Pregnancy is a beautiful yet scary journey. There are lots of ups and downs, like a rollercoaster of emotions and hormones, as you try to navigate the unknown. Not every pregnancy story is as perfect as it seems on TV, and this article intends to help inform parents-to-be about a rare genetic disorder, help you understand how it is detected and what the options are, if it is a positive detection.  

Fraser Syndrome (FS) is a rare genetic disorder, its clinical manifestations include abnormalities which can have varying effects on different body parts. Typical symptoms include: 

1. Syndactyly – the ‘webbing’ of fingers or toes
2. Cryptophthalmos – an eye abnormality where the eyes are partially covered due to fused eyelids.
3. Genitourinary anomalies – abnormalities in the urinary tract (kidneys, ureters, and bladder) or the genital tract (reproductive organs)

There is a lot of medical jargon that can be very daunting to even read about; however, this article intends to help you understand all the jargon by putting things in simple terms. Early detection of FS is imperative; prenatal detection allows the parents and healthcare professionals to make informed decisions on the pregnancy and, if brought to term, how to support the child’s disabilities. This article will explore the methods available for prenatal detection of Fraser Syndrome, the interpretation of results, and the next steps for parents who receive a positive diagnosis.

Understanding fraser syndrome

The complexity of Fraser Syndrome stems from the vast array of symptoms which can affect different parts of the body and each to a different degree. 

Scientists have identified the genes FRAS1, FREM2, or GRIP1^1,2 of interest, which means that both parents carry at least one mutated gene. This will result in a 25% chance of the baby developing the disease as Fraser Syndrome as it is usually inherited through what scientists call an autosomal recessive pattern.

Think of your DNA as a cookbook; your mum has given you one recipe, and your dad gives you another. Both recipes are to make the same thing. If one recipe has a mistake but the other is fine, the dish still turns out okay, just like you’d be healthy but carry a mutated gene. This is called being a carrier. But if both recipes have the same typo, the dish is ruined, which is like having an autosomal recessive disease. You only get the disease if both copies of the recipe are faulty.

Key features of fraser syndrome include

Cryptophthalmos: Visual impairment or blindness can result as the eyelids are either partially or fully fused, covering the eyes.³

Syndactyly: Webbing or fusion of the fingers and toes. The severity of this depends on how fused the fingers/toes are, it can be partial or completely fused.⁴

Genitourinary Anomalies: In males, undescended testes (cryptorchidism) and hypospadias (abnormal placement of the urethra) are common. In females, the condition can affect the development of the external genitalia.⁵

Other Potential Features: Fraser Syndrome can also cause hearing loss, limb deformities, and respiratory issues due to tracheal and laryngeal abnormalities.⁶

FS is a rare disease, coupled with the fact that there is a huge range of severity, which makes detection difficult. To be precise with the diagnosis, genetic counselling is recommended. 

Prenatal detection methods

There are several different ways that healthcare professionals can use to gather important information about FS. Here are some examples:

Genetic Counselling is advisable for any parents who are aware of a family history of FS. Genetic counsellors are specialists who will assess the risk of genetic conditions, they can help explain the implications of genetic testing and will be able to provide support to families through decision-making processes.

What to expect

You will be asked for a family history in as much detail as possible and potentially a genetic test, This information is critical as it can reveal if any parents are carriers for FS and then evaluate the potential risk. If you and your partner are carriers for FS, this does not rule out the possibility of having a healthy baby. The next step will be…

Prenatal testing options

If a risk is identified before or during a pregnancy, more testing will be undergone to detect symptoms of FS. 

Ultrasound

It is a non-invasive imaging technique and is very commonly used to monitor fetal development in all pregnancies. 

What Ultrasound Can Detect: Used around the second trimester, it can be used to identify physical malformations typical of FS.

What Ultrasound Cannot Detect: A certain genetic diagnosis.

Chorionic villus sampling (CVS)

CVS is a prenatal test and is performed between the first 10-13 weeks of pregnancy. 

What to expect: It is an invasive test, where a small sample of the placental tissue is extracted for analysis. The reason this is helpful is that the tissue contains the same genetic material as the unborn baby, so it will give a definitive answer if the baby has FS or not. 

Risks: CVS carries a slight risk of miscarriage around -0.11%.⁷

Amniocentesis

This is a prenatal test which is performed between 15 and 20 weeks.

What to expect: a small amount of amniotic fluid is collected via a needle in the abdomen and then genetically tested by a professional. The reason this is useful is due to the presence of cells from the fetus, which also allows for definitive testing of FS.

Risks: Like CVS, amniocentesis carries a small risk of miscarriage, around 0.12%.⁷

Non-invasive prenatal testing (NIPT)

This screening tool analyses DNA from the foetus that is present in the mother’s blood, this technology is fairly new a and is primarily used to screen for more common chromosomal abnormalities, such as Down syndrome, it can sometimes provide clues that prompt further investigation for conditions like Fraser Syndrome; however, cannot provide a definitive answer alone. 

Interpreting results and next steps

Once tests are completed, a healthcare professional will discuss the results with you. This can be a challenging and emotional time for parents, so parents must be equipped with all the relevant knowledge to help guide them through the results. 

Positive findings

A positive test result indicating Fraser Syndrome can be hard to process, but you won’t be alone; your healthcare provider will explain what the findings mean. No two cases are the same, so the severity of the syndrome and the specific symptoms that may be expected will also be discussed in great detail. 

There will be an emotional impact on parents, and it is therefore extremely important that emotional support is sought after. The website below has links that can help you navigate this journey: https://rarediseases.info.nih.gov/diseases/6465/fraser-syndrome/living

Options available

Making a decision will not be an easy task, but once you’re ready, your healthcare provider will be able to advise you on whatever options you choose. There are two main options, and neither is right or wrong: 

Continuation: If the parents decide that continuation is a suitable and viable option for them and their unborn child. Thanks to the prenatal diagnosis, they can have a head start on preparation for an effective care plan and liaise with specialists to organise surgeries, necessary medical interventions and other ongoing needs that will need to be considered after birth. 

Termination: The severity of the syndrome may be life-threatening, and/or the quality of life of your child may be severely impacted; these are just two reasons that parents may consider termination. 

Ongoing support and resources

Regardless of the decision made, ongoing support is crucial. Parents should be connected with support groups, which can be accessed in the link above. These groups will provide support regardless of your decision. 

Conclusion

It’s important to remember that there is support available for you at every stage, from genetic counselling to post-diagnosis care. By seeking professional advice and accessing the right resources, parents can navigate this challenging journey with the knowledge and support they need.