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Foetal congenital anomalies in pregnancy

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postgraduate seminar.
presented at Lagos University Teaching Hospital
Idi-Araba, Surulere, Lagos Nigeria

Published in: Health & Medicine
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Foetal congenital anomalies in pregnancy

  1. 1. FOETAL CONGENITAL ANOMALIES IN PREGNANCY DR OKECHUKWU A. UGWU 18/07/2017 21:34 Okechukwu A. Ugwu 1
  2. 2. OUTLINE • Introduction/Definition • Epidemiology • Pathogenesis • Classification • Risk factors • Common congenital Anomalies • Management • Prevention • Conclusion 18/07/2017 21:34 Okechukwu A. Ugwu 2
  3. 3. INTRODUCTION 1 • “In recent years, the feeling has grown in both the professional and general public that we must be concerned not simply with insuring the birth of the baby but of one that will not be a liability to society, to its parent and to itself’’ – Dancis 1969
  4. 4. INTRODUCTION/DEFINITION 2 • A FOETAL CONGENITAL ANOMALY is an abnormality of structure, function or metabolism existing at or before birth that results in physical or mental disabilities or neonatal death • In many cases these malformations are minor and do not impact on either the short- or long-term outcome of the individual • The most common severe structural congenital anomalies are heart defects and neural tube 18/07/2017 21:34 Okechukwu A. Ugwu 4
  5. 5. EPIDEMIOLOGY • Global incidence is 2-5%, 3% of which have a major congenital anomaly • 303 000 newborns die within 4 weeks of birth every year due to congenital anomalies (WHO) • occurrence of certain congenital malformations depends on the sex of the child 18/07/2017 21:34 Okechukwu A. Ugwu 5
  6. 6. 18/07/2017 21:34 Okechukwu A. Ugwu 6
  7. 7. PATHOGENESIS • Development of a congenital anomaly depends on: 1. Developmental stage of the fetus at the time of exposure 2. Genetic predisposition and environmental factors. Resistant period (6 days post-fertilization ): the fetus exhibits the " all or none phenomenon“ with regard to major anomalies 18/07/2017 21:34 Okechukwu A. Ugwu 7
  8. 8. PATHOGENESIS-2 • MALFORMATION- an intrinsic abnormality programmed in the process of development usually in the 1st trimester e.g. spinal bifida • DEFORMATION- abnormal form, shape or position of a body part caused by constraint within the uterus, usually occur in the second or third trimester e.g. clubfeet from oligohydraminos • DISRUPTION- : Interference with a normally developing organ system usually occurring after organogenesis. E.g. amniotic band syndrome with resultant limb defects. • SYNDROME- cluster of anomalies with same aetiology e.g. Trisomy 21 • SEQUENCE- developed sequentially as a result of initial insult • ASSOCIATION- occurring frequently together, but, do not seem to be linked aetiologically 18/07/2017 21:34 Okechukwu A. Ugwu 8
  9. 9. CLASSIFICATION • Structural • Functional/Metabolic • Genetics. 18/07/2017 21:34 Okechukwu A. Ugwu 9
  10. 10. RISK FACTORS • Genetic/ Heriditary • Infectious • Environmental /maternal • Unknown cause 50% . 18/07/2017 21:34 Okechukwu A. Ugwu 10
  11. 11. RISK FACTORS- GENETIC • may not be expressed or recognized until later in life. • Inheritance of abnormal genes from either parents • Mutations • Single-gene or multiple-gene disorders • Chromosomal disorders • Consanguineous marriages 18/07/2017 21:34 Okechukwu A. Ugwu 11
  12. 12. RISK FACTORS 2- Infection • TORCHES • ZIKA Virus • Varicella 18/07/2017 21:34 Okechukwu A. Ugwu 12
  13. 13. RISK FACTORS 3-Environmental Maternal exposure to ; • alcohol , tobacco • certain chemicals – benzene, CO • Exposure to excess radiation • Working or living near mines • pesticides • Hyperthermia 18/07/2017 21:34 Okechukwu A. Ugwu 13
