The term “cerebral palsy” is used to describe a group of conditions which affect parts of the brain which control the muscles of the body. It occurs in about 1 in 400 children.. The causes are often unknown but it is thought that the brain abnormalities occur silently during development of the fetal brain in the third trimester. Cerebral palsy may not be suspected until signs of fetal distress occur during labour or soon after birth when the baby starts to have fits. Occasionally problems arise during early childhood. Contrary to long held beliefs research has shown that 98 out of 100 cases of cerebral palsy are not related to a complication of labour or delivery. A higher risk of cerebral palsy has been associated with some antenatal infections, fetal growth restriction, premature birth and a multiple pregnancy (twins or triplets.) Cerebral palsy rates have not changed over the past 40 years despite many advances in obstetric care.
Chorionic villus biopsy is the same as chorionic villus sampling.
Chorionic villus sampling or CVS is a procedure where a sample of the future placenta is taken for analysis. It is done under ultrasound guidance in our rooms with the pregnant woman awake. See Chorionic villus sampling on this website.
Chromosomal abnormalities occur when there is a change in the number or structure of the chromosomes. In humans, each cell contains 46 chromosomes. The chromosomes contain the genes which are the blueprint for our development. The most common chromosomal abnormality in humans is Trisomy 21 ( Down syndrome) where there is an extra number 21 chromosome in every cell. Many chromosomal abnormalities occur more commonly in pregnancies of older women.
See Risk of chromosomal abnormalities.
Cleft lip and /or palate is a defect in the tissue between the mouth and nose or the top of the mouth and the nasal cavity. Cleft lip occurs in about one in 1000 births. Cleft palate occurs in about 5 in 1000 births. Cleft lip is sometimes detected with ultrasound. It can be confirmed with 3D ultrasound. Isolated cleft palate is more difficult to detect. These defects can be corrected by plastic surgery. Occasionally they are associated with other syndromes.
This abnormality of the foot and ankle causes e the foot to turn down and inwards. It affects about o e in 735 babies. It can be treated with physiotherapy or a plaster cast and surgery.
Congenital abnormality is the medical term for Birth Defect. See Birth Defect in this Index
This is also called developmental dysplasia of the hip. It occurs when the top end of the thigh bone is not held securely in its socket in the pelvic bone in one or both hips. One of two babies in 1000 are born with this defect. It can be corrected, with the use of leg splints for a few months. But it must be detected early, usually by routine examination of the newborn baby at the “baby check”
An absent or underdeveloped thyroid gland leaves the affected newborn baby deficient in thyroid hormone. This occurs in about one baby in 3000 to 4000 babies. It leads to delayed growth and intellectual disability. Routine testing of newborns can detect this condition. It is easily treated with thyroid hormone supplements that are started during the first weeks of life.
Cystic fibrosis is a single gene defect, the most common genetic condition in our community. It is a recessive disorder which means that the affected child inherits one defective gene from each parent. The parents are carriers and they may never know that they carry this abnormal gene. In cystic fibrosis the mucus in several organs becomes abnormally thick and sticky. The mucus of the lungs blocks the airways and predisposes them to infections. The mucus of the pancreas and gut is abnormally sticky so they have problems with malabsorption. The condition affects about one bay in 2,500. About one person in 25 is a carrier of the abnormal gene.
A cystic hygroma is an abnormality which is characterised by single or multiple cysts of the lumphatic system. They are usually found around the neck. They are associated with chromosomal abnormalities as well as other syndromes
baby Naomi with TGA - Ming-Yu and Tom Chen
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