Fetal Abnormality Diagnosis

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If you are facing a fetal abnormality diagnosis there are a range of organisations both here in the UK and globally who provide information and support for families expecting a child with a disability.

It is very important to get a perspective on your unborn child’s disability from parents who have a child with that disability and these organisations can help facilitate with these parents.

It is also important to bear in mind that there is a mixed record in UK for the providing of non-directive counselling to those facing a fetal abnornality diagnosis. In a survey by the University of Leeds, only 32% of obstetricians reported counselling pregnant women non-directively, and two researchers recently concluded that all pre-natal counselling is, in reality, directive (1). A father of a baby aborted on grounds of disability said “Our consultant guided us through the decision making process … she made it easier to say yes (to the abortion) knowing it was the only way.”

If you have been offered pre-natal screening it is important that you know about the the risks involved in testing, that you do not have to take the tests and whether there will be a therapeutic benefit for your unborn child from taking the tests – for more information on pre-natal screening see our pre-natal screening section here.

Below we provide contacts for support organisations for common disabilities and the stories of people living with each of these disabilities. If the diagnosis you have been given is not listed here, please get in contact with us and we will put you in touch with an organisation or family that specialises in supporting parents facing that particular diagnosis.

(1)“Antenatal screening for Down’s syndrome” by Helen Statham and Wendy Solomou. The Lancet 5 December 1998.

Down Syndrome

Common Diagnosis – Down Syndrome

Down’s syndrome is a genetic condition caused by the presence of an extra chromosome in the body’s cells. Down’s syndrome is not a disease, and it is not a hereditary condition. It occurs by chance at conception.

Everyone with Down’s syndrome will have some degree of learning disability. Certain physical characteristics are common among people with Down syndrome, and they can be more prone to certain medical problems. However, the most important thing to remember is that everyone with Down syndrome is an individual, with their own strengths and weaknesses and personality traits that make them  who they are.

For more information on the condition see the Down’s Syndrome Association booklet, People with Down’s syndrome – Your questions answered, which is available here.

STORIES – Elyssa, Rachel and Sam

This video explores the life, hopes, challenges and dreams of three kids living with Down syndrome. Elyssa, Rachel and Sam share personal stories to help viewers better understand their condition and why they wish to be treated just like you. Each of our stars has their own talents, characteristics, strengths and challenges. Down syndrome is just one part of who they are and this film identifies how to handle and accommodate differences while celebrating the many similarities our friends with Down syndrome have with their peers.

Support

Down’s Syndrome Association (UK)

The Down’s Syndrome Association (DSA) is the only organisation in England, Wales and Northern Ireland which supports people with Down’s syndrome at every stage of life.  They provide info about all aspects of living with Down’s syndrome including specialist advisers on benefits, education and health, advise new parents or anyone experiencing difficulties, promote and facilitate information exchange between members through various groups.

Continuing Pregnancy with a Diagnosis of Down’s Syndrome booklet

http://www.downs-syndrome.org.uk/

 

International Down Syndrome Coalition For Life (IDSC)

IDSC for Life is dedicated to serving individuals with Down syndrome from conception throughout their lives. They achieve this by supporting families who have been given a prenatal diagnosis of Down syndrome. Of special note is the many Facebook groups that they run for parents at various stages of their journey to get support from other parents who have been through that stage or who are currently going through that stage.

http://www.theidsc.org/

IDSC Facebook groups

IDSC Connections: This group is set up as parent to parent support.
IDSC Prenatal Diagnosis: This group is set up for those who have/had a prenatal diagnosis.
IDSC Babies and Toddlers This group is for parents who have children who are two and under who have Down syndrome.
IDSC PreK/Elementary This group is for parents who have children in Pre Kindergarten or Elementary school.
IDSC Middle School This group is for parents who have children who are pre teens or young teens.
IDSC Parents/caregivers of Preteens/teens/and Adults This group is for parents/caregivers of preteens, teens, and adults.
IDSC Dads Our dads asked us to make them a group too. So we did!
IDSC Conexión en Espanol: Fue creada para conectar a la gente de habla hispana que tienen hijos con Sindrome Down.
IDSC Dual Diagnosis: This group is for those who have a loved one who has Down syndrome, and they also have another diagnosis as well.
IDSC Sibs: This group is for those who have a sibling who has Down syndrome.
IDSC Friends and Family: This group is for those who have a friend or family member who has a loved one with Down syndrome.
IDSC Love and Loss: This group is set up for parents and loved ones who have loved and lost someone who has Down syndrome.
IDSC Hope and Healing: We have had many families come to us, who chose to terminate their pregnancy, and regret it. They want to talk to others who have been through this too. To be a part of this group, please email idsc.information@gmail.com. We want to respect the privacy of our members so we will not be listing a link to this group. That will be given individually. Thank you for understanding.

 

Saving Downs

Saving Downs are a New Zealand-based group of parents of children with Down syndrome with a worldwide following. They:

  • Raise awareness around the discriminatory and eugenic nature of the practice of antenatal screening in our country;
  • Provide a balanced perspective on life with Down Syndrome;
  • Give support for parents with a prenatal diagnosis;
  • and Advocate for social justice.

http://www.savingdowns.com/

Saving Downs Facebook page: http://www.facebook.com/savingdowns

Spina Bifida

Common Diagnosis – Spina Bifida

Spina Bifida is a fault in the spinal column in which one or more veterbrae (the bones which form the backbone) fail to form properly, leaving a gap or split, causing damage to the nervous system. (1)

What are the different types of Spina Bifida?

