Perinatal Outcome And Prognosis Analysis Of 2928 Cases Of Fetal Deformity

Objective:The aim of this study is to investigate the prenatal ultrasound diagnosis,genetic te-sting pregnancy outcome and prognosis of live births of different types of fetal deformi-ty,and explore the application of Multidisciplinary management mode,and provide a b-asis for prenatal counseling and clinical guidance of fetal deformity.Methods:2928 cases were collected from January 2012 to December 2017 of the pregnant women who visit the genetic clinic of Fujian Maternal and Child Health care Hospital f-or consultation and multidisciplinary consultation management for their fetal deformity.Based on the organ system,the cases of fetal deformity were divided into nine groups:c-entral nervous system,cardiovascular system,urinary system,digestive system,skeletal system,respiratory system,facial,non-immune edema,body mass malformation,based on the number of organs involved,the cases were divided into two groups:single defor-mity and multiple deformities.A multidisciplinary team composed of genetic physician,obstetricians,radiologist,pediatricians,pediatric surgeons was available for discussing a-nd forming written comments,after discussion,prenatal counseling and joint guidance w-ere given to the 2928 pregnant women after discussion.Follow-up was made through m-edical record tracking and telephone communication.Record the outcomes of the pregn-ancy,related genetic tests,images of fetal and neonatal ultrasound reexamination,treat-ments of the abnormalities,development of the newborn,etc.Chi-square test,linear regression analysis,and binary Logistics regression analysis were conducted with SPSS19.0 statistical software.Results:1.Classification of fetal deformity:a total of 2928 cases of fetal deformity were listed in order of central nervous system malformation,cardiovascular system malforma-tion,urinary system malformation,facial deformity,fetal edema,digestive system malfor-mation skeletal system malformation,respiratory system malformation and body surfac-e mass.2.Gestational age of fetal deformity diagnosed:the 2622 cases of fetal deformity were diagnosed at a mean?25.52±5.28?of gestational weeks.Fetal deformities found during pregnancy 11 to 13⁺⁶ weeks,14 to 17⁺⁶ weeks,18 to 23⁺⁶ weeks,24 to 27⁺66 wee-ks,28 to 31⁺⁶ weeks,no less than 32 weeks,account for 3.42%?100 in 2928?,2.42%?71in 2928?,33.50%?981 in 2928?,29.85%?874 in 2928?,13.46%?394 in 2928?,and 17.35%?508 in 2928?,respectively.63.35%?1855 in 2928?of the fetal deformity was found d-uring pregnancy 18 to 27⁺⁶ weeks.During pregnancy 11 to 13⁺⁶ weeks,fetal edema,seve-re neural tube malformation,nuchal cystic hygrama,severe cardiovascular malformatio-n,omphalocele,limb absence and cloaca ectropion were found more frequently.During pregnancy no less than 28 weeks,lateral ventricle enlargement,posterior fossa pool enl-argement,hydrocephalus,corpus callosum dysplasia,intracranial cyst,fetal edema,ali-mentary canal atresia,tetralogy of fallot,endocardial pad defect,polycystic kidney,hydr-onephrosis,osteodysplasia,diaphragmatic hernia,and cleft lip were found more freque-ntly.3.Genetic test of the fetus:genetic test was performed in 612 cases?20.90%,612in 2928?of fetal deformity,and 169 cases?27.61%,169 in 612?were diagnosed as abn-ormal chromosome.The abnormal detection rates of nuchal cystic hygrama,nervous sys-tem malformation,cardiovascular system malformation,digestive system malformation and fetal edema were higher,which were 52.94%,31.12,30.36%,30.00%and 26.47%,respectively.When the number of organs involved was 1,2,3 or more,the rate of chro-mosomal abnormality rate was 20.95%?88 in 420?,35.59%?42 in 118?,52.70%?39/74?,showing a positive correlation?correlation coefficient was 0.9981,P tend<0.01?.4.Influence factors of fetal pregnancy outcome and neonatal prognosis:multiplemalformations?OR=4.564,95%CI:3.246⁶.419?,single pregnancy?OR=3.107,95%CI:1.799⁵.365?,cardiovascular system malformation as the main malformation?OR=1.522,95%CI:1.225¹.891?were dangerous factors of fetal termination.Multiple malform-ations?OR=8.464,95%CI:4.152¹7.254?,cardiovascular