Home > Pregnancy & Birth > How Does Osteogenesis Imperfecta Affect Pregnancy?

How Does Osteogenesis Imperfecta Affect Pregnancy?

By: Kathryn Senior PhD - Updated: 21 Jan 2013 | comments*Discuss
Osteogenesis Imperfecta Oi Pregnancy

Osteogenesis imperfecta, also commonly known as brittle bone disease, is a genetic disease that affects the bones. It is due to mutations in one of the genes that code for collagen, an important structural protein in the skeleton and in connective tissue. The symptoms and problems it can cause vary; some mutations cause little effect on bones but in the most severe cases, the joints are weak, curvature of the bones and spine can develop, fractures occur throughout life, growth can be restricted and the teeth and even lungs can be affected.

Men and women are affected equally and people who have osteogenesis imperfecta can live well into adulthood and can and do have children. For women with this genetic condition, pregnancy can pose a few challenges because of the changes in the body that affect the skeleton.

Osteogenesis Imperfecta in Pregnancy

OI is a relatively rare condition so there is very little information available about the range of effects that it can have in pregnancy. Doctors and midwives are often inexperienced in caring for a pregnant woman with OI, and referral to a specialist early on may be advised.

One of the normal effects of pregnancy on the body is that the hormones produced make the joints ‘looser’. This is a mechanism that has evolved to allow the pelvic bones to become more elastic to allow the baby to pass through them during birth, without breaking. Further weakening of bones and joints in a woman with osteogenesis imperfecta aggravates her condition, even if she has a mild form of OI. Joints can become painful and it can become difficult to walk and move. It is important to visit a dentist throughout pregnancy, as the impact of pregnancy hormones on the collagen in the gums can cause the teeth to become loose.

Most at risk of difficulties in pregnancy are women who are more severely affected, and who are shorter than normal height. They may be more at risk of a caesarean when the baby is born.

Heart and Lung Problems

In women who have marked curvature of the spine, the increase in size of the baby as pregnancy progresses can result in her not being able to breathe well. The space for the lungs is already smaller than normal and the baby presses upwards, causing more pressure. In some cases, a pregnancy may have to be ended, or an emergency delivery carried out as the mother’s life may be in danger.

Pregnancy and Broken Bones

Although the evidence is relatively scarce, the information that we have suggests that women with OI don’t suffer from more frequent fractures in pregnancy compared to any other time of life. A difficult birth can lead to fractures, however, particularly if the baby is large, or forceps or other methods to help the birth need to be used. Once the baby is born, it takes a few months for the hormones and the bones and joints to return to normal and women with OI need to take special care during this time to avoid falls and bumps.

Babies Born with Osteogenesis Imperfecta

A pregnancy can also be affected by OI if the diagnosis is in the baby rather than the mother. Until the birth, there is no way to really know the extent of the disease in the unborn baby. In very tragic cases, the baby may live for only a few hours; the effects of OI are so severe that they do not support life. In other children, OI may cause fractures and problems during childhood, but the extent and frequency of these depends on the mutation and how severe the OI syndrome turns out to be. Around 35% of children with OI are born to parents who do not have an obvious mutation, so it is not always possible to have genetic tests to predict whether OI will be a problem in subsequent children. The mutation can be a spontaneous event that affects only one child.

If tests do show that you or your partner have a genetic background that makes it likely that other children will be affected, it is possible to either opt for IVF with pre-implantation diagnosis, or to have an amniocentesis test during a later pregnancy. The difficulty with the second option is that you may then face the decision of whether to carry on with the pregnancy or not; support and counselling should be available to help, but this will still be a heart wrenching choice.

You might also like...
Share Your Story, Join the Discussion or Seek Advice..
Why not be the first to leave a comment for discussion, ask for advice or share your story...

If you'd like to ask a question one of our experts (workload permitting) or a helpful reader hopefully can help you... We also love comments and interesting stories

(never shown)
(never shown)
(never shown)
(never shown)
Enter word:
Latest Comments
  • Rose
    Re: What is Squamous Metaplasia?
    I just recently had my biopsy result from a liquid-based pap smear test & the result is: acute & chronic cervicitis with squamous…
    19 January 2018
  • rinwang
    Re: What is Squamous Metaplasia?
    What is the risk in Chronic Cervicitis with Squamous Metaplasia? what treatment required?
    11 September 2017
  • seema
    Re: What is Squamous Metaplasia?
    Sir it is about my mother actually after 5 years suddenly she had bleeding when she asked to the doctor ,she advised for a test .I…
    20 July 2017
  • Higgy
    Re: All About the Coil
    What was the IUD made of in 2001? I was led to believe that mine was removed in 2006,but I don't think it was.... I am currently being tested…
    1 July 2017
  • ami
    Re: All About Female Sterilisation
    I'm 36. and I was sterilised when I was 21. at the time I wasn't in a great place and my head was all over the place. now I have…
    18 September 2016
  • f.t
    Re: Benefits Of Evening Primrose Oil
    If periods blocked due to disease then we use this oil plz help
    30 August 2016
  • Charlie
    Re: Women & Depression
    I don't even know when l have periods because it just comes on all a sudden.x why do women have to have periods X Men get away with…
    25 May 2016
  • kimmy
    Re: Lymphedema: What Causes It?
    my sister has lymphodema and want some advice how to get rid of it or help fix it.
    11 May 2016
  • FemaleHealthIssues
    Re: What is Squamous Metaplasia?
    farhana - Your Question:I Just got my Microscopic Examination Report. I want understand the report could you please help me.Smears…
    6 April 2016
  • farhana
    Re: What is Squamous Metaplasia?
    I Just got my Microscopic Examination Report . I want understand the report could you please help me. Smears show superficial…
    4 April 2016
Further Reading...
Our Most Popular...
Add to my Yahoo!
Add to Google
Stumble this
Add to Twitter
Add To Facebook
RSS feed
You should seek independent professional advice before acting upon any information on the FemaleHealthIssues website. Please read our Disclaimer.