Trisomy 21 (Down Syndrome)

Also known as Down syndrome, trisomy 21 is a genetic condition

caused by an extra chromosome. Most babies inherit 23
chromosomes from each parent, for a total of 46 chromosomes.
Babies with Down syndrome however, end up with three
chromosomes at position 21, instead of the usual pair.
Other examples of trisomies occur at position 13 and 18. Trisomy 21 is
the most common of the three, occurring in 1 out of every 691 births.
The disorder was first identified in 1866 by John Langdon Down, a
British physician, and later named after him.
Causes
Down syndrome occurs because of the extra copy of chromosome 21,
which can cause the body and brain to develop differently than a child
without the syndrome.
The risk of having a baby with Down syndrome increases as a woman
ages — women older than 35 are often encouraged to have prenatal
genetic testing done of their unborn babies — but, because younger
women have more babies, they give birth to 80 percent of babies with
Down syndrome.
Signs and symptoms
Symptoms of Down syndrome may include:
 Distinctive facial features
 Mild to moderate intellectual disabilities
 Heart, kidney and thyroid issues
 Numerous respiratory infections, from colds to bronchitis and pneumonia
 Skeletal abnormalities, including spine, hip, foot and hand disorders
 Flexible joints and weak, floppy muscles
 Overly quiet baby
 Less responsive to stimuli etc.
Testing and diagnosis

Tests to confirm Down syndrome are often done before a baby is born
through amniocentesis or chorionic villus sampling (CVS). For
amniocentesis, a needle is inserted through the mother’s abdominal wall
into the amniotic sac and a small sample of amniotic fluid is drawn out and
tested in a laboratory.
If your child was not prenatally diagnosed with Down syndrome, diagnosis
usually begins at birth based on your child’s physical appearance. Doctors
will ask you for a thorough family medical history, do a physical exam of
your child, and analyze your child’s chromosomes. Once a diagnosis is
made, additional testing may be ordered to help clinicians better
understand how Down syndrome may affect your child and help spot any
early complications from the disorder.
Tests may include:
 Genetic testing, in which a sample of your child’s saliva is used to identify
your child’s DNA.
 Blood tests, which can help determine drug usage and effectiveness,
biochemical diseases and organ function.
 X-rays, which produce images of bones.
 Magnetic resonance imaging (MRI), which uses a combination of large
magnets, radiofrequencies and a computer to produce detailed images of
organs and structures within the body.
 Computed tomography (CT) scan, which uses a combination of X-rays and
computer technology to produce cross-sectional images ("slices") of the
body.
 EOS imaging, an imaging technology that creates 3-dimensional models
from two planar images. Unlike a CT scan, EOS images are taken while the
child is in an upright or standing position, enabling improved diagnosis —
for some conditions — due to weight-bearing positioning.
Treatments

There is no cure for Down syndrome. Treatment is ordered when certain

issues — such as heart problems, muscle weaknesses or spinal curvatures —
occur and need to be treated.
At Children’s Hospital of Philadelphia (CHOP), we practice collaborative,
family-centered care. A team of expert clinicians — including world-class
surgeons and physicians, pediatric nurses, physical and occupational
therapists, psychologists and other specialists — will partner with you in the
care of your child.
Many children with Down syndrome are also diagnosed with a variety of
secondary conditions that are present at birth and can be treated when your
child is young. This is often true for conditions such as heart issues, hand
and foot anomalies.
In other cases, the complications from Down syndrome may only become
evident — or problematic — as your child grows. This is often true for spinal
deformities such as scoliosis and hip conditions that might require surgical
correction.
Every child’s condition is different, so treatment is determined on a case-
by-case basis. Depending on your child’s needs, specialists from cardiology,
orthopaedics, endocrinology and others will treat your child. Treatment
may include therapy, surgery or additional support services for your child
and family.
A Care Binder can help you organize the most important information about
your child's care in a central place.
Outlook

