Cleft Lip and Palate: Genetic Assessment

What is cleft lip and palate?

When a baby is developing during the first few weeks of pregnancy, the left and right sides of the face naturally meet in the middle and fuse together. If these parts do not fuse correctly, a space called a ‘cleft’ results. Clefts of the lip and palate are the most common types of birth defects, occurring in about one in every 1,000 births.

In most children, clefts happen because of a mix of genetic and environmental factors. Most babies with a cleft lip and/or palate are otherwise healthy with no other birth defects. Some babies who have clefts may have other medical problems or a family history of clefts. This may suggest a genetic cause for the cleft.

For more information about cleft lip and palate, please see our Pregnancy & Babies Resource Centre

Understanding genetics

Genetics is the area of biology that studies heredity and sudden changes in genetic material. Heredity is the passing of features, such as eye colour, from parent to child.

For parents of children with a cleft lip and/or palate, understanding genetics is important. This is because some syndromes associated with clefts can be passed from parent to child.

For more information about genetics, please see How the Body Works.

Genetic assessment for cleft lip and palate

If your baby has a cleft lip and/or palate, you will be referred for a genetic assessment. This will happen during your child’s first appointment with the cleft lip and palate team. The purpose of a genetic assessment is to help families understand why their child was born with a cleft lip and/or palate. The genetic assessment usually happens after your child is 1 year of age. If the cleft is found before the baby is born or a genetic syndrome is suspected, you may see the genetics team earlier.

Your genetic assessment team

You will meet different healthcare providers during the genetic assessment.

Your child’s geneticist is a medical doctor who specializes in genetics.

Genetic counsellors provide families with information and supportive counselling about genetic conditions. They may talk to you about ethical issues, coordinate testing (i.e. blood tests and amniocentesis), advocate for you, and put you in touch with community resources.

Parts of a genetic assessment

The genetic counsellor will ask you questions about three generations of your family’s history, your own medical history, and your child's growth and developmental history. The counsellor will also explain how the diagnosis might affect other family members. Everything you discuss with the genetic counsellor is completely confidential.

The geneticist will perform a physical exam, and, in most cases, will offer genetic and/or other testing. Your child may have a blood test to either rule out a condition or syndrome or pinpoint a diagnosis.

Sometimes the geneticist may suspect the source of a child’s problem, but it could take many years before a firm diagnosis is made. The geneticist will usually start with the most obvious diagnoses and rule them out one by one.

A genetic assessment can help you give your child the best care

If a diagnosis of a syndrome is made, your geneticist will help you decide the best care plan for your child. The geneticist may also refer your child to other specialists.

The genetic counsellor will help you understand your child’s diagnosis and give you written material about the syndrome. The counsellor will also help you inform others including teachers at your child's school and other family members.

Cleft lip and palate in your family

If you have one child with a cleft, you may be wondering if you will have another with the same condition. Both the geneticist and the genetic counsellor can estimate your chances of having another child with a cleft. The geneticist or genetic counsellor may suggest testing for other family members if they suspect these members have a mild form of a condition or syndrome that may not be obvious.

In a 2009 study of 150 SickKids patients with a cleft lip and/or palate, 75% of families who took part in a genetic assessment were given an explanation for their child’s cleft.

When a child was found to have a genetic syndrome, 71% had a family history. This helped with making the diagnosis.

Genetic counselling can provide answers to some other common questions

  • Can the cleft be genetic even if there is no family history?
  • What are the chances that my child will have their own child with a cleft?
  • Can a cleft be prevented?

Key points

  • Clefts of the lip and palate are the most common types of birth defects, occurring in about one in every 1,000 births.
  • In most children, clefts happen because of a mix of genetic and environmental factors.
  • Your child’s geneticist is a medical doctor who specializes in genetics.
  • For parents of children with a cleft lip and/or palate, understanding genetics is important because some syndromes associated with clefts can be passed from parent to child.

Sarah Bowdin, MD, MRCPCH(UK), MSc

Elaine Goh, MD

Natalie Gyenes

Tina Martins

Laura Zahavich, MSc, CGC

3/21/2011

At SickKids

Clinical Genetics is a division at The Hospital for Sick Children (SickKids), which is also a part of the Cleft Lip and Palate Team. Our goal is to help families understand why their child was born with a cleft lip and/or palate. 





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