We screen for severe skeletal dysplasias at the 20-week screening scan (between 18+0 and 20+6 weeks of pregnancy). Sometimes these conditions may be visible during an earlier scan, usually around 12 weeks of pregnancy.

Follow-up tests and appointments

As the result of your 20-week screening scan suggests your baby may have a severe skeletal dysplasia, we will refer you to a specialist fetal medicine team for further investigation, support and counselling. They may be based at the hospital where you are currently receiving antenatal care, or in a different hospital.

The fetal medicine team will offer you more scans and extra tests, such as amniocentesis, which will confirm if your baby has a severe skeletal dysplasia and what this might mean. You may also be referred to a genetics team and offered further tests to find out what type of severe skeletal dysplasia your baby has. Usually, the exact diagnosis is made through genetic testing, X-rays and a detailed examination after your baby is born.

It may be useful to write down any questions that you want to ask before you see the specialist team.

Some examples of skeletal dysplasias

Common skeletal dysplasias and associated symptoms include:

• Thanatophoric dysplasia is typically characterised by abnormal shortness of limbs; a bowed femur (thigh bone) or other bones of the extremities; a small chest cage; thickened soft tissues; flattened vertebrae; unusually prominent forehead and depressed nasal bridge; and Cloverleaf skull (type II).
• Campomelic dysplasia is generally associated with a bowed femur (thigh bone) or other bones of the extremities; shortened limbs clubfeet; missing ribs; ambiguous genitalia; flattened facial features; and an unusually prominent forehead.
• Achondroplasia is characterised by shortened limbs, short forearms and lower legs; stubby fingers unusually prominent forehead; and abnormally decreased distance of the lumbar vertebrae in the lower back.
• Osteogenesis imperfecta typically includes fractures; bowed, irregular thickened bones; short/normal size extremities; soft, thin skull
• Achondrogenesis presents with thickened soft tissues; short limbs; bones of the spine that are not mineralised or fully formed; and a small thorax.

Outcome

There is no treatment for severe skeletal dysplasias. Sadly, most babies with a severe skeletal dysplasia will be stillborn or die soon after birth. This is because they cannot survive without properly developed lungs.

Next steps and choices

If it is confirmed that your baby has a severe skeletal dysplasia, you can talk to the specialist team caring for you during your pregnancy about your baby’s condition and what this might mean. The team will provide you with as much information as possible so you can make a personal informed choice about your pregnancy options. These include either continuing with your pregnancy or ending your pregnancy.

You might want to learn more about severe skeletal dysplasias. It can be helpful to speak to a support organisation with experience of helping parents in this situation.

If you decide to continue with your pregnancy, the specialist team will help you plan your care. They will discuss with you how you wish your baby to be cared for after birth. Depending on your baby’s specific symptoms, palliative care may be offered. Children’s palliative care is about promoting the best possible quality of life and care for every child with a life-limiting condition and their family.

If you decide to end your pregnancy, you will be given information about what this involves and how you will be supported. You should be offered a choice of where and how to end your pregnancy and be given support that is individual to you and your family.

If you wish to build some memories of your baby, staff will offer you and your family help to do so.

Only you know what the best decision for you and your family is. Whatever decision you make, your healthcare professionals will support you.