In 1983, the life expectancy for people with Down syndrome was 25 years;
however today, it is 60 years. Advances in cardiology have significantly
contributed to this rapid increase. As science and technology continue to
improve and the intricacies of Down syndrome are explored and
discovered, it is expected that the life expectancy for people with Down
syndrome will continue to increase too.
Today, children with Down syndrome are included in regular academic
classrooms in schools across the country. In some instances they are
integrated into specific courses, while in other situations students are fully
included in the regular classroom for all subjects. The degree of
mainstreaming is based in the abilities of the child.
Many people with Down syndrome have gone to college, live independently
and hold jobs. These individuals are hard workers and dedicated
employees. A stimulating home environment, positive support from family
and friends, quality educational programs and good healthcare enable
people with Down syndrome to develop their full potential and lead
fulfilling lives. Be creative, persistent and set high expectations.
Despite the advances, children with Down syndrome continue to have a
higher risk of developing certain health conditions, such as heart disease,
gastrointestinal abnormalities and dementia. Early diagnosis and treatment
of these associated conditions leads to better outcomes.
Patau's syndrome

Patau's syndrome is a serious rare genetic disorder caused by having an

additional copy of chromosome 13 in some or all of the body's cells. It's also
called trisomy 13.
Each cell normally contains 23 pairs of chromosomes, which carry the genes you
inherit from your parents.
But a baby with Patau's syndrome has 3 copies of chromosome 13, instead of 2.
This severely disrupts normal development and, in many cases, results in
miscarriage, stillbirth or the baby dying shortly after birth.
Babies with Patau's syndrome grow slowly in the womb and have a low
birthweight, along with a number of other serious medical problems.
Patau's syndrome affects about 1 in every 5,000 births. The risk of having a baby
with the syndrome increases with the mother's age.
More than 9 out of 10 children born with Patau's syndrome die during the first
year.
About 1 in 10 babies with less severe forms of the syndrome, such as partial or
mosaic trisomy 13, live for more than a year.

Symptoms and features

Babies with Patau's syndrome can have a wide range of health problems.
Their growth in the womb is often restricted, resulting in a low birthweight, and 8
out of 10 will be born with severe heart defects.
The brain often does not divide into 2 halves. This is known as holoprosencephaly.
When this happens, it can affect facial features and cause defects such as:
 cleft lip and palate
 an abnormally small eye or eyes (microphthalmia)
 absence of 1 or both eyes (anophthalmia)
 reduced distance between the eyes (hypotelorism)
 problems with the development of the nasal passages
Other abnormalities of the face and head include:
  smaller than normal head size (microcephaly)
 skin missing from the scalp (cutis aplasia)
 ear malformations and deafness
 raised, red birthmarks (capillary haemangiomas)
Patau's syndrome can also cause other problems, such as:
 an abdominal wall defect where the abdomen does not develop fully in the
womb, resulting in the intestines being outside the body, covered only by a
membrane – this is known as an exomphalos or omphalocoele
 abnormal cysts in the kidneys
 an abnormally small penis in boys
 an enlarged clitoris in girls
There may also be abnormalities of the hands and feet, such as extra fingers or
toes (polydactyly) and a rounded bottom to the feet, known as rocker-bottom
feet.

Causes of Patau's syndrome

Patau's syndrome happens by chance and is not caused by anything the parents
have done.
Most cases of the syndrome do not run in families (they're not inherited). They
occur randomly during conception, when the sperm and egg combine and the
foetus starts to develop.
An error occurs when the cells divide, resulting in an additional copy, or part of a
copy, of chromosome 13, which severely affects the baby's development in the
womb.
In many cases, the baby dies before reaching full term (miscarriage) or is dead at
birth (stillbirth).
In most cases of Patau's syndrome, a baby has a whole extra copy of chromosome
number 13 in their body's cells. This is sometimes known as trisomy 13 or simple
trisomy 13.
In up to 1 in 10 cases of Patau's syndrome, genetic material is rearranged
between chromosome 13 and another chromosome. This is called a chromosomal
translocation.
Patau's syndrome that arises because of this can be inherited. Genetic Alliance UK
has more information about chromosome disorders.
In a further 1 in 20 cases, only some cells have the extra copy of chromosome 13.
This is known as trisomy 13 mosaicism. Occasionally, only part of 1 chromosome
13 is extra (partial trisomy 13).
The symptoms and features of both mosaicism and partial trisomy tend to be less
severe than in simple trisomy 13, resulting in more babies living longer.

