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Congenital Anomalies of Foetus

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Dr.Suresh Babu Chaduvula Professor Department of OBGYN College of Medicine, KKU, Abha, KSA. Ambiguous genitalia Twin-Twin Transfusion Syndrome ... – PowerPoint PPT presentation

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Title: Congenital Anomalies of Foetus


1
Congenital Anomalies of Foetus
  • Dr.Suresh Babu Chaduvula
  • Professor
  • Department of OBGYN
  • College of Medicine, KKU, Abha, KSA.

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

3
Etiology
  • GENETIC
  • Trisomies Downs, Edwards, Pataus syndromes
    6
  • Single gene disorders Autosomal and X linked
    disorders 5

4
Etiology
  • Infections 2
  • TORCH and Parvo viral infections
  • Maternal Illnesses 5
  • Diabetes, Epilepsy
  • Drugs 1-2
  • Warfarin, Lithium, Phenytoin
  • Radiation

5
Etiology
  • Alcohol
  • Hypoxia
  • Multifactorial 20 Neural tube defects,
    Congenital heart defects, cleft lip and palate
  • Idiopathic 60

6
Etiology
  • Advanced maternal age above 40 years Downs
    syndrome or Mongolism
  • High Parity at risk for malformations except
    Anencephaly and spinabifida

7
Three factors
  • 1. Teratogenic agent dose
  • 2. Duration of gestation and exposure
  • 3.Genetic susceptibility of the fetus and
    feto-maternal immune response

8
Importance after Organogenesis
  • Growing fetus is still affected following
    organogenesis like
  • Intrauterine death
  • IUGR
  • Functional disorders

9
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

10
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

11
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

12
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.,

13
Investigations
  • MSAFP
  • CVS
  • USG
  • Amniocentesis
  • Triple test MSAFP, HCG, Estriol
  • Cordocentesis
  • Fetoscopy
  • 3D or 4D USG
  • Preimplantation genetic diagnosis

14
Postnatal diagnosis
  • Imperforate anus
  • Tracheo-oesophageal fistula

15
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.

16
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

17
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.

18
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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Defects of neurulation failure of the neural
fold to close
Anencephaly
Spina bifida
www.neurochirurgie-zwolle.nl/ spina.html
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Anencephaly
30
spina bifida
31
Bilateral cleft lip with cleft palate

32
Gastroschisis
33
Omphalocele
34
Ambiguous genitalia
35
Twin-Twin Transfusion Syndrome
36
Cystic Hygroma
37
Sacrococcygeal teratoma
38
Bladder exstrophy
39
  • Thank You All
  • All the Best
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