Occult Spinal Dysraphism (OSD)
Infants with this have a dimple in their lower back. Because most babies with dimples do not have OSD, a doctor has to check using special tools and tests to be sure. Other signs are red marks, hyperpigmented patches on the back, tufts of hair or small lumps. In OSD, the spinal cord may not grow the right way and can cause serious problems as a child grows up. Infants who might have OSD should be seen by a doctor, who will recommend tests.

Spina Bifida Occulta
It is often called “hidden Spina Bifida” because about 15 percent of healthy people have it and do not know it. Spina Bifida Occulta usually does not cause harm, and has no visible signs. The spinal cord and nerves are usually fine. People find out they have it after having an X-ray of their back. It is considered an incidental finding because the X-Ray is normally done for other reasons. However, in a small group of people with SBO, pain and neurological symptoms may occur. Tethered cord can be an insidious complication that requires investigation by a neurosurgeon.

Meningocele
A meningocele causes part of the spinal cord to come through the spine like a sac that is pushed out. Nerve fluid is in the sac, and there is usually no nerve damage. Individuals with this condition may have minor disabilities.

Myelomeningocele (Meningomyelocele), also called Spina Bifida Cystica
This is the most severe form of Spina Bifida. It happens when parts of the spinal cord and nerves come through the open part of the spine. It causes nerve damage and other disabilities. Seventy to ninety percent of children with this condition also have too much fluid on their brains. This happens because fluid that protects the brain and spinal cord is unable to drain like it should. The fluid builds up, causing pressure and swelling. Without treatment, a person’s head grows too big, and may have brain damage. Children who do not have Spina Bifida can also have this problem, so parents need to check with a doctor.

How is Spina Bifida Treated?

A child with Meningomyelocele usually is operated on within two to three days of birth. This prevents infections and helps save the spinal cord from more damage.

A child with Meningocele usually has it treated with surgery, and more often than not, the child is not paralyzed. Most children with this condition grow up fine, but they should be checked by a doctor because they could have other serious problems, too.

A child with OSD should see a surgeon. Most experts think that surgery is needed early to keep nerves and the brain from becoming more damaged as the child grows.

Spina Bifida Occulta usually does not need to be treated. (2)

Detailed information is available at the US-based Spina Bifida Association website’s What is Spina Bifida? page, which can be accessed here http://www.spinabifidaassociation.org/site/c.evKRI7OXIoJ8H/b.8277225/k.5A79/What_is_Spina_Bifida.htm.

(1) http://www.ssba.org.uk/content/spina_bifida_definition/#sthash.LmcYWXEj.dpuf

(2) http://www.spinabifidaassociation.org/site/c.evKRI7OXIoJ8H/b.8277225/k.5A79/What_is_Spina_Bifida.htm

Stories – Kay – Embarrassing Bodies

Stories – Sophie, Eric, Joshua, Ramu – The Spina Bifida Experience

Stories – First Date – Scottish Spina Bifida Association

Support

Scottish Spina Bifida Association (Scotland)

The Scottish Spina Bifida Association is the only specialist charity in Scotland to provide a lifetime commitment of dedicated support services, training and projects for everyone affected by the conditions.

The Association will provide help to families whenever they need it. From finding out that your pregnancy has been affected by spina bifida at the 20 week scan, to 3 months intensive support when your baby is born.

From being at your side during your child’s first operations, to every stage in your child’s transition into adulthood. Through everything, the SSBA are there to provide the reassurance, advocay, information and support at a time when families need it most.

http://www.ssba.org.uk/

 

Shine Charity (UK)

Shine is a registered charity, which was formed in 1966, initially to help families and individuals affected by spina bifida and hydrocephalus.

Today, Shine is a community of 75,000 individuals, families, friends, and professionals, sharing achievements, challenges and information on living with hydrocephalus, or spina bifida, and related issues. Working together throughout England, Wales and Northern Ireland, we strive to overcome challenges and achieve the best for you and your family.

http://www.shinecharity.org.uk/

 

Spina Bifida Association (US)

The Spina Bifida Association (SBA) serves adults and children who live with the challenges of Spina Bifida. They are dedicated to enhancing the lives of those with Spina Bifida and those whose lives are touched by this challenging birth defect. Its tools are education, advocacy, research, and service.

They produce many excellent resources on Spina Bifida that are available through their website.

http://www.spinabifidaassociation.org/

Cystic Fibrosis

We are currently working on developing the content for this section. In the meantime if you need information and support when faced with this diagnosis, please get in contact with us and we will put you in touch with an organisation or family that specialises in supporting parents facing this particular diagnosis.

Heart Defects

We are currently working on developing the content for this section. In the meantime if you need information and support when faced with this diagnosis, please get in contact with us and we will put you in touch with an organisation or family that specialises in supporting parents facing this particular diagnosis.

Oral Clefting

We are currently working on developing the content for this section. In the meantime if you need information and support when faced with this diagnosis, please get in contact with us and we will put you in touch with an organisation or family that specialises in supporting parents facing this particular diagnosis.

Skeletal Dysplasias

We are currently working on developing the content for this section. In the meantime if you need information and support when faced with this diagnosis, please get in contact with us and we will put you in touch with an organisation or family that specialises in supporting parents facing this particular diagnosis.

Brain Abnormalities

We are currently working on developing the content for this section. In the meantime if you need information and support when faced with this diagnosis, please get in contact with us and we will put you in touch with an organisation or family that specialises in supporting parents facing this particular diagnosis.

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