  14. 14. RISK FACTORS 4-Maternal • Folic acid deficiency • Iodine deficiency • Excessive vitamin A • Maternal diseases - DM, CF, endocrine abnormalities • Advanced maternal age • Exposure to teratogenic drugs 18/07/2017 21:34 Okechukwu A. Ugwu 14
  15. 15. FDA classification 7/18/2017 15
  16. 16. Category A • Adequate and well-controlled studies in women have failed to demonstrate a risk to the fetus in the first trimester of pregnancy (and there is no evidence of risk in later trimesters). • Levothyroxine, folic acid, magnesium sulfate 7/18/2017 16
  17. 17. Category B • Animal reproduction studies have failed to demonstrate a risk to the fetus and there are no adequate and well- controlled studies in pregnant women. • Metformin, hydrochlorothiazide, cyclobenzaprine, amoxicillin, pantoprazole, Amoxicilin ,Amoxicillin + Clavulanic acid,Cefotaxime Methyl dopa , Metronidazole ,Erythromycin 7/18/2017 17
  18. 18. Category C • Animal reproduction studies have shown an adverse effect on the fetus and there are no adequate and well-controlled studies in humans, but potential benefits may warrant use of the drug in pregnant women despite potential risks. • Tramadol, gabapentin, amlodipine, trazodone, prednisone, Diclofenac, Rifampicin, Fluoroquinolones, Aminoglycosides, Glyburide 7/18/2017 18
  19. 19. Category D • There is positive evidence of human fetal risk based on adverse reaction data from investigational or marketing experience or studies in humans, but potential benefits may warrant use of the drug in pregnant women despite potential risks. (Warning) • Lisinopril, alprazolam, losartan, clonazepam, lorazepam, tetracyclines , Phenytoin Valproic acid , Carbamazepine ACE inhibitors 7/18/2017 19
  20. 20. Category X • Studies in animals or humans have demonstrated fetal abnormalities and/or there is positive evidence of human fetal risk based on adverse reaction data from investigational or marketing experience, and the risks involved in use of the drug in pregnant women clearly outweigh potential benefits.( Contra indication) • Example drugs: atorvastatin, simvastatin, warfarin, methotrexate, finasteride 7/18/2017 20
  21. 21. COMMON CONGENITAL ANOMALIES-1 CARDIOVASCULAR SYSTEM ANOMALIES Aortic stenosis Pulmonary stenosis Tetralogy of fallot Ventricular septal defect Atrioventricular septal defect CENTRAL NERVOUS SYSTEM ANOMALIES Neural tube defects Hydrocephalus Holoprosencephaly Agenesis of the corpus callosum Dandy-Walker malformation 18/07/2017 21:34 Okechukwu A. Ugwu 21
  22. 22. COMMON CONGENITAL ANOMALIES-2 GASTROINTESTINAL TRACT ANOMALIES Duodenal atresia, esophageal atresia Abdominal wall defects(Omphalocele, Gastroschisis) SKELETAL SYSTEM ANOMALIES skeletal dysplasias, myotonic dystrophy URINARY TRACT ANOMALIES Renal agenesis Multicystic dysplastic kidney Lower urinary tract obstruction 18/07/2017 21:34 Okechukwu A. Ugwu 22
  23. 23. COMMON CONGENITAL ANOMALIES-3 • RESPIRATORY SYSTEM • Tracheo-esophageal fistula • Congenital atelectasis • Congenital stridor • Congenital cyanosis • BLOOD DISORDERS • Thalassemia • Hemophilia • Sickle cell Anemia • Congenital spherocytosis 18/07/2017 21:34 Okechukwu A. Ugwu 23
  24. 24. COMMON CONGENITAL ANOMALIES-4 METABOLIC DISORDERS • Cystic fibrosis • G6PD Deficiency • Phenylketonuria • Congenital lactose intolerance • Glycogen storage diseases • Wilson’s disease • Inborn errors of metabolism, etc., ENDOCRINE ABNORMALITIES • Congenital hypothyroidism(cretinism) • Congenital adreno genital hyperpalsia 18/07/2017 21:34 Okechukwu A. Ugwu 24
  25. 25. CENTRAL NERVOUS SYSTEM ANENCEPHALY MENINGOENCEPHALOCELE-
