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PRENATAL

Getting a diagnosis

There are two types of testing used to diagnose babies with achondroplasia before birth

Ultrasound imaging

An ultrasound is a painless, non-invasive test that uses sound waves to create an image of your baby. Routine ultrasounds performed in the second trimester look at the baby’s bones and other body parts. Achondroplasia isn’t typically detected at that time since changes in bone growth usually don’t show up on ultrasounds until the third trimester. For this reason, many babies are not diagnosed until after birth.

If an ultrasound shows signs of achondroplasia, such as shortened long bones in the arms and legs and a larger head, medical guidelines recommend getting seen in a center that can take additional measurements of the baby’s skeleton and provide genetic testing and counseling. It’s important to keep in mind that ultrasounds have only a 40% chance of correctly diagnosing skeletal dysplasia before birth. Any prenatal diagnosis of achondroplasia based on ultrasound should be confirmed with genetic testing and/or clinical evaluation and X-rays after delivery.

Genetic testing

Genetic testing for achondroplasia checks the baby’s DNA for a change in the FGFR3 gene. Genetic testing can be helpful even when there is no family history of achondroplasia. Benefits of genetic testing include:

  • Earlier diagnosis
  • Confirm ultrasound findings
  • Rule out other types of skeletal dysplasia, like hypochondroplasia
  • Help improve care during labor and delivery

If you or your partner has achondroplasia:

Ask your doctor about an appointment with a clinical geneticist or genetic counselor before becoming pregnant to discuss pregnancy, delivery care, and options for prenatal testing.

Questions to ask about prenatal testing

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Building a support network

You are not alone on this journey

If your child was recently diagnosed with achondroplasia, you may be feeling shocked, fearful, worried, or in denial. These feelings are understandable. Everyone copes differently, and how you feel may be different from how your partner feels. It can be helpful to give yourself time to identify and understand your emotions.

Support resources are available and include:

  • Social workers
  • Psychologists
  • Genetic counselors
  • Clergy

You can find additional support resources here. Remember, your child’s care team is the best source of information regarding achondroplasia.

Connecting with others

Connecting with another parent of a child with achondroplasia can be an important source of support in raising a child with short stature. There are many options to start forming these connections. These are just some of the advocacy organizations and community programs that provide support and information to people of short stature and their families. Your child’s doctor may be able to suggest other organizations to help your family.

*QED Therapeutics does not endorse and is not responsible for private social media groups.

National advocacy organizations

Global advocacy organizations

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Sharing the news

When sharing your child’s diagnosis with friends and family, your attitude can influence others’ opinions. Consider taking a positive approach

Each person you share the news with will respond differently. If someone does not give you the response you are looking for, they might not have bad intentions — they just might not know the right thing to say. You can educate others to help them understand.

As your child gets older, strangers might ask you about their height. Preparing a simple and consistent response can help. Some parents carry a brief, informational print-out to share with anyone who has questions. Talking with other parents of children with short stature may provide you with advice and help you maintain a positive outlook.

Building a vocabulary

An important part of understanding achondroplasia is learning how to talk about it. Your immediate and extended family should be on the same page about the language you will use. For example, how you describe short stature to your child, your and their friends, their teachers, and even strangers.

A good place to start is by learning what words are commonly accepted when referring to someone with achondroplasia. These include:

  • Their name (this option is preferred)
  • Person of short stature
  • Person with dwarfism
  • Child with achondroplasia

The term “midget” is generally considered offensive and should be avoided. Also, when talking about the stature of a person who does not have achondroplasia, it is often preferable to say “average height,” instead of “normal height.”

Building a vocabulary takes time, and your conversations with your child will change as they get older. A licensed family therapist can support your family throughout this process. There are also many parenting and children’s books available. Your doctor or your child’s doctor may be able to provide some resources as well.

