We are still working on updating our own resources to keep you as up to date and informed as possible. Please find below information that we have collated on the following topics:

  • Pre Natal Testing
  • Sexuality & Puberty
  • Sleep Apnea
  • Eyesight
  • Developmental Milestones


Pre-Natal Testing

A new non-invasive blood test can reliably detect whether or not an unborn baby has Down's syndrome during the first trimester of pregnancy, researchers have said.

The test, which analyses a baby's DNA present in its mother's blood, could be an improvement on current screening methods, according to the study.

Down's syndrome, and other chromosomal disorders characterised by an additional chromosome, is currently tested for between the 11th and 13th weeks of a pregnancy, using an ultrasound screen and a hormonal analysis of the pregnant woman's blood.

The only definitive test involves chorionic villus sampling and amniocentesis but that carries a risk of miscarriage.

A study, published in the Ultrasound in Obstetrics & Gynecology journal involved mothers-to-be at King's College Hospital, London.

It is the first to look at the feasibility of screening for the chromosomal disorders - known as trisomies - using foetal cell free DNA (cfDNA) from a pregnant woman's blood.

The tests, carried out at the 10-week stage on 1,005 pregnancies, were found to be more sensitive at detecting Down's syndrome and returned fewer "false positive" results than the combined tests usually carried out between the 11th and 13th weeks. The cfDNA test returned false positive rates of 0.1% compared to 3.4% for the combined tests.

The study's authors said: "This study has shown that the main advantage of cfDNA testing, compared with the combined test, is the substantial reduction in false positive rate. Another major advantage of cfDNA testing is the reporting of results as very high or very low risk, which makes it easier for parents to decide in favour of or against invasive testing."

They also found that if cfDNA testing is carried out after a combined test at 11 to 13 weeks, 98% cases of Down's syndrome could be detected. Invasive testing was then needed for confirmation in less than 0.5% of cases.

The authors added: "Screening for trisomy 21 by cfDNA testing contingent on the results of an expanded combined test would retain the advantages of the current method of screening, but with a simultaneous major increase in detection rate and decrease in the rate of invasive testing."

Source: Independent.ie

Sexuality & Puberty

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Sleep Apnea


Apnea (meaning "without breath") is the term used when someone stops breathing for very short periods of time, usually 10 to 20 seconds. It's termed "obstructive" when respiratory efforts continue, such as movements of the chest. It's termed "central" when all respiratory effort stops. In children, sleep apnea is almost always obstructive. During the apneic episode, the child will have decreased oxygenation of the blood.

Obstructive Sleep Apnea (OSA) is defined by sleep abnormalities that consist of complete and partial upper airway obstruction during sleep, a reduction in the amount of air entering the lungs with an abnormally high level of carbon dioxide in the blood, and oxygen loss.

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The eye problems which may affect children with Down syndrome are commonly those which occur in any group of children - they just tend to occur more frequently and sometimes to a more marked degree.

Health Visitors and General Practitioners will arrange for the children in their care to have their eyes checked and this is even more important if a child has Down syndrome. The treatment of children with Down syndrome usually differs very little from that of other children.

Because of their learning difficulties children with Down syndrome sometimes need vison tests designed for younger children. They may find it easier to sign rather than name pictures verbally. Children with a heart condition do not usually have a problem if they need eye surgery, but advice from the cardiologist should be sought.

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Developmental Milestones

There is no such thing as a typical child with Down syndrome. Children with the syndrome are as different from each other as are all children. However, by and large, their development is slower than that of most children.

The charts which follow give the usual developmental progress of children with the syndrome. By understanding what is usual for a child with Down syndrome you will be able to recognise any additional problems at an early stage. Many parents like to record developmental ‘firsts’ on the pages provided in the main PCHR. You may also like to use the Early Support Programme Developmental Journal for Babies and Children with Down Syndrome. Information on how to access this can be found under “Early Support”.

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