Birth
defects
1.5% of all births
show significant congenital abnormalities
2 000 recognised
syndromes
Some are associated,
e.g. VATER, vertebral, anal, tracheo-oesophageal
fistula, renal
Birth defects include
disorders caused by labour
Congenital disorders
develop before birth from abnormal embryogenesis or genetics
Maternal age
Maternal nutrition
Maternal illness,
congenital abnormality incidence doubles in diabetes mellitus
Maternal drug
therapy, thalidomide, steroids linked to cleft lip and palate
Maternal drug abuse
Birth order, neural
tube defects more common in first pregnancy
Congenital infection,
rubella virus – cataracts, deafness, heart defects. Cytomegalovirus
– neurological problems
CNS
Anencephaly Hydrocephalus
Microcephaly Neural
tube defects
Spina bifida Foetal
alcohol syndrome
CVS
Half of all birth
defects
Atrial septal defects
Ventricular septal
defects
Patent ductus
arteriosus
Tetralogy of Fallot -
pulmonary stenosis, VSD, deviation of the aortic origin to the right,
hypertrophy of right ventricle.
RS
Choanal atresia
(without opening or narrowing) - prevents the passage of air from the nasal
passages into the pharynx
Microgathia - small
lower jaw may result in posterior displacement of the tongue
Diaphragmatic hernia
- loops of bowel may herniate into the chest causing significant respiratory
difficulties
Locomotor system
Developmental
dysplasia of the hip (congenital dislocation)
Extra fingers
Webbing of fingers
Missing limbs or part
of limbs
GIT
Cleft lip / palate
Atresia (narrowing)
of the oesophagus
Trachea / oesophagus
fistula
Intestinal
obstruction - may be complete or incomplete, distal or proximal to the ampulla
of Vater
Omphalocele - defect
in the umbilical ring allows bowel to protrude
Hypospadias –
urethral orifice situated on the ventral surface of the penis, anywhere from
glands to base
Ureteric reflux
Non descended testes