  26. 26. Central Nervous system Meningocele Meningomyelocele
  27. 27. CHROMOSOMAL ABNORMALITIES Edward’s syndrome
  28. 28. CHROMOSOMAL ABNORMALITIES • Down’s syndrome(Trisomy-21)
  29. 29. Uterine Anomalies Absence of Uterus Fusion anomalies
  30. 30. MANAGEMENT-1 • PRE-CONCEPTION • ANTEPARTUM • POST PARTUM 7/18/2017 OSUNWUSI,B.O 30
  31. 31. Management -2 PRECONCEPTION PERIOD • Health Education • Folic acid supplementation • Iodine fortification • Good glycaemic control prior to pregnancy • Stoppage of potential teratogenic drugs • Genetic counseling 18/07/2017 21:34 Okechukwu A. Ugwu 31
  32. 32. Prenatal care • History Taking • Abnormal findings during routine examination • Abnormal findings during routine investigations • Specific Antenatal diagnostic procedures 32
  33. 33. METHODS OF PRENATAL DIAGNOSIS • Non-Invasive/Minimally Invasive Techniques • Invasive Techniques • NON-INVASIVE TCHNIQUES/MINIMALLY INVASIVE TECHNIQUES – Maternal serum alpha-fetoprotein – Unconjugated Estriol – HCG – PAPP-A – Cell free Fetal DNA – Anomaly scan at 18-22 weeks – Fluorescent in situ hybridization (FISH)/Array comparative genomic hybridization (a-CGH) – Pre-implantation Genetic Diagnosis - genetic profiling of oocytes/embryos prior to fertilization/implantation (Not discussed)
  34. 34. INVASIVE TECHNIQUES –AMNIOCENTESIS –CHORIONIC VILLUS SAMPLING –PERCUTANEOUS UMBILICAL BLOOD SAMPLING (CORDOCENTESISI) –FETOSCOPY
  35. 35. Management 3 • A multidisciplinary team approach: • Obstetrician • Paediatrician, • Paediatric surgeon, • Paediatric cardiologist, • Neurosurgeons, Urologists, psychologist, counselors, social health workers. • Counseling 18/07/2017 21:34 Okechukwu A. Ugwu 35
  36. 36. Management -4 • Medical treatment- Fetal transfusion • Fetal surgery: • Stem cell transplantation and gene therapy: 18/07/2017 21:34 Okechukwu A. Ugwu 36
  37. 37. INTRAPARTUM • Timing and • Mode of delivery 18/07/2017 21:34 Okechukwu A. Ugwu 37
  38. 38. POSTPARTUM CARE • Counseling/psychosocial support • Contraception • Re-enrolment back to preconception care clinic. • NNU admission for the neonate 18/07/2017 21:34 Okechukwu A. Ugwu 38
  39. 39. PREVENTION • Adequate intake of folic acid • Iodine through fortification of staple foods or supplementation, • Adequate antenatal care . • Abstinence from intake of harmful substances e.g. alcohol • Genetic counseling • Vaccination • Discourage consanguinous marriages • Protection of individuals & whole communities against mutagens (X-ray, drugs • Prevention of intrauterine infections. 18/07/2017 21:34 Okechukwu A. Ugwu 39
  40. 40. conclusion • When a fetal structural anomaly is identified, regardless of gestation, there are several key issues that must be considered. • It is crucial to remember that to the pregnant woman the detection of any anomaly is a source of great anxiety and stress. • Women should receive information regarding the abnormal ultrasound findings in a clear, sympathetic and timely fashion, and in a supportive environment that ensures privacy. • Whenever appropriate, referral to a tertiary fetal medicine unit should be made. 18/07/2017 21:34 Okechukwu A. Ugwu 40
  41. 41. ALSO KNOW THAT • ANOMALIES CAUSED BY INUTERO EXPOSURE TO DES • Benign vaginal adenosis- most common • Cervical hoods, septae, collars and cockscoomb • Uterine hypoplasia- most common uterine anomaly caused by DES • T-shaped uterus • Wide lower segment • Uterine constriction bands • Perifimbrial paratubal cysts • Vaginal clear cell adenocarcinoma-rare 18/07/2017 21:34 Okechukwu A. Ugwu 41
  42. 42. • THANK YOU 18/07/2017 21:34 Okechukwu A. Ugwu 42

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