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Premium member Presentation Transcript CONGENITAL ABNORMALITIES : CONGENITAL ABNORMALITIES BY ROSEMARY PALMER RN,RM,BSc Hons(Sport Science & Administration), ADM DEFINITION : DEFINITION AN ABNORMALITY IN BODY STRUCTURE OR FUNCTION THAT IS PRESENT AT BIRTH, RANGING FROM A MINOR NON LIFE THREATENING CONDITION SEEN AT BIRTH TO METABOLIC DISORDERS NOT SEEN IMMEDIATELY AND LIFE THREATENING. CAUSES & PREDISPOSING FACTORS : CAUSES & PREDISPOSING FACTORS CHROMOSOMAL DEFECTS EG DOWNS SYNDROME (too many) OR TURNERS SYNDROME ( too few) WHERE WHOLE CHROMOSOMES DO NOT REPLICATE OR TRANSFER CORRECTLY TO THE FOETUS. GENETIC DEFECTS: SINGLE GENES ARE FAULTY e.g. the metabolic disorders. TERATOGENIC SUBSTANCES: THESE MAINLY NEED TO BE PRESENT IN THE 1ST TRIMESTER TO CAUSE A CONGENITAL ABNORMALITY TERATOGENS : TERATOGENS CHEMICALS/ HERBS/MEDICATIONS OR ENVIRONMENTAL POLLUNANTS TAKEN IN BY THE MOTHER THAT INTERFER WITH FOETAL MORPHOGENESIS e.g. HIGH VITAMIN A DOSEAGE ASSOCIATED WITH INCREASED BIRTH DEFECTS. WARFRIN –SKELETAL ABNORMALITIES ANTICONVULSANTS – MULTI DEFECTS CONT. : CONT. DIAZEPAM – CLEFT PALATE ALCOHOL – FOETAL ALCOHOL SYNDROME WITH FACIAL DEFECTS, MENTAL/ PHYSICAL RETARDATION CAFFIENE – EXCESSIVE USE = MISCARRAIGES OR PRETERM LABOUR PETROL SNIFFING – RETARDED NEURODEVELOPMENT STOKRIN – NEURAL TUBE DEFECTS CONT. : CONT. THE LIST OF TERATOGENS IS HUGE :e.g BENZINE, MERCURY, MANAGANESE SO ITS NOT JUST MEDICATIONS THAT COULD CAUSE CONGENITAL ABNORMALITIES BUT ENVIRONMENTAL FACTORS AS WELL. Slide 7: INFECTIONS – THESE CAN ALSO BE CLASSED AS TERATOGENS BECAUSE THEY ENTER THE FOETAL ENVIRONMENT AND INTERFERE WITH MORPHOGENESIS IN THE 1ST TRIMESTER. e.g. rubella, chickenpox, CMV, HSV, syphilis, toxoplasmosis - TORCHS MULTIFACTORIAL – as the name suggests there are a number of components that could give rise to a congenital abnormality e.g. neural tube defects from medication AND lack of folic acid. Slide 8: DIABETES – it is well documented that uncontrolled maternal diabetes causes congenital abnormalities. Diabetes has been covered in a previous presentation. IDIOPATHIC – there seems to be no reason for the occurrence of the abnormality. MATERNAL AGE – the older a mother becomes the older her ova are and the more chance of an abnormality occuring. Downs syndrome occurs 1.200 > 35yr olds as opposed to 1:600 normally. Slide 9: NUTRITION: an example of the effect of poor nutrition on the occurrence of congenital abnormalities is shown with FOLIC ACID. A lack of folic acid at fertilization increases the risk of neural tube defects by up to 50%. Too much Vitamin A is associated with higher birth defects. Taking standard dosages of multivits daily helps prevent facial defects BUT people often add extra vitamins to these thinking they are doing better but they are not. Slide 10: FOETAL COMPRESSION FROM OLIGOHYDRAMNIOS - this can cause deformity rather than congenital abnormality e.g. club foot. ( MALFORMATION = FAILURE OF DEVELOPMENT IN EARLY PREGNANCY) (DEFORMATION = PRESSURE ON PART OF THE BODY DURING LATER PREGNANCY) ANTICIPATION : ANTICIPATION DURING ANC WHAT MIGHT ALERT YOU TO A POSSIBLE DEFECT? FAMILY HISTORY MATERNAL ILLNESS IN 1ST TRIMESTER DIABETES MATERNAL AGE > 35 ESPECIALLY PRIMI. MEDICATION/ ALCOHOL/ DRUG USAGE POLY OR OLIGOHYDRAMNIOS Slide 12: TWINS PERSISENT BREECH/ABNORMAL LIE LOW BIRTH WEIGHT WITHOUT OBVIOUS CAUSE ABNORMAL PALPATION Slide 13: FOETAL COMPRESSION FROM OLIGOHYDRAMNIOS - this can cause deformity rather than congenital abnormality e.g. club foot. ( MALFORMATION = FAILURE OF DEVELOPMENT IN EARLY PREGNANCY) (DEFORMATION = PRESSURE ON PART OF THE BODY DURING LATER PREGNANCY) Slide 14: REFER FOR CHANGE OF MEDICATION AS INDICATED. GIVE MULTIVITS & FOLIC ACID ULTRASOUND OPERATOR SHOULD INDICATE MEMBRANE SEPARATION IN TWINS. INKOSI ALBERT HOSPITAL HAS GENETIC CLINIC THAT DR. CAN REFER PATIENT TO AS NECESSARY. MANAGEMENT : MANAGEMENT PRECONCEPTUAL: