A genetic risk assessment looks at your overall picture – family history, any previous pregnancies, and current screening or ultrasound findings – to understand what may be relevant to this pregnancy specifically. It also draws a clear line between two different things: a screening test estimates a chance, while a diagnostic test can confirm or rule a condition out. Knowing which one you’re looking at changes how a result should be read.
If a scan shows something unexpected, counselling for abnormal scans puts that finding in context – your baby’s gestational age, earlier scans, and pregnancy history all matter here. Not every unusual finding points to a genetic condition; some are isolated or need only a follow-up scan to clarify. Depending on what’s seen, your specialist may suggest a repeat or more detailed scan, a fetal echocardiogram, further genetic screening, or referral where appropriate.
A positive or high-risk screening result can feel alarming, but it is not a diagnosis. Counselling for positive screening tests walks through what the test actually assessed, how the reported risk should be read, and whether further testing would help – so you’re deciding from accurate information rather than the fear a number alone can create.
A genetic condition, a birth abnormality, or unexplained pregnancy losses somewhere in the family don’t automatically mean the same will happen in this pregnancy. Family history-based counselling looks closely at who was affected, how, and whether that pattern has any bearing on your current pregnancy – so the family history is understood accurately rather than assumed.
Genetic reports are often full of technical terms and statistics that are hard to read on your own. Interpretation of NIPT and genetic reports means going through your report together – what it screened for, whether it came back low- or high-risk, what it can and can’t tell you, and whether the result needs confirming with another test. Bring your full report to the appointment so nothing is missed.
With several types of prenatal tests available – first-trimester screening, NIPT, ultrasound-based screening, and diagnostic testing – it helps to know which one fits your situation and why. Guidance regarding prenatal genetic testing explains what each option can offer, so the choice of whether and how to test stays yours, made with full information rather than pressure.
A consultation may be worth booking if:
Not necessarily. NIPT is a screening test, not a diagnosis – a high-risk result means further evaluation may be worth discussing, not that the condition is confirmed.
Bring it to a consultation. Many findings need only a repeat or detailed scan to clarify, and your specialist can advise on whether any further testing is appropriate.
Screening estimates the chance of a condition; diagnostic testing can confirm or rule it out directly. Which one fits your situation is a personal decision made with your doctor.
Yes. The relevance depends on the specific condition, who in the family was affected, and how it’s inherited – this is worked through in detail during the consultation.
The information on this page is provided for general educational purposes and is not a substitute for professional medical advice, diagnosis or treatment. Every pregnancy is different, and the need for a particular ultrasound, test, monitoring schedule or treatment depends on individual clinical circumstances.
Ultrasound cannot detect every fetal condition, and results may be affected by gestational age, fetal position, image quality and other factors. Please consult a qualified obstetrician or fetal medicine specialist for advice specific to your pregnancy.