Screening for Pataus Syndrome

You'll be offered a screening test for Patau's syndrome, as well as Down's
syndrome (trisomy 21) and Edwards' syndrome (trisomy 18), from 10 to 14 weeks
of pregnancy.
The test assesses your chances of having a baby with these syndromes.
The screening test offered at 10 to 14 weeks of pregnancy is called the combined
test because it involves a blood test and an ultrasound scan.
If the screening tests show that you have a higher risk of having a baby with
Patau's syndrome, you'll be offered a diagnostic test to find out for certain
whether your baby has the syndrome.
This test will check your baby's chromosomes in a sample of cells taken from him
or her.
Two techniques can be used to obtain the cell sample: amniocentesis or chorionic
villus sampling (CVS).
These are invasive tests to remove a sample of tissue or fluid so it can be tested
for the presence of the extra copy of chromosome 13.
A newer test has recently been developed where a sample of blood from the
mother is taken so the baby's DNA found within it can be tested.
This is known as non-invasive prenatal testing and is only available privately.
If you're not able to have the combined screening test, you'll be offered a scan
that looks for physical abnormalities, including those found in Patau's syndrome.
This is sometimes called the mid-pregnancy scan and is carried out when you're
between 18 and 21 weeks pregnant.
Edwards' syndrome (trisomy 18)

Edwards' syndrome, also known as trisomy 18, is a rare but serious condition.
Edwards' syndrome affects how long a baby may survive. Sadly, most babies with
Edwards' syndrome will die before or shortly after being born.
A small number (about 13 in 100) babies born alive with Edwards' syndrome will
live past their 1st birthday.

Cause of Edwards' syndrome

Each cell in your body usually contains 23 pairs of chromosomes, which carry the
genes you inherit from your parents.
A baby with Edwards' syndrome has 3 copies of chromosome number 18 instead
of 2. This affects the way the baby grows and develops. Having 3 copies of
chromosome 18 usually happens by chance, because of a change in the sperm or
egg before a baby is conceived.
Your chance of having a baby with Edwards' syndrome increases as you get older,
but anyone can have a baby with Edwards' syndrome. The condition does not
usually run in families and is not caused by anything the parents have or have not
done.
Speak to a GP if you want to find out more. They may be able to refer you to a
genetic counsellor.

Types of Edwards' syndrome

The symptoms, and how seriously your baby is affected, usually depend on
whether they have full, mosaic, or partial Edwards' syndrome.
Full Edwards' syndrome

Most babies with Edwards' syndrome have an extra chromosome 18 present in all
cells. This is called full Edwards' syndrome.
The effects of full Edward's syndrome are often more severe. Sadly, most babies
with this form will die before they are born.
Mosaic Edwards' syndrome

A small number of babies with Edwards' syndrome (about 1 in 20) have an extra
chromosome 18 in just some cells. This is called mosaic Edwards' syndrome (or
sometimes mosaic trisomy 18).
This can lead to milder effects of the condition, depending on the number and
type of cells that have the extra chromosome. Most babies with this type of
Edward's syndrome who are born alive will live for at least a year, and they may
live to adulthood.
Partial Edwards' syndrome

A very small number of babies with Edwards' syndrome (about 1 in 100) have only
a section of the extra chromosome 18 in their cells, rather than a whole extra
chromosome 18. This is called partial Edwards' syndrome (or sometimes partial
trisomy 18).
How partial Edwards' syndrome affects a baby depends on which part of
chromosome 18 is present in their cells.
Advice for new parents

There's support available for whatever you or your baby needs.

All babies born with Edwards' syndrome will have some level of learning disability.
Edwards' syndrome is associated with certain physical features and health
problems. Every baby is unique and will have different health problems and
needs. They will usually have a low birthweight and may also have a wide range of
physical symptoms. They may also have heart, respiratory, kidney or
gastrointestinal conditions.
Despite their complex needs, children with Edwards' syndrome can slowly start to
do more things.
Like any child they'll:
 have their own personality
 learn at their own pace
 have things that are important and unique to them
Try not to think too far ahead and enjoy time with your baby.
Screening for Edwards' syndrome

