening in the diagnosis of ES fetuses has an important role;7.Fetal karyotype analysis results and pregnancy outcomes: 57 cases of standard type(90.48%),6 cases of mosaic type(9.52%),mosaic ratio 3%-25%,63 cases of 60 cases One case was a singleton pregnancy,and one of the three twins was ES.One case was transferred to the neonatology department by premature cesarean section.After 6 days of rescue treatment,the family gave up treatment and died.Two cases with chimeric ratio of 3% and 8.3% delivered one live infant from pregnancy to full term respectively and were healthy.The rest of pregnancy outcomes were induced labor.Conclusion: Base on the current data the following conclusions can be drawn:1.Most of ES will be accompanied by ultrasound abnormalities,and ultrasound abnormalities are often manifestations of multi-system fetal malformations.Fetal heart malformations are the most common in ultrasound structural abnormalities.Ventricular septal defect accounts for the highest proportion of cardiac malformations,and choroid plexus cysts are the most common in ultrasound soft marker.2.Most ES cases have various indications between 15-20 weeks of gestation,and more and more indications increase with the increase of gestational age,all of which are diagnosed in the second trimester.3.Serological screening during pregnancy is of great significance in the diagnosis of ES fetus.