Consanguinity (where parents descend from the same kinship and have similar genetic make-up) is also associated with an increased risk of birth defects. Socio-demographic factors – maternal age and some ethnic groups have been associated with an increased risk of birth defects.Genetic testing and screening for the most common disorders can help identify any issues prior to conception and birth. Genetics – an altered or ‘faulty’ gene or set of genes usually means that the information contained in the particular gene is either changed or missing.Tay-Sachs disease – a degenerative disorder affecting nerve cells in the brain and spinal cord.īirth defects can occur during any stage of pregnancy, however most occur in the first three months when the organs of the baby are developing.įactors that may contribute to or increase the chances of a birth defect include:.haemophilia – where the body lacks a specific factor needed for blood clotting.phenylketonuria – a metabolic disorder where the body can’t break down the amino acid phenylalanine.Examples include those affecting the nervous system or brain such as: Functional: anomalies affecting the way the body works or develops.ventricular septal defect – an abnormal connection between the left and right ventricles of the heart.cleft lip – an abnormal gap in the upper lip.hypospadias – where the tube from the bladder (urethra) is in an abnormal position in male babies.spina bifida – incomplete closing of the backbone and membranes around the spinal cord.For example, a body part is absent or improperly formed. Structural: birth defects affecting the way the body is built.Types of congenital anomaliesīirth defects can be broadly classified as: Some structural birth defects can be treated surgically. Structural birth defects are less common and include anomalies of the urinary tract and the heart. This means there are missing, extra or other changes to chromosomes, which contain our genetic information. The most commonly reported birth defects are chromosomal. Birth defects may be structural, functional, genetic, chromosomal or biochemical and may be minor or major in nature. They are commonly detected during pregnancy, at the time of birth or in early childhood. Birth defects may be detected at any time throughout a person’s life or not at all. In Victoria, approximately one in every 22 pregnancies is affected by a birth defect.Ī birth defect is any abnormality occurring during pregnancy. They are the leading cause of death around the time of birth (perinatal mortality). Birth defects (also known as congenital anomalies, congenital malformations, congenital abnormalities or congenital disorders) are a major cause of death and disability in children.
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