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References

  1. Abramowicz J. Benefits and risks of ultrasound in pregnancy. Seminars in Perinatology. 2013;37:295–300.
  2. Campbell J & Dorren N. It’s a Whole New View: A Guide for Raising a Child with Dwarfism. Little People of America, Inc. https://www.lpaonline.org/assets/documents/LPA%20New%20View%20FINAL.%20122806.pdf.
  3. Chitty L, et al. New aids for the non-invasive prenatal diagnosis of achondroplasia: dysmorphic features, charts of fetal size and molecular confirmation using cell-free fetal DNA in maternal plasma. Ultrasound in Obstetrics  & Gynecology. 2011;37:283-289.
  4. Hoover-Fong J, et al. Health supervision for people with achondroplasia. Pediatrics. 2020;145(6):e20201010.
  5. Krakow D, et al. Guidelines for the prenatal diagnosis of fetal skeletal dysplasias. Genetics in Medicine. 2009;11:127-133.
  6. Larner G. Ethical family therapy: Speaking the language of the other. Australian and New Zealand Journal of Family Therapy. 2015;36:434-449.
  7. Little People of America. https://www.lpaonline.org/. Accessed 20 March 2024.
  8. Pauli R, et al. Achondroplasia: a comprehensive clinical review. Orphanet Journal of Rare Diseases. 2019;14:1-49.
  9. Savarirayan R, et al. Best practice guidelines regarding prenatal evaluation and delivery of patients with skeletal dysplasia. American Journal of Obstetrics & Gynecology. 2018;219(6):545-562.
  10. Savarirayan R, et al. International consensus statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia. Nature Reviews Endocrinology. 2022;18:173–189.
  11. Shediac R, et al. Experiences of children and adolescents living with achondroplasia and their caregivers. Molecular Genetics & Genomic Medicine. 2022;10:e1891.
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Community Connections

“There was some unknown going into the birth. As soon as she was born, the first reaction was, ‘she is beautiful!’”

father of a teenager living with achondroplasia

“His diagnosis was a major turning point in my life. This was when my new journey as a caregiver and advocate began.”

father of a child living with achondroplasia

“We were always outside, we always were being competitive, playing sports, just being kids.”

young adult living with achondroplasia

“What we have seen is that she has done a great job of adapting herself, getting creative, doing things a little bit differently, but she always finds a way to be successful.”

father of a teenager living with achondroplasia

“My friends would describe me as someone with a big personality, very outgoing, and someone that always is smiling. I’m a people person, and I love making people happy.”

young adult living with achondroplasia

“Really, we are just like everyone else. We may look different, but we like being treated like everyone else.”

teenager living with achondroplasia

“Our daughter is a person. She has feelings. Yes, she may be physically different than other children or other people, but I think that it is important to be aware of those differences without necessarily calling attention to them.”

father of a teenager living with achondroplasia

“Typically, with achondroplasia, people focus on height, but there are other important aspects of the condition that impact quality of life.”

father of a teenager living with achondroplasia

“We have relied heavily on the community. We are quite appreciative of the community and the resources that are available to help parents, siblings and individuals with achondroplasia. The diversity within this community has been quite enriching on many levels.”

father of a teenager living with achondroplasia

“What I want to convey to society is that rare conditions exist, and there are many people in the world who need help. I genuinely wish that the world would be kinder. I hope people have a level of knowledge that allows them to understand the condition when they see a child that is smaller or looks different.”

mother of a child living with achondroplasia

“The greatest joy as a parent is seeing my son be energetic and cheerful. I hope that my son will continue to look forward proudly, hold his head high, and live confidently and cheerfully.”

mother of a child living with achondroplasia

“My joy is seeing my child’s daily progress. There were many things she couldn’t do like other children. She is gradually becoming capable of those things, little by little. I realized that it’s okay to grow slowly.”

mother of a child living with achondroplasia

“I would tell myself back then [at time of diagnosis], just take a deep breath and let go of the fear a little bit. Fear is normal. Once you are over that fear, you kind of just dive in. You dive into the information, and you educate yourself and learn everything you can learn about achondroplasia and really try to be your kid’s biggest advocate.”

mother of a teenager living with achondroplasia

“Shortly after he was born, he was diagnosed with achondroplasia. At first, I was worried and anxious. However, as I learned about people with achondroplasia who thrive and lead full lives, I gradually began to feel at ease.”

mother of a child living with achondroplasia

“I was four years old when my younger brother was born. I was young and didn’t understand what achondroplasia was. I don’t care if my brother is tall or short. I was simply happy to have a younger brother.”

sibling of a person living with achondroplasia

“I see in my future pretty much what anyone else would: graduating school, graduating college, going on to a job I like, starting a family.”

teenager living with achondroplasia

“Having achondroplasia, you are going to come across challenges consistently. The way you are going to deal with them is really going to impact your life. Yes, I have challenges; obstacles get thrown at me all the time, but it’s the way of going about it and realizing there is so much more to life than having achondroplasia.”

young adult living with achondroplasia