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1、By Obst. & Gyn. Dep. Mansoura Faculty of Medicine Mansoura Integrated Fertility Center (MIFC),Prof. Dr. Mohamed Emam,Ultrasonic Diagnosis of Congenital Foetal Defects The Role Of Obstetrician,Introduction,Incidence of major cong. Anomalies (CFA): 2.5% of total births (1/3 neural tube & conge.Ht1/3).
2、 ICSI 5-6 % of total births. Consanguinity 4%. 20% of S.B. & early neonatal death 15% of infant death in first year (Now ranked second after birth injuries),Introduction cont,Techniques for prenatal diagnosis of CFA: Radiology (plain amniography-fetography) Ultrasonic. Fetoscopy & ultrasonic guided
3、fetoscopy. Biochemical markers (triple test) MSAFP, unconj, E3 & HCG. Amniocentesis. Chorionic villous biopsy. Cordocentesis. Molecular genetics.,During the antenatal care visits, the obstetrician is frequently faced by a common question regarding the presence or absence of C.F.A.Unfortunately many
4、of the general obstetricians are not aware of the scientific background regarding the diagnosis of C.F.A.,Introduction cont,Scientific Background of CFA,The obstetricians should be aware of: 1. Clinical background. 2. Principles of Teratogenesis 3. Decision making after diagnosis. 4. At risk pregnan
5、cies. 5. Role of ultrasonic.,The obstetricians should be aware of: 6. Levels of ultrasonic scans. 7. Anomalies detected by sonar, DD. 8. Interpretation. 9. Report. 10. Prevention of cong anomalies.,Scientific Background of CFA cont,1. Clinical Background,Causes of Congenital Fetal Anomalies,Single g
6、ene disorders 20% Chromosomal 5% Environmental 10% Drugs 3% Infections 3% Irradiation 1% Others 3% Multifactorial 65%,Parental Consanguinity,Direct leading question is needed. Frequency of: Autosomal recessive disorders. Multifactorial malformations. Need only: detailed scanning for malformations. N
7、o indication for : foetal chromosomal, DNA or biochemical analysis,Alpha Fetoptn,Oncofetal pl. ptn Increased maternal serum Error Idiopathic Wrong gest. Age Multiple pregnancy Hydatiform mole IUFD Anencephaly spina bifida Omphalocle Oesphageal atresia,2. Principles of Teratogenesis,Principles of Ter
8、atogenesis,Susceptibility of the conceptus:-1.Geno type of the conceptus.2. Developmental stage at time of exposure ( zygote - embryo - fetus ).3. Teratogenic agents.,Principles of Teratogenesis cont,Developmental stage: Zygote (18 21 day) post conception (pc)(all or non rule)Embryonic (3 - 9w) p.c.
9、(organogenesis) Fetal (after 9w) (Subtle functional disorder, IUGR, CNS abnormalities “continue all prenatal + postnatal life”),The final manifestations: No effect to lethal (all - none) . Malformation ( poor formation ). Deformation (Unusual forces on normal). Disruption (Break down) IUGR. Function
10、al.,Principles of Teratogenesis cont,3. Decision Making After Diagnosis,Foetal therapy.,or,Decision about:,Continuation termination of pregnancy.,Decision making After Diagnosis CFA,4. At Risk Pregnancies,At Risk Pregnancies for Increased CFA,History : Mat. Age more than 35ys. Previous child with ma
11、lformation. Prospective parent with malformations. Single gene disorders. Epilepsy. DM (insulin dependent). Repeated miscarriage. Exposure to teratogen. Spina bifida.,At Risk Pregnancies CFA cont,Exam: Hydramnios or oligohydramnios Multiple pregnancies Threatened preterm labour (+ breach) Congenital
12、 anomalies uterus (mech. Effect) Investigations: Increased mat. Alphafetoptr Suspicious findings on routine sonar,5. Role of Ultrasonic,Role of US for Detection CFA,1. In the office: Direct visualization of a structural defects e.g anencephaly. Demonstration of a pathology due to a defect: Dilated s
13、tomach and duodenum (duod. Atrsia). Increased nuchal folds & short femurs (Down syndrome). Ultrasonic markers of chromosomal abnormalities.,2. In the hospital: Ultrasonic - guided to obtain fetal tissues: Amniocentesis. Fetoscopy. Chorionic villous biopsy. Cordocentesis.,Role of US for Detection CFA
14、 cont,US Markers of Chromosomal Abnormalities,(A) Polyhydramnios : Gut atresia (oesph duod jejunal). Neurological (NTD). Neuromuscular (cong. Myotonia). Diaphragmatic hernia.,(B) Oligohydramnios: Foetal urinary tract obstruction Foetal renal failure (bilat. Agenesis cystic dysplasia) IuGR.,US Marker
15、s of Chromosomal Abnormalities cont,(C) Increased nuchal translucency (at 1014 w): Down syndrome. Congenital Ht .defects.,US Markers of Chromosomal Abnormalities cont,Role of TVS for Detection of CFA (before 10w),Advantage: Early diagnosis option for early termination. Disadvantage: Limitation by fo
16、etal position + restricted maneuverability of probe. Normal first trimester embryological development mimic path. In second trimester e.g physiological ant. Wall hernia & omphalocele. Grossly abn. Embryo may appear normal e.g anencephaly .,6. Levels of Ultrasonic Scans,Levels of US for Detection of Foetal Anomalies,1. Screening test (L1) from 18w: Stick to classic sequences=No missing of major anomalies. Number of foetuses. Longit, axis determination. Ht. Beating. Cephalometry & gest. Age. Return to longit. lie (spine). T. Scan (A.C.- all spine femur ) Placental localization. Interpretation.,
