| Objective 1.To explore the clinical value of late pregnancy prenatal ultrasound screening for fetal structural abnormalities and ultrasonic soft marks;to study the relationship between fetal structural abnormalities,ultrasound soft markers and chromosomal abnormalities;2.To explore the application value of ultrasound in the diagnosis of fetal facial deformity and the relationship between fetal facial abnormalities and chromosomal abnormalities.Methods 1.5439 cases of pregnant women who were underwent prenatal screening in the Naval General Hospital from March 2015 to December 2016 were systematically screened by multi-section ultrasound screening system.If the one diagnosed as structural abnormalities or soft marks,we recorded their name,age,gestational age,gravidity parity,ultrasound results,whether amniotic fluid puncture,umbilical cord blood puncture or noninvasive DNA check performed and karyotype analysis results,serological screening results,chemical poison contact history,pregnancy medication history,family history of congenital malformation.The types and number of structural abnormalities or soft marks,and their relationship with chromosome abnormality were retrospectively analyzed.2.The retrospective analysis for the type of deformity,the number of cases and their relationship with karyotype was performed on 28 cases of prenatal screening who were diagnosed as facial deformity in the Department of Ultrasonography of the Naval General Hospital from March 2014 to December 2016.Results 1.From 5439 cases of pregnancy,we screened out of the 138 cases of structural abnormalities,and then underwent invasive chromosome examination,including 21 cases with multiple malformations(two or more than two organs malformation),117 cases with solitary malformations including 17 cases of urinary system malformation,40 cases of congenital heart disease,28 cases of abdominal thoracic deformity,11 cases of limb malformation,14 cases of central nervous system malformation and 7 cases with facial deformity.There were 7 cases of trisomy 21,3 cases of chromosome polymorphism and a case of triploid in 117 cases of single malformation.There were 3 cases of trisomy 18 and 4 cases of trisomy 21 in 21 cases with multiple malformations.The rate of chromosome abnormality of structural malformation fetus was significantly higher than that of non structural malformation fetus(P < 0.05),and the difference was statistically significant.The incidence of chromosome abnormality was positively correlated with the number of multiple structural abnormalities.The structure deformity such as single ventricle(OR:8.1,5.2~12.6),single atrium(OR:8.1,5.2~12.6),truncus arteriosus(OR:14.9,1.3~173.5),endocardial cushion defect(OR:11.1,2.3~55),interrupted aortic arch(OR:3.4,0.3 ~ 39.3),spina bifida(OR:3.4,0.3 ~ 39.3),hydrocephalus(OR:4.6,1.0~21.2)microcephaly,with agenesis of corpus callosum (OR:8.1,5.2~12.6),leaflike holoprosencephaly(OR:8.1,5.2~12.6),cleft lip and palate(OR:11.5,3.0~43.4),low ear(OR:8.1,5.2~12.6),a small mandible(OR:8.1,5.2~12.6),short limbs(OR:8.1,5.2~12.6),dysmelia(OR:3.4,0.3~39.3)can increase the risk of chromosomal abnormality.(2)1178 cases of fetal soft marks were detected by prenatal ultrasound,including 1013 cases with single soft mark and 165 cases with multi marks.Single soft marks including 544 cases of echogenic intracardic focus,52 cases of lateral ventricle,139 cases of dilated renal pelvis,50 cases of cisterna magna,15 cases of long bone short,42 cases of bowel echo enhancement,39 cases of choroid plexus cysts,12 cases of orbital hypertelorism,17 cases of single umbilical artery,a case of absence of nasal bone,80 cases of three tricuspid regurgitation,6 cases of NF thickening,9 cases of bowel dilatation and 7 cases of right umbilical vein(intrahepatic type).The detection of chromosome abnormality was significantly lower than that of multiple ultrasound abnormalities(P < 0.05),and the difference was statistically significant.The positive likelihood ratio detection of trisomy 21 soft marks from big to small,the top three are: short or absent nasal bone(12.739),echogenic bowel(7.633),lateral ventriculomegaly(4.237).The detection of trisomy 18 soft marks efficiency from high to low,the top three are: short or absent nasal bone(sensitivity of 66.67 and a positive predictive value of 50),single umbilical artery(sensitivity of 66.67,a positive predictive value of 25),choroid plexus cyst(sensitivity of 66.67,a positive predictive value of 20).(2)Prenatal ultrasound detection of fetal soft marks in 1178 cases,including 1013 cases with single soft mark,165 cases with multiple weak indicators,single soft indexes including 544 cases of echogenic intracardic focus,52 cases of lateral ventricle,139 cases of dilated renal pelvis,50 cases of cisterna magna,15 cases of short femur or humerus length and 42 cases of bowel echo enhancement,40 cases of choroid plexus cysts,12 cases of orbital hypertelorism,17 cases of single umbilical artery,80 cases of three tricuspid regurgitation,6 cases of NF thickening,9 cases of bowel dilatation and 7 cases of right umbilical vein(intrahepatic type).The abnormal rate of chromosome abnormality of fetus with muti ultrasonic soft marks was significantly higher than that with single ultrasonic soft mark(P<0.05),and the difference was statistically significant.2(1)In the study of 7562 cases,28 cases(0.37%)were dignosed as fetal facial malformations.Comparing with the induction of labor specimens or telephone follow-up,ultrasound diagnosis coincidence rate was 100%;(2)In this study,28 cases of fetal facial malformations included cleft palate,micrognathia,low ear no,eye deformity,nasal bone absence and median cleft lip.And then 24 cases underwent chromosomal examination,in which 16 cases were normal(66.7%),4 cases were trisomy 18(16.7%),2 cases were trisomy 21(8.3%),1 case were triploid(4.2%)and 1 case were polymorphic(4.2%).There was a significant difference in the incidence rate of fetal chromosomal abnormality between facial deformity and normal face with high risk factors.Conclusions 1.The rate of chromosome abnormality of structural malformation fetus was significantly higher than that of non structural malformation fetus;The incidence of abnormal karyotype of single structural malformation was lower than that of multiple structural malformations;2.The larger the number of multiple structural abnormalities involved,the greater the incidence of chromosomal abnormalities;3.Structural abnormality such as single ventricle and atrium,truncus arteriosus,endocardial cushion defect,aortic arch,spina bifida,hydrocephalus,microcephaly with agenesis of corpus callosum,a full forebrain,cleft palate,micrognathia,low ear,short limbs,limb abnormalities can increase the risk of chromosomal abnormality;4.With many soft marks the incidence of chromosome abnormality was higher than that of the single soft mark;5.The positive likelihood ratio of soft mark detecting the trisomy 21 from big to small,the top three were: short or absent nasal bone,echogenic bowel,lateral ventriculomegaly;6.The efficiency of soft marks in detecting trisomy 18 from high to low,the top three were: short or absent nasal bone,single umbilical artery,choroid plexus cyst;7.Ultrasound detection of fetal abnormalities plays a role in predicting chromosomal abnormalities;8.Ultrasound plays an important role in the detection of fetal facial malformations.Fetal facial deformities and fetal chromosomal abnormalities are related.Fetuse with facial malformations is necessary to do further examination of chromosome. |
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