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

1. FOETAL CONGENITAL ANOMALIES IN
PREGNANCY
DR OKECHUKWU A. UGWU
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2. OUTLINE
• Introduction/Definition
• Epidemiology
• Pathogenesis
• Classification
• Risk factors
• Common congenital Anomalies
• Management
• Prevention
• Conclusion
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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. 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
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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
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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
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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
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9. CLASSIFICATION
• Structural
• Functional/Metabolic
• Genetics.
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10. RISK FACTORS
• Genetic/ Heriditary
• Infectious
• Environmental /maternal
• Unknown cause 50% .
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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
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12. RISK FACTORS 2- Infection
• TORCHES
• ZIKA Virus
• Varicella
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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
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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
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15. FDA classification
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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
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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
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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
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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
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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
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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
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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
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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
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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
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25. CENTRAL NERVOUS SYSTEM
ANENCEPHALY MENINGOENCEPHALOCELE-

26. Central Nervous system
Meningocele
Meningomyelocele

27. CHROMOSOMAL
ABNORMALITIES
Edward’s syndrome

28. CHROMOSOMAL ABNORMALITIES
• Down’s syndrome(Trisomy-21)

29. Uterine Anomalies
Absence of Uterus Fusion anomalies

30. MANAGEMENT-1
• PRE-CONCEPTION
• ANTEPARTUM
• POST PARTUM
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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
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32. Prenatal care
• History Taking
• Abnormal findings during routine examination
• Abnormal findings during routine investigations
• Specific Antenatal diagnostic procedures
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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. INVASIVE TECHNIQUES
–AMNIOCENTESIS
–CHORIONIC VILLUS SAMPLING
–PERCUTANEOUS UMBILICAL BLOOD SAMPLING
(CORDOCENTESISI)
–FETOSCOPY

35. Management 3
• A multidisciplinary team approach:
• Obstetrician
• Paediatrician,
• Paediatric surgeon,
• Paediatric cardiologist,
• Neurosurgeons, Urologists, psychologist, counselors, social health
workers.
• Counseling
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36. Management -4
• Medical treatment- Fetal transfusion
• Fetal surgery:
• Stem cell transplantation and gene therapy:
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37. INTRAPARTUM
• Timing and
• Mode of delivery
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38. POSTPARTUM CARE
• Counseling/psychosocial support
• Contraception
• Re-enrolment back to preconception care clinic.
• NNU admission for the neonate
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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.
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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.
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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
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42. • THANK YOU
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