June 20, 2024

Everyone deserves a healthy baby

Carrier screening for LGBTQ+ couples: options and considerations

Family planning can be a deeply personal journey for LGBTQ+ couples, often involving unique challenges and considerations like the need for assisted reproductive technologies such as IVF and IUI, surrogacy, and donor gametes.

One crucial aspect of this journey is ensuring the health of future children through comprehensive carrier screening, which may not always be offered.

At HNL Lab Medicine, we understand the importance of providing accessible, accurate genetic testing to help all couples make informed decisions about their reproductive options. Our services are designed to help LGBTQ+ couples achieve their family planning goals with confidence and clarity through precise genetic testing.


What is carrier screening?

Carrier screening is used to check for genetic disorders that may be present in either reproductive partner. It involves the use of a blood test to see if a person “carries” a genetic variation associated with a specific disease or trait.

These genetic variations are passed onto a person by their parents. Carrier screening is used to look for recessively inherited diseases, which means the suspected carrier has no symptoms of the disease.

However, if both reproductive partners are carriers for the same genetic disease, it can be passed onto their children and cause symptoms. Some of these genetic diseases include sickle cell disease, thalassemia, cystic fibrosis, and spinal muscular atrophy.


Why is it relevant to me?

If an individual carries a disease-causing DNA variant , their children may be susceptible to developing a genetic disorder. The majority of genetic disorders targeted by carrier screening are recessive. For a child to be at risk of inheriting a recessive genetic disorder, both partners must be carriers of the same recessive genetic disorder.

Some genetic disorders, however, are X-linked. X-linked disorders are caused by variants in genes on the X chromosome, one of the two sex chromosomes in each cell.

In genetic males (who have only one X chromosome), an alteration in the only copy of a gene located on the X chromosome in each cell is sufficient to cause the condition.

In genetic females (who have two X chromosomes), one altered copy of  a gene located on the X chromosome usually leads to less severe health problems than those in affected males, or it may cause no signs or symptoms at all.

A characteristic of X-linked inheritance is that genetic males cannot pass X-linked traits to their sons (no male-to-male transmission).In the case of a woman being a carrier of an X-linked genetic disorder, each pregnancy carries a potential risk of up to 1 in 2 (50%) chance of being affected by the X-linked genetic disorder.


What does carrier screening detect?

HNL Lab Medicine offers carrier screening for 46 recessive and X-linked genetic disorders. Some of the most common conditions include cystic fibrosis, spinal muscular atrophy, Fragile X, and sickle cell disease, which are included in our common carrier screening panel.

HNL Lab Medicine also offers an extended carrier screening panel which includes 29 additional genes. For those wishing to test for a specific condition, we offer single gene carrier screening tests.


What if my results are positive?

Being aware of your carrier status can help you make informed decisions regarding pregnancy planning. Your healthcare provider may refer you to a genetic counselor to assess your family history in more detail and determine if additional genetic testing is necessary.

HNL Lab Medicine supports couples by offering no-cost carrier screening for the same disorder in their reproductive partner if one partner tests positive. This helps to assess risk and make informed decisions.

If both reproductive partners are carriers of the same autosomal recessive condition, there is a 1 in 4 (25%) chance of having an affected child in each pregnancy. Discuss the implications of your results with your genetic counselor to explore further testing or alternative reproductive options.


How can I get tested?

Discuss carrier screening with your doctor or genetic counselor. Once you and your healthcare provider decide on which carrier screening tests to pursue, your provider will place an order for these tests. You can then go to any HNL Lab Medicine Patient Service Center to have your blood drawn.

Results for carrier screening are available within 7-14 days and can be accessed on MyHNLAccess.com, the HNL Lab Medicine patient portal.


Choose HNL Lab Medicine

Our lab understands your situation and unique needs. Carrier screening is a crucial component of family planning, especially for LGBTQ+ couples looking to ensure the health and well-being of their future children.

By identifying potential genetic risks early, couples can make informed decisions with the guidance of healthcare professionals and genetic counselors.

At HNL Lab Medicine, we are dedicated to providing comprehensive, accessible carrier screening options tailored to your needs. Embrace the opportunity to safeguard your family’s future by exploring carrier screening with us today.


¹ National Library of Medicine. (2021, April 19). What are the different ways a genetic condition can be inherited? National Institutes of Health. https://medlineplus.gov/genetics/understanding/inheritance/inheritancepatterns/.