If you're pregnant, you'll be offered screening for Edwards' syndrome between 10

and 14 weeks of pregnancy. This looks at the chance of your baby having the
condition.
This screening test is called the combined test and it works out the chance of a
baby having Edwards' syndrome, Down's syndrome and Patau's syndrome.
During the test you'll have a blood test and an ultrasound scan to measure the
fluid at the back of your baby's neck (nuchal translucency).
Read more about screening for Down's syndrome, Edwards' syndrome and
Patau's syndrome at 10 to 14 weeks
If it's not possible to measure the fluid at the back of your baby's neck, or you're
more than 14 weeks pregnant, you'll be offered screening for Edwards' syndrome
as part of your 20-week scan. This is sometimes known as the mid-pregnancy
scan. It's an ultrasound scan that looks at how your baby is growing.
Screening cannot identify which form of Edwards' syndrome your baby may have,
or how it will affect them.
Read more about the 20-week scan
Diagnosing Edwards' syndrome during pregnancy

If the combined test shows that you have a higher chance of having a baby with
Edwards' syndrome, you'll be offered a test to find out for certain if your baby has
the condition.
This diagnostic test involves analysing a sample of your baby's cells to check if
they have an extra copy of chromosome 18.
There are 2 different ways of getting this sample of cells:
 chorionic villus sampling, which collects a sample from the placenta
 amniocentesis, which collects a sample of the amniotic fluid from around
your baby
These are invasive tests that increase your chance of having a miscarriage. Your
doctor will discuss this with you.
Results from the diagnostic test

A specialist doctor (obstetrician) or midwife will explain what the screening

results mean and talk to you about your options.
This is a very difficult situation and it's normal to feel a whole range of emotions.
It may help to talk to your doctor, family and friends, or partner about what
you're thinking and how you're feeling.
If you're told your baby has Edwards' syndrome, either before birth or afterwards,
you'll be offered support and information.
You can visit the SOFT UK website for support and more information on Edwards'
syndrome, and to contact other families affected by the condition.
You can also contact Antenatal Results and Choices (ARC), which has information
about screening tests and how you might feel if you're told your baby does have,
or might have, a problem.
ARC has a helpline that can be reached on 0845 077 2290, or 0207 713 7486 from
a mobile, Monday to Friday, 10am to 5.30pm. The helpline is answered by trained
staff, who can offer information and support.
Read more about what happens if antenatal screening tests find something
Diagnosing Edwards' syndrome after birth

If doctors believe your baby has Edwards' syndrome after they're born, a blood
sample will be taken to see if there are extra copies of chromosome 18.
Treating Edwards' syndrome

There's no cure for Edwards' syndrome.

Treatment will focus on the symptoms of the condition, such as heart conditions,
breathing difficulties and infections. Your baby may also need to be fed through a
feeding tube, as they can often have difficulty feeding.
Edwards' syndrome has an impact on your baby's movements as they get older,
and they may benefit from supportive treatment such as physiotherapy and
occupational therapy.
Depending on your baby's specific symptoms, they may need specialist care in
hospital or a hospice, or you may be able to look after them at home with the
right support.
Klinefelter syndrome
Klinefelter syndrome (sometimes called Klinefelter's, KS or XXY) is where boys
and men are born with an extra X chromosome.
Chromosomes are packages of genes found in every cell in the body. There are 2
types of chromosome, called the sex chromosomes, that determine the genetic
sex of a baby. These are named either X or Y.
Usually, a female baby has 2 X chromosomes (XX) and a male has 1 X and 1 Y (XY).
But in Klinefelter syndrome, a boy is born with an extra copy of the X
chromosome (XXY).
The X chromosome is not a "female" chromosome and is present in everyone. The
presence of a Y chromosome denotes male sex.
Boys and men with Klinefelter syndrome are still genetically male, and often will
not realise they have this extra chromosome, but occasionally it can cause
problems that may require treatment.
Symptoms of Klinefelter syndrome
Klinefelter syndrome does not usually cause any obvious symptoms early in
childhood, and even the later symptoms may be difficult to spot.
Many boys and men do not realise they have it.
Possible features, which are not always present, may include:
 in babies and toddlers – weak muscles and very flexible (hypermobile)
joints, learning to sit up, crawl, walk and talk later than usual, being quieter
and more passive than usual, having undescended testicles, only one
testicle, or a smaller penis
 in childhood – shyness and low self-confidence, problems with reading,
writing, spelling and paying attention, mild dyslexia or dyspraxia, low
energy levels, and difficulty socialising or expressing feelings
 in teenagers – growing taller than expected for the family (with long arms
and legs), broad hips, poor muscle tone and slower than usual muscle
growth, reduced facial and body hair that starts growing later than usual,
small, firm testes, and enlarged breasts (gynaecomastia)
 in adulthood – inability to have children naturally (infertility), low sex drive,
small, firm testes, and erection problems.
Health issues in Klinefelter syndrome