system malformation as the main malformation?OR=1.382,95%CI:0.886².153?were dangerous factors of poor prognosis of newborn.5.Fetal pregnancy outcome and neonatal prognosis:of the 2928 cases,2658 were followed up,the follow^up rate was 90.78%,of which the induced labor rate was 75.80%?2015 in 2658?,and 75.43%?485 in 643?of the newborns have a good prognosis.The induced labor rate was listed in order of facial deformity 90.43%?189 in 209?,skeletal s-ystem malformation 90.32%?140 in 155?,fetal edema87.76%?172 in 196?,cardiovascul-ar system malformation 81.64%?587 in 719?,body surface mass70.59%?36 in 51?,cent-ral nervous system malformation 69.15%?538 in 778?,urinary system malformation 66.39%?162 in 244?,respiratory system malformation 62.71%?74 in 118?,digestive system malformation 62.23%?117 in 188?.The favorable prognosis rate of the newborns was li-sted in order of unilateral renal lesion 100.00%?33 in 33?,cleft lip and palate100.00%?18 in 18?,lung cystic adenoma 100.00%?16 in 16?,strephenopodia100.00%?8 in 8?,is-olated lung 92.86%?13 in 14?,meconium peritonitis 92.31%?12 in 13?,posterior fossa pool enlargement92.11%?35 in 38?,intracranial cyst 89.29%?25 in 28?,hydronephrosis88.89%?24 in 27?,simple congenital heart disease 88.50%?77 in 87?,abdominal cavity mass 84.21%?16 in 19?,corpus callosum dysplasia 81.82%?9 in 11?,nuchal cystic hyg-rama81.82%?9 in 11?,lateral ventricle enlargement68.75%?55 in 80?,alimentary canal atresia 68.00%?17 in 25?,non^fatal osteodysplasia 60.00%?3 in 5?,umbilical hernia 44.44%?4 in 9?,omphalocele 40.00%?2 in 5?,complex congenital heart diseas 35.56%?16 in 45?,fetal edema 35.29%?6 in 17?,gastroschisis 33.33%?1 in 3?,bilateral nephropa-thy 16.67%?1 in 6?,hydrocephalus 12.58%?1 in 8?.3 cases of Dandy-Walker deformity and 1 case of fatal osteodysplasia continued pregnancy,all had poor prognosis.Conclusions:1.Prenatal ultrasound is the most important method to diagnose fetal deformity.18to 27⁺66 weeks is the best gestational weeks for ultrasound screening of fetal malformati-on.Ultrasound screening during pregnancy 11to13⁺66 weeks is an effective means to find out severe fetal structural malformations.Ultrasound screening during pregnancy no less than 28 weeks can reveal the delayed lesions that occur in the late pregnancy.Three dim-ensional ultrasound in different gestational period through the trimester comprehensive detection,can effectively detect fetal malformation.2.The higher the number of fetal structural malformations involved,the higher the probability of fetal chromosomal abnormalities.Hence,Interventional prenatal diagnosis is recommended infetus with structural malformations,especially multiple malformatio-ns.3.The fetuses of neural tube malformations,Dandy-Walker syndrome,severe hyd-rocephalus,bilateral renal lesions,fatal osteodysplasia had poor prognosis and should b-e terminated.The fetuses of unilateral renal lesion,lung cystic adenoma,strephenopodia,subependymal cyst,choroid plexus cyst,isolated lung,meconium peritonitis,simple co-ngenital heart disease,abdominal mass,corpus callosum dysplasia,body surface mass,alimentary canal atresia had a good prognosis after excluding chromosomal abnormalit-ies and other malformations and can continue pregnancy.The prognosis of complex con-genital heart disease,fetal edema,diaphragmatic hernia,umbilical hernia and gastrosch-isis varies greatly,which requires individualized analysis and careful decision to termin-ate pregnancy.The prognosis of the fetus with lateral ventricle enlargement,posterior fo-ssa pool enlargement,and hydronephrosis is related to the severity of the lesion,and ha-ve a high rate of regression.,the pregnancy can be continued under close monitoring.4.The prenatal multidisciplinary consultation management mode optimizes the tr-eatment process for pregnant women,provides comprehensive evaluation and recomm-endations for the treatment of the fetus during pregnancy,childbirth and neonatal period,and follows up the disease outcome,which can improve the diagnosis and treatment ra-te of structural malformation and improve the prognosis.