Common Health Issues

Parents and carers of children with Trisomy 13 or Trisomy 18 often have similar concerns about their child's health and the best way to manage their child's healthcare needs.

Constipation 

Babies with trisomy 13 and 18 may be prone to constipation and discomfort can be relieved by diet, fluids, or medication depending on the cause and severity. Midwives may suggest adding a little (brown) sugar to the feed as a temporary measure for the very young baby, but suppositories may be needed for chronic constipation. Always seek the advice of the baby's doctor or health visitor.

Apnoea Spells

Apnoea is breath holding and happens more frequently in early infancy, especially when a baby has trisomy 13. The baby stops breathing without warning and becomes limp and blue. Breathing usually starts again after a few moments that will seem like a lifetime. Parents may consider the use of breathing monitors, and learning simple resuscitation.

Common Problems Associated with Trisomy 13 and 18

Babies with trisomy 13/18 often have a low birth weight, low set ears, heart and eye defects, and unusual palm and fingertip patterns. The following problems may be present: abdominal defects (omphalocele); cleft lip, and palate; back of head enlarged (occiput); clenched fists, and overlapping index fingers; club/rocker bottomed feet; spina bifida; spine defect (meningomyelocele); defects of the scalp, diaphragm, lungs, kidneys, and ureter; small mouth and jaw; joint contractions (arthrogrypo)

Heart Defects

Heart defects affect about 80% of babies with trisomy 13, and 90% of babies with trisomy 18, and may be mild or life threatening.

Eye Problems

Chromosome defects can result in the lids not developing and a baby will be unable to see when the eyelids completely cover the eyes, or if the lids are partially separated, and vision will be restricted to looking in one direction only. The eyeballs may be absent or miniature eye(s) (micro-ophthalmus). Such small eyes often have short or long sight. The cornea is the window of the eye, and an abnormal shape creates a gross distortion of vision. Absence or poor development of the eye muscles can result in double vision and a squint (strabismus) where the eyes do not move together as a pair, and occasionally the eye will be unable to move in a particular direction.

Seizures

Seizures may describe frequent jitteriness lasting seconds or mild fits that cause the limbs to twitch. These may do little more than startle the baby, occasionally causing crying, and tend to happen more often when the child is going into or coming out of sleep. They are called myoclonic jerks and are caused by an excess of electrical activity in the brain. 

Kidney and Urine Infections

Kidney defects make babies prone to urinary infections and these should be suspected if the baby develops a fever or other unexplained symptoms. Recurrent urine and kidney infections may need long term antibiotic therapy although they can eventually lead to renal failure.

Heat Sensitivity

Babies with trisomy 18 may be sensitive to changes of temperature and can become distressed in hot weather.

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