FOLIC ACID 0.4MG DAILY IMPROVE NUTRITION STOP SMOKING/ ALCOHOL CONTROL DIABETES CHANGE MEDICATIONS e.g. Regime 1a to 1b, anticonvulsants, oral diabetic drugs. ANC: EDUCATE MOTHERS –DIET, INFECTIONS, TERATOGENS. IF YOU SUSPECT AN ABNORMALITY e.g. PATIENT HAS POLYHYDRAMNIOS/ OLIGOHYDRAMNIOS REFER. Slide 16: AMNIOCENTISIS A DIAGNOSTIC OPTION AT IALCH PLUS OTHER TESTS. ETHICAL ISSUES RE TERMINATION OF THE PREGNANCY IF ABNORMALITY IS DETECTED. Slide 17: LABOUR: be alert to query any abnormal palpation, history etc. Don’t be shy to ask the doctor what could be the problem. BIGGEST DEMAND IS WHAT TO DO AFTER DELIVERY especially if baby is obviously severely abnormal. Ethical issues of resus/ no resus INFORMING PARENTS. Nurses often push this onto the doctor and they are not particularly good at it!! Talk to the doctor, get the information needed then sit down with the parents. They must be fully informed and kept in the loop. Slide 18: POST DELIVERY NEONATAL CHECK: we all check babies after delivery for defects e.g. hips, abdomen, we listen to the heart, check reflexes. These are all for congenital defects. POST NATAL: metabolic disorders do not manifest early on and the mother can go home in 6 hours after a normal delivery. EDUCATE HER ON NORMAL DEVELOPMENT, WHAT VOMITING MAY MEAN, WHAT ARE MILESTONES.e.g. a baby with phenylketonuria slowly becomes mentally retarded from buildup of metabolites Slide 19: The mother might not know her baby is not developing correctly. ENCOURAGE REGULAR BABY CHECK UPS AND USE OF RTHC. EARLY DETECTION CAN LEAD TO EARLY CORRECTION SAVING HEART ACHE TO THE PARENTS AND EXPENSE TO THE HEALTH SYSTEM. CASE PRESENTATION : CASE PRESENTATION MISS TN IS A 31 YEAR OLD G1 P0. PRESENTED AT ANC IN ‘TOTI IN JUNE AT 6/12 PREGNANT. Rh pos WR NR ARD neg HISTORY OF TWINS IN FAMILY OTHERWISE NAD NON SMOKER/ DRINKER WORKING AND IN STABLE RELATIONSHIP. Slide 21: ATTENDED THIS CLINIC x2 THEN WENT HOME AND ATTENDED A CLINIC IN UZUMBE. THEY DIAGNOSED BREECH AND REFERRED HER TO PORT SHEPSTONE HOSPITAL FOR FURTHER MANAGEMENT @ 8 MONTHS. AN ULTRASOUND REVEALED TWINS BOTH BREECH AND ELECTIVE C/S WAS ARRANGED. Slide 22: MISS TN WAS ADMITTED …/09/09 FOR ELECTIVE CAESARIAN SECTION : INDICATION PRIMIGRAVIDA WITH BREECH TWINS. UNDER SPINAL ANAESTHETIC. THE SURGEONS ENCOUNTERED PROBLEMS IN TRYING TO EXTRACT THE FIRST BREECH TWIN AND CALLED FOR SENOIR ASSISTANCE. IT WAS REVEALED THAT THESE WERE CONJOINED TWINS. EXTRACTED SAFELY WITH APGARS OF 6/10 & 8/10. SHOWN WITH MOTHERS PERMISSION : SHOWN WITH MOTHERS PERMISSION Slide 25: WEIGHT 5.2 KG COMBINED. BREATHING WAS SYNCHRONOUS, BLOOD GASES FROM BOTH WAS THE SAME. NOTE THE PRESENCE OF ONLY 1 CORD. SUCKING REFLEXES PRESENT IN BOTH, LIMBS PRESENT AND FUNCTIONING. BOTH HAD INDEPENDENT FEMALE GENITALIA AND URINE WAS PASSED BY BOTH. Slide 26: TWINS WERE TRANSFERRED TO INKOSI ALBERT HOSPITAL FOR FURTHER MANAGEMENT. THERE THEY WILL USE MRI, ULTRASOUND, CT SCANS AND ANGIOGRAPHY TO FIND OUT THE EXTENT OF ORGAN SHARING BEFORE ANYTHING CAN BE DONE. THEY APPEAR TO BE OMPHALOPAGUS CONJOINED TWINS: 10% OCCURRENCE. i.e they could SHARE DIAPHRAGM, GUT, LIVER AND BLOOD CIRCULATION GOES THROUGH BOTH. DIAGNOSTIC POINTERS : DIAGNOSTIC POINTERS ULTRASOUND OPERATORS NORMALLY STATE WHETHER THEY CAN SEE SEPARATING MEMBRANE – NOT REPORTED HERE. ? AN INDICATION THAT THERE WAS A PROBLEM FOR FURTHER INVESTIGATION AND TRANSFER OF PATIENT TO LEVEL 3 PRIOR TO SURGERY? FORTUNATELY SHE WAS A PRIMIGRAVIDA WITH BREECH TWINS SO WAS REFERRED TO LEVEL 2. AND SHE HAD AN ELECTIVE C/S THERE ANYWAY. BACK TO MISS TN : BACK TO MISS TN WHAT COULD HAVE BEEN THE CAUSE/ PREDISPOSING FACTORS TO HER HAVING CONJOINED TWINS? WHAT WOULD HAVE ALERTED YOU TO UP REFERRING HER ? Slide 29: REFERENCES: PEP COURSE MATERIAL UNIT 29 www.medicinau.net.au/womenshealth. www.msds.chem.ox.uk/teratogens THANK YOU You do not have the permission to view this presentation. In order to view it, please contact the author of the presentation.