Genetic counselling in pregnancy: who needs it and what happens

Medically written by Dr. Sushma Dhakal, MBBS · MD (Obstetrics & Gynaecology) · Fellowship in Fetal Medicine · Updated 30 October 2026 · 3 min read

Genetic counselling is a calm, private conversation that helps you understand the chance of a genetic or chromosomal condition in your pregnancy, the tests available, and what the results could mean for your family. Its purpose is to give you clear information and support. Every decision remains yours.

Who may benefit?

A high-risk result on NT/combined screening or NIPT.
A finding on an ultrasound scan.
A previous pregnancy or child with a chromosomal, genetic or structural condition.
A family history of a genetic condition, such as thalassaemia, haemophilia, muscular dystrophy or intellectual disability.
Parents who are blood relatives (consanguineous marriage).
Recurrent miscarriages, or maternal age of 35 or more.
Couples planning a pregnancy who want to understand their risks in advance.

What happens in a session?

Your story: your pregnancy so far, test results and medical history.
Family tree: usually three generations, to look for inherited patterns.
Explaining the findings in simple language: what is known, what is uncertain, and what the numbers really mean.
Options: further tests, their accuracy, risks, timing and cost.
Next steps and support: a written plan and time for your questions. Your partner or family is welcome.

Screening tests vs diagnostic tests

Screening tests (combined test, NIPT) are safe for the pregnancy and estimate a chance. NIPT is highly accurate for Down syndrome, but a "high-risk" NIPT still needs confirmation. Diagnostic tests (CVS, amniocentesis) give a definite answer and carry a very small procedure risk. Genetic counselling helps you decide which test, if any, is right for you.

Understanding the results

Modern tests, such as chromosomal microarray or exome sequencing, can find more conditions, but they can also find "variants of uncertain significance" whose meaning is not yet known. Counselling before and after testing prepares you for these possibilities so that the results do not take you by surprise.

Thalassaemia and carrier testing

Thalassaemia is one of the most common inherited blood disorders in South Asia. If both parents are carriers, each pregnancy has a 1 in 4 chance of a baby with thalassaemia major. A simple blood test (CBC and HbA2 / haemoglobin electrophoresis) can identify carriers, ideally before or early in pregnancy, so that prenatal testing can be offered in time.

If a condition is confirmed

You will receive honest, compassionate information about what the condition means for your baby, treatment and support available after birth, and all your options, without pressure or judgement. Care is coordinated with paediatricians, surgeons and other specialists as needed, and future pregnancies can be planned with you.

Have questions about your pregnancy?

Book a consultation with Dr. Sushma Dhakal, Fellowship-trained fetal medicine specialist (FMF UK certified).

Book this scan Request Counselling

Frequently asked questions

Who needs genetic counselling in pregnancy?

Anyone with a high-risk screening result, a scan finding, a family history of a genetic condition, consanguineous marriage, recurrent miscarriage, or questions about genetic risk.

Will I be told what to decide?

No. Counselling gives clear information and support; every decision remains yours.

Is NIPT a diagnostic test?

No. NIPT is a highly accurate screening test; a high-risk result should be confirmed by CVS or amniocentesis.

Can thalassaemia be detected before birth?

Yes. If both parents are carriers, CVS or amniocentesis can test the baby. Carrier testing is a simple blood test.

This guide is for general information only and is not a substitute for personal medical advice. Every pregnancy is different. Please consult your doctor about your own situation. In an emergency, go to the nearest hospital.