Genetic Birth Defects

Genetic Birth Defects can be inherited or caused during the embryonic stage during the first 12 weeks of fetal development. Tests can be carried out early on in the pregnancy to determine if your unborn child is affected and there is a wide range of professional support and council available to assist and advise you on your options and what there is to expect.

Congenital Birth Defects

A list of birth defects that are more commonly known:

  • Cleft Palate, also known as Cleft Lip or HairLip can affect both the lip and palate. It is a congenital deformity caused by abnormal facial development that becomes apparent at the end of the embryonic phase (12 weeks)
  • Breathing difficulty is the most common symptom of Cystic Fibrosis. It is a hereditary disease that affects the entire body causing progessive disability.
  • Down Syndrome is a chromosomal disorder caused by the presence of an extra chromosome. It is normally associated with impaired cognitive ability and physical growth.
  • Edward Syndrome, also known as Trisomy 18 or Trisomy E is a genetic disorder that is caused by the presence of an extra or duplicate 18th chromosome. Survival rate is low as there will be a multitude of internal organ disorders.
  • Ingestion of alcohol during pregnancy can result in Fetal Alcohol Syndrome which stunts growth and can damage neuron and brain structure development in the fetus.
  • Potter Syndrome, also referred to as Potters Sequence or Oligohydramnios Sequence refers to the physical appearance of the baby at birth that has been subject to decreased volumes of amniotic fluid, enough to cause disruptions to the physical development
  • Sickle Cell Anaemia or Sickle Cell Disease is a genetic life-long blood disorder
  • Spina Bifida is a developmental pregnancy birth defect caused by the incomplete closure of the neural tube leaving vertebrae overlying the spinal cord that are not fully formed or remain open.
  • Tay Sachs Disease is a genetic disorder that mutates itself around 6 months after birth resulting in relentless deterioration of mental and physical ability.
  • Turner Syndrome is a chromosomal disorder that affects female fetuses where one of the X sex chromosomes are missing or damaged.

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