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Pregnancy Clinic

Genetics · Sevenoaks, Kent

Genetic Carrier Screening

A little knowledge today. More informed choices for tomorrow.

Most babies are born healthy, and most couples have no known family history of genetic conditions. However, we all carry genetic variations, some of which can be passed on to our children.

Genetic carrier screening is a blood or saliva test that can identify whether you or your partner carry certain inherited genetic conditions, even when you are both completely healthy.

At The Pregnancy Clinic, we offer personalised carrier screening with specialist advice to help you understand your reproductive risks and plan your pregnancy with greater confidence.

  • For individuals and couples
  • Before pregnancy or during early pregnancy
  • Consultant-led assessment

What is genetic carrier screening?

Carrier screening examines your DNA to identify genetic variants associated with certain inherited disorders.

Many of these conditions follow an autosomal recessive inheritance pattern. This means that when both partners carry a disease-causing variant in the same gene, there may be a chance of having an affected child.

Other conditions, such as some X-linked disorders, have different inheritance patterns and may be relevant when one partner is a carrier.

Carrier screening can provide important information before conception, when couples have the greatest opportunity to consider their reproductive options.

Who should consider carrier screening?

Couples planning a pregnancy

Understand potential inherited risks before conception, even when there is no known family history of a genetic condition.

Couples undergoing IVF

Consider carrier screening as part of pre-conception assessment and fertility planning, particularly when inherited conditions may influence reproductive decisions.

Individuals with a family history of genetic disorders

If an inherited condition affects your family, targeted genetic testing may be more appropriate than routine carrier screening.

Couples from populations with a higher prevalence of particular inherited conditions

Certain genetic conditions are more common in particular ancestral populations. Personalised screening can help identify relevant risks.

Couples who would like more comprehensive reproductive screening

Expanded carrier screening can assess a wider range of inherited conditions, providing additional information for those who wish to explore their reproductive risks.

What conditions can carrier screening identify?

Depending on the screening panel selected, testing may include conditions such as:

  • Cystic fibrosis — an inherited condition affecting the lungs, digestive system and other organs.
  • Spinal muscular atrophy (SMA) — an inherited neuromuscular condition affecting muscle strength and movement.
  • Thalassaemia and sickle cell disease — inherited blood disorders.
  • Fragile X-related conditions — associated with variants in the FMR1 gene, including reproductive and developmental implications.
  • Other inherited conditions — selected through broader carrier screening panels based on clinical circumstances and individual preferences.

The exact conditions assessed depend on the laboratory test selected.

What happens if both partners are carriers?

Illustration of autosomal recessive inheritance when both parents are carriers

If both partners carry pathogenic variants associated with the same autosomal recessive condition, each pregnancy will generally have:

25%chance of an affected child
50%chance of an unaffected carrier
25%chance of a child who neither has the condition nor carries either familial variant

These probabilities apply separately to each pregnancy.

Where an increased reproductive risk is identified, we can discuss appropriate options, which may include natural conception with prenatal diagnostic testing, IVF with preimplantation genetic testing for monogenic conditions (PGT-M), or other reproductive choices.

Carrier screening options

We will help you choose the most appropriate test.

Targeted Carrier Screening

For patients with a known family history, a specific inherited condition or an established indication for testing.

Examples: targeted familial variants, cystic fibrosis, SMA and haemoglobinopathy testing.

From £560per test

Expanded Carrier Screening

For couples seeking broader reproductive screening across multiple inherited conditions, including more than 400 genes.

The exact panel, residual risks and clinical utility are explained before testing.

From £900more than 400 genes

Special price for couples

Couples planning a pregnancy

A special price is available for partnered reports for pre-conception testing.

Ask us about couple pricing ›

Our approach to carrier screening

  1. 1

    Personalised consultation

    We review your family history, reproductive plans and any previous genetic investigations.

  2. 2

    Selecting the appropriate test

    We explain the available carrier screening options and help you select a clinically appropriate panel.

  3. 3

    Simple sample collection

    Testing is usually performed using a blood or saliva sample, depending on the laboratory.

  4. 4

    Expert interpretation

    Your results are reviewed and explained in the context of your individual circumstances.

  5. 5

    Planning your next steps

    If a relevant genetic variant is identified, we discuss partner testing, reproductive implications and any further specialist assessment required.

Plan your pregnancy with greater understanding

Carrier screening cannot exclude every inherited condition, but it can provide valuable information to support reproductive planning.

At The Pregnancy Clinic, we combine modern genetic investigations with personalised clinical advice, helping you make informed decisions about your future family.

Have a question? Ask us

Send us a message and our team will reply during clinic hours. No booking or deposit needed.

    We provide planned appointments only. If you have pain, bleeding, contractions, leakage of fluid, reduced baby movements or any other urgent concern, please contact your local NHS maternity unit or Early Pregnancy Unit, NHS 111 or your GP, or attend A&E. In a life-threatening emergency, call 999.

    Prefer to speak to us?

    Our patient care team is happy to answer your questions and help you choose the right appointment.

    01732 647072Call us07572 929888Message us on WhatsAppcare@thepregnancyclinic.comEmail our care team

    Opening hoursTuesday 9am–8pm · Thursday 9am–5pm · Saturday 9am–7pm. Other days on request.

    Find usThe Highland Suite, Great Hollanden Business Centre, Mill Lane, Underriver, Sevenoaks, Kent TN15 0SQ
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    Map showing The Pregnancy Clinic at Great Hollanden Business Centre, between Sevenoaks and Hildenborough