When Do You Know Your Baby Has Down Syndrome
If yous or someone you care about has a child with Downwards syndrome, or is pregnant with a Down's syndrome baby, you may accept many questions or feel overwhelmed by what this means. The most important thing that babies with Down syndrome need — just similar whatsoever baby — is a loving, secure environment in which they feel nurtured and supported.
What is Downwardly syndrome?
Down syndrome is the most common chromosomal condition that a baby can exist built-in with. Around i in every 1,000 babies born in Commonwealth of australia has Down syndrome.
Down's syndrome is as well known as Trisomy 21. People with Down syndrome usually look different from other people and may take some difficulty learning new things.
What causes Down syndrome?
Normally, every jail cell in the human body — except egg and sperm cells — has 46 chromosomes. The egg and sperm cells ordinarily take 23 chromosomes each.
The about common crusade of Down syndrome is when an extra copy of chromosome 21 randomly appears in either the egg or sperm. At conception, when the egg and sperm meet, the extra copy of chromosome 21 grows throughout all of the embryo's cells, giving them each 47 chromosomes instead of the usual 46.
Less commonly, the actress re-create of the chromosome tin appear in some of the embryo'due south cells after conception. This is called mosaicism and results in some cells having 46 chromosomes and some having 47.
Another rare form of the syndrome is caused past 'Robertsonian translocation'. This occurs when a piece of chromosome 21 breaks off and becomes joined to another chromosome earlier or afterwards conception. In this case, the embryo's cells volition all have 46 chromosomes, but each prison cell still contains an extra copy of chromosome 21.
What are the most common features of Down's syndrome?
Many babies with Down's syndrome take one or more of the following features at nascency:
- low muscle tone ('floppy' muscles)
- a flatter face with eyes slanting upward
- small ears and a wider neck than usual
- a unmarried pucker across the palm of the manus
- a gap between the first and second toes
Down syndrome is likewise associated with intellectual disability.
However, not everyone with Down syndrome will have all of these features.
What medical complications might come with Down syndrome?
About 1 in every 2 babies born with Down's syndrome will have heart problems and approximately i in x will have gastrointestinal (gut) problems. Hearing and vision problems are likewise more mutual in people with Down syndrome.
How is Down's syndrome diagnosed?
Pregnant women are offered routine antenatal tests at different times during pregnancy and for different reasons. These include screening tests, such as ultrasounds and blood tests, that can help estimate your babe's adventure of being born with a range of conditions, including Down syndrome.
Non-invasive prenatal testing (NIPT) is a new blood exam that tin be done equally an alternative screening test.
Diagnostic tests (such every bit chorionic villus sampling or amniocentesis) will evidence whether a baby actually has Down syndrome.
After the baby is born, chromosome testing from a blood sample, may be washed to confirm Downwards syndrome.
What is the treatment for Down's syndrome?
In that location is currently no way to forbid or cure Down syndrome. Prenatal testing allows you lot and your family to brand informed decisions, including catastrophe the pregnancy. For this reason, before you have the test it'south a good thought to think about why you are choosing to exercise information technology, and how you will feel once you get the results.
Consider also who you lot want to talk over any important decisions with — your partner, a friend or family member, or a health professional such equally your doctor or midwife are all good options.
Early diagnosis can also help you and your doc keep to check your baby for complications and to act early on if needed. Some people with Down syndrome may need surgery to repair eye defects or gut blockages. Medicines to treat thyroid affliction may too exist needed in some cases.
Children all learn and develop at their own pace. However, at that place are constructive early intervention programs for children with Down's syndrome that can assist them reach their learning potential.
Resources and back up
Down syndrome Australia provides support, information and resource for people with Down's syndrome and their families beyond Australia.
Back up services include:
- information and advice about Down syndrome
- data nearly local back up groups
- home visits
- new parent packs
- workshops and webinars
- online support groups for y'all and your family
A national telephone number (1300 881 935) tin can connect you with your local country or territory Downwards syndrome arrangement for farther information.
Speak to a maternal kid wellness nurse
Phone call Pregnancy, Nativity and Baby to speak to a maternal child health nurse on 1800 882 436 or video call. Bachelor 7am to midnight (AET), 7 days a week.
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Source: https://www.pregnancybirthbaby.org.au/screening-for-down-syndrome
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