Congenital Anomalies of Foetus

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Congenital Anomalies of Foetus

• Dr.Suresh Babu Chaduvula
• Professor
• Department of OBGYN
• College of Medicine, KKU, Abha, KSA.

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• Incidence 2- 5
• Perinatal deaths 20
• CNS malformations 50
• Physical and Mental disabilities

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Etiology

• GENETIC
• Trisomies Downs, Edwards, Pataus syndromes
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• Single gene disorders Autosomal and X linked
  disorders 5

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Etiology

• Infections 2
• TORCH and Parvo viral infections
• Maternal Illnesses 5
• Diabetes, Epilepsy
• Drugs 1-2
• Warfarin, Lithium, Phenytoin
• Radiation

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Etiology

• Alcohol
• Hypoxia
• Multifactorial 20 Neural tube defects,
  Congenital heart defects, cleft lip and palate
• Idiopathic 60

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Etiology

• Advanced maternal age above 40 years Downs
  syndrome or Mongolism
• High Parity at risk for malformations except
  Anencephaly and spinabifida

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Three factors

• 1. Teratogenic agent dose
• 2. Duration of gestation and exposure
• 3.Genetic susceptibility of the fetus and
  feto-maternal immune response

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Importance after Organogenesis

• Growing fetus is still affected following
  organogenesis like
• Intrauterine death
• IUGR
• Functional disorders

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Teratogenecity or Pathogenesis

• 1. Folic acid deficiency
• 2. Epoxides and Arena oxides
• 3. Genetic mutations
• 4. Maternal Diseases
• 5. Homeobox genes regulatory genes - over
• expressed during organogenesis

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Maternal and Fetal drug transfer

• Conception occurs at 14th day
• Before 31 days All or None effect
• Between 31 and 71 days Critical period
• 71 days to 280 days continuous development of
  internal organs and brain occur

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FDA Risk Categories for Drugs and Medications

• Category A Human studies reveals no fetal
• effects
• Category B Animal studies and human studies
  reveal no effects
• Category C Animal studies show adverse
  effect but not in humans
• Category D Evidence of fetal risk but
  benefits outweigh the risks
• Category X - Contraindicated

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Diagnosis

• Genetic Counselling
• Recurrence is 6 fold and 70 in second and third
  pregnancies
• Age, family history, history of past
  malformations
• Antenatal complicatons like oligo, poly
  hydramnios etc.,

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Investigations

• MSAFP
• CVS
• USG
• Amniocentesis
• Triple test MSAFP, HCG, Estriol
• Cordocentesis
• Fetoscopy
• 3D or 4D USG
• Preimplantation genetic diagnosis

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Postnatal diagnosis

• Imperforate anus
• Tracheo-oesophageal fistula

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WHEN ?

• Grosser anomalies are detected earlier
• The golden period for an anomaly scan is from 18
  to 28 weeks (20-24 weeks is ideal).
• Attempting an anomaly ultrasound scan during the
  III trimester can be frustrating because
• The foetal parts are more crowded
• The liquor volume is lesser
• Gross foetal movements are lesser and
• The foetal bones shadow densely.

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WHAT ?

• FOETAL PHYSIOLOGICAL HALLMARKS
• Foetal mid Gut rotation occurs at 9-11 weeks
• This results in physiological bowel herniation
• This should not be misinterpreted as an
  omphalocoele
• Foetal swallowing urinary out put sets in at
  14-18 weeks
• Therefore, GI and Urinary abnormalities can be
  diagnosed only after 14 week
• Foetal epidermal keratinisation occurs around
  14-18 weeks.
• Hence 3 D can be done only after 18 weeks

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HOW ?Protocol for TIFFA

• Head and neck
• Cerebellum
• Choroid plexus
• Cisterna magna
• Lateral cerebral ventricles
• Midline falx
• Cavum septi pellucidi
• Chest
• The basic cardiac examination
• includes a 4-chamber view of the fetal heart.
• If technically feasible, an extended basic
  cardiac examination can also be attempted to
  evaluate both outflow tracts.

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HOW ?Protocol for TIFFA

• Abdomen
• Stomach (presence, size, and situs)
• Liver, Gall-Bladder and Spleen
• Kidneys
• Bladder
• Umbilical cord insertion site into the fetal
  abdomen
• Umbilical cord vessel number
• Spine
• Cervical, thoracic, lumbar, and sacral spine
• Extremities
• Legs and arms (presence or absence)
• Gender
• Medically indicated in low-risk pregnancies only
• For evaluation of multiple gestations

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Lack of development Bilateral renal agenesis
Insufficient development Microcephaly
Redundant development  Polydactyly
Incomplete closure Neutral tube defects
Incomplete separation Syndactyly
Aberrant morphogenesis Mediastinal thyroid
Incomplete migration Pelvic kidney
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Defects of neurulation failure of the neural
fold to close
Anencephaly
Spina bifida
www.neurochirurgie-zwolle.nl/ spina.html
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Anencephaly
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spina bifida
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Bilateral cleft lip with cleft palate

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Gastroschisis
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Omphalocele
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Ambiguous genitalia
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Twin-Twin Transfusion Syndrome
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Cystic Hygroma
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Sacrococcygeal teratoma
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Bladder exstrophy
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• Thank You All
• All the Best