How different results are interpreted

Both reports show one pathogenic HBB variant each.

When both partners carry a pathogenic variant in the same recessive gene, each pregnancy carries a 25% chance of an affected child, a 50% chance of a carrier child, and a 25% chance of a child with neither copy. Counseling covers the clinical picture, prenatal diagnosis, IVF with PGT-M, and follow-up with a hematologist. The decision belongs to the couple; NAWA's role is to make the numbers and options clear.

Both partners are beta-thalassemia carriers.

A shared carrier result does not mean a couple cannot have children. Counseling in this scenario reviews two documented pathways: natural conception with prenatal diagnosis, or IVF with preimplantation genetic testing for a known monogenic condition. Both are established options in Saudi Arabia and both are discussed with an obstetric and genetics team before any decision.

Both partners carry a severe CFTR variant.

Cystic fibrosis affects the lungs and pancreas from early life and requires lifelong care. Some couples in this situation proceed with a reproductive plan; others decide not to marry. Both are legitimate outcomes of the same information. Counseling is non-directive: the clinical facts, the reproductive options, and the support available are laid out, and the couple decides in their own time.

Both partners carry a pathogenic HEXA variant.

Classic Tay-Sachs disease has no curative treatment and life expectancy is limited to early childhood. This is one of the findings where counseling time matters most: families are usually involved, decisions take weeks rather than days, and NAWA does not recommend a course of action. What the test changes is that the conversation happens before marriage rather than after a diagnosis.

Both partners carry a GJB2 variant.

Not every shared carrier result describes a severe illness. GJB2-related deafness raises the probability that a child is Deaf; it does not shorten life or require medical treatment. Preparation — early hearing assessment, sign language, audiology follow-up — is usually the practical outcome. Naming the difference between severity levels is a core part of interpreting a couple report.

The female partner carries a G6PD variant on one X chromosome.

X-linked inheritance behaves differently from recessive inheritance: sons of a carrier mother have roughly a 50% chance of being affected, while daughters are at most carriers. The practical output is a list of foods and medications to avoid and a note in the newborn's paediatric file — a manageable finding, but only if it is known in advance.

One BCKDHA variant in one partner; none in the other.

A recessive condition requires a pathogenic variant from both parents. When only one partner carries it, children may inherit carrier status but cannot develop the condition from this couple. This is the most common reassuring result pattern, and it is also the reason carrier status alone should never be read as bad news.

A pathogenic BRCA1 variant in one partner.

Dominant adult-onset findings are reported only when the person has opted in to secondary findings. One copy is enough to raise lifetime cancer risk, but risk is not diagnosis. The clinical response is a surveillance plan agreed with an oncology service — earlier imaging, defined intervals, and a discussion of preventive options at the appropriate age.

A pathogenic MLH1 variant in one partner.

Lynch syndrome raises the risk of colorectal and other cancers and often explains a pattern of early cancers in a family. Guidelines move colonoscopy screening decades earlier for carriers. Children of a carrier have a 50% chance of inheriting the variant, which is why this type of finding is usually discussed as a family matter, not an individual one.

One CFTR variant in one partner; none in the other.

Carrier status in one partner alone does not create risk of an affected child in this couple. What it does create is information for the next generation: children who inherit the variant should know their carrier status before their own marriage. Reports state this explicitly so the information is not lost.