Many boys and men with Klinefelter syndrome will not be significantly affected
and can live normal, healthy lives.
Infertility tends to be the main problem, although there are treatments that can
help.
But men with Klinefelter syndrome are at a slightly increased risk of developing
other health problems, including:
 type 2 diabetes
 weak and fragile bones (osteoporosis)
 cardiovascular disease and blood clots
 autoimmune disorders (where the immune system mistakenly attacks the
body), such as lupus
 an underactive thyroid gland (hypothyroidism)
 anxiety, learning difficulties and depression – although intelligence is
usually unaffected
 male breast cancer – although this is very rare
These problems can usually be treated if they do occur and testosterone
replacement therapy may help reduce the risk of some of them.

Causes of Klinefelter syndrome

Klinefelter syndrome is caused by an additional X chromosome.

This chromosome carries extra copies of genes, which may interfere with the
development of the testicles and mean they produce less testosterone (male sex
hormone) than usual.
The extra genetic information may either be carried in every cell in the body or it
may only affect some cells (known as mosaic Klinefelter syndrome).
Klinefelter syndrome is not directly inherited – the additional X chromosome
occurs as a result of either the mother's egg or the father's sperm having the
extra X chromosome (an equal chance of this happening in either), so after
conception the chromosome pattern is XXY rather than XY.
This change in the egg or sperm seems to happen randomly. If you have a son
with the condition, the chances of this happening again are very small.
The risk of a woman having a son with Klinefelter syndrome may be slightly higher
if the mother or father are older.

Testing for Klinefelter syndrome

See your GP if you have concerns about your son's development or you notice any
symptoms of Klinefelter syndrome in yourself or your son.
Early diagnosis and treatment can help prevent health problems in the future.
Treatment can help reduce some of the symptoms if necessary.
In many cases, it's only detected if a man with the condition undergoes fertility
tests.
Your GP may suspect Klinefelter syndrome after a physical examination and may
suggest sending off a sample of blood to check reproductive hormone levels.
The diagnosis can be confirmed by checking a sample of blood for the presence of
the extra X chromosome.
Klinefelter syndrome can also be picked up as part of some screening tests during
pregnancy.

Treatments for Klinefelter syndrome

There's no cure for Klinefelter syndrome, but some of the problems associated
with the condition can be treated if necessary.
Possible treatments include:
 testosterone replacement therapy
 speech and language therapy during childhood to help with speech
development
  educational and behavioural support at school to help with any learning
difficulties or behaviour problems
 occupational therapy to help with any co-ordination problems associated
with dyspraxia
 physiotherapy to help build muscle and increase strength
 psychological support for any mental health issues
 fertility treatment – options include artificial insemination using donor
sperm or possibly intracytoplasmic sperm injection (ICSI), where sperm
removed during a small operation are used to fertilise an egg in a
laboratory
 breast reduction surgery to remove excess breast tissue

Testosterone replacement therapy (TRT)

TRT involves taking medicines containing testosterone. It can be taken in the form
of gels or tablets in children, or given as gel or injections in adult men.
TRT may be considered once puberty begins and may help with the development
of a deep voice, facial and body hair, an increase in muscle mass, reduction in
body fat, and improvement in energy. There is also evidence that it can help with
learning and behavioural problems.
You should see a specialist in children's hormones (a paediatric endocrinologist)
at this time.
Long-term treatment during adulthood may also help with several other problems
associated with Klinefelter syndrome – including osteoporosis, low mood,
reduced sex drive, low self-esteem and low energy levels – although it cannot
reverse infertility.
TRT may be stopped during fertility treatment, or not started until after fertility
treatment.
Treatment with TRT will be monitored by your care team as it can cause side
effects and health issues.

Lifestyle changes
Leading a healthy lifestyle, including eating a healthy diet and exercising regularly,
can help reduce your chances of getting conditions like type 2 diabetes,
osteoporosis, and cardiovascular disease.
It can also help with your mental health, including depression and anxiety.
Try to quit smoking and try to not drink more alcohol than the recommended
limit of 14 units of alcohol a week, spread across 3 days.