Transcript Congenital-Anomalies-(SlideShow)

Dr.Suresh Babu Chaduvula
Professor
Department of OBGYN
College of Medicine, KKU, Abha, KSA.
 Incidence
 Perinatal
 CNS
: 2- 5 %
deaths – 20 %
malformations – 50 %
Physical and Mental disabilities
 GENETIC:
 Trisomies
– Down’s, Edward’s, Patau’s
syndromes [6%]
 Single
gene disorders – Autosomal and X
linked disorders [5%]
 Infections:
[2%]
TORCH and Parvo viral infections
 Maternal Illnesses: [5%]
Diabetes, Epilepsy
 Drugs: [1-2%]
Warfarin, Lithium, Phenytoin
Radiation:
 Alcohol:
 Hypoxia:
 Multifactorial:
[20%] – Neural tube defects,
Congenital heart defects, cleft lip and palate
 Idiopathic
– 60%
 Advanced
maternal age – above 40 years –
Down’s syndrome or Mongolism
High Parity – at risk for malformations except
Anencephaly and spinabifida
 1.
Teratogenic agent: dose
 2.
Duration of gestation and exposure
 3.Genetic
susceptibility of the fetus and
feto-maternal immune response
 Growing
fetus is still affected following
organogenesis like:
 Intrauterine
death
 IUGR
 Functional
disorders
 1.
Folic acid deficiency
 2. Epoxides and Arena oxides
 3. Genetic – mutations
 4. Maternal Diseases
 5. Homeobox genes – regulatory genes - over
expressed during organogenesis
 Conception
 Before
31 days – All or None effect
 Between
 71
occurs at 14th day
31 and 71 days – Critical period
days to 280 days – continuous
development of internal organs and brain
occur
 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
 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.,
 MSAFP
 CVS
 USG
 Amniocentesis
 Triple
test – MSAFP, HCG, Estriol
 Cordocentesis
 Fetoscopy
 3D or 4D USG
 Preimplantation genetic diagnosis
 Imperforate
anus
 Tracheo-oesophageal
fistula
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1.
2.
3.
4.
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.
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


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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
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.
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
Lack of development
Bilateral renal agenesis
Insufficient development
Microcephaly
Redundant development
Incomplete closure
Incomplete separation
Aberrant morphogenesis
Polydactyly
Neutral tube defects
Syndactyly
Mediastinal thyroid
Defects of neurulation:
failure of the neural fold to close
Anencephaly
Spina bifida
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www.neurochirurgie-zwolle.nl/
spina.html
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Anencephaly
spina bifida
Bilateral cleft lip with cleft palate
Gastroschisis
Omphalocele
Ambiguous genitalia
Twin-Twin Transfusion Syndrome
Cystic Hygroma
Sacrococcygeal teratoma
Bladder exstrophy
Thank You All
&
All the Best