Genetic Tests
Genetics in Pregnancy
Prenatal genetic testing is a proactive step built on prevention, clear information and medical responsibility — giving you time, certainty and support at the moment they matter most.
Who it is for
Who should consider genetic testing during pregnancy?
Prenatal genetics is appropriate for every pregnancy, and particularly valuable in the situations below.
Every expectant mother, at any age — prenatal screening is now part of routine pregnancy care.
Couples who have experienced pregnancy loss or who have a child with a genetic condition.
Women with a personal or family history of inherited disease.
Mothers aged 35 and over, where the chance of chromosomal conditions is higher.
Pregnancies flagged as higher risk by first- or second-trimester screening results.
Couples who are blood relatives (consanguineous partners).
Women with recurrent miscarriage or a history of infertility.
Couples who are both healthy carriers of the same genetic variant.
Embryo testing as part of an IVF treatment pathway.
Why it matters
Why is genetic testing important?
Early detection, before birth
Identifies chromosomal conditions such as Down, Edwards and Patau syndromes, inherited disorders such as cystic fibrosis and thalassaemia, and sex chromosome aneuploidies including Turner and Klinefelter syndromes.
Informed medical decisions
Results guide any further investigations and shape how the pregnancy and delivery are managed if your baby will need specialist care.
Less uncertainty, less anxiety
A reassuring result brings peace of mind. If something is found, you have time to prepare rather than being told late.
A pregnancy plan built around you
Monitoring intervals and any medical interventions are tailored to your individual findings.
Information for the wider family
Some results are relevant to future pregnancies and to relatives who may carry the same risk.
Our tests
Genetic tests we offer
Three complementary pathways — screening, diagnosis and parental carrier testing — chosen according to your stage of pregnancy and history.
Non-invasive prenatal testing (NIPT)
A simple maternal blood sample is analysed for cell-free fetal DNA circulating in your bloodstream — no risk to you or your baby.
- Available from week 10 of pregnancy
- Accuracy above 99% for the main trisomies
- Screens trisomy 21, 18 and 13 and sex chromosome aneuploidies
- Results reported with genetic counselling included
Invasive diagnostic testing
Where a definitive answer is needed, fetal cells are sampled by chorionic villus biopsy (weeks 10–13) or amniocentesis (weeks 15–20) and analysed in our genomics laboratory.
- Classical karyotype — culture and chromosome analysis to detect numerical and structural changes
- Array CGH (molecular karyotype) — submicroscopic imbalances and copy number variants linked to developmental delay, autism spectrum disorders and congenital anomalies
- Targeted molecular testing for specific inherited conditions
- Confirms or excludes a suspected diagnosis
Carrier screening for prospective parents
Recommended before conception or in early pregnancy, carrier screening shows whether you and your partner carry the same recessive variant.
- Expanded carrier screen covering 420 genes
- Ideal before conception or in the first weeks
- Clarifies the chance of passing a condition to your baby
- Joint counselling for both partners
Good to know: NIPT is available at every Hilmi Lab centre, poses no risk to the pregnancy and is more than 99% accurate. A low-risk result gives parents genuine emotional reassurance for the months ahead.
Timing
When is genetic testing recommended?
The right test depends on gestational age, your personal and family history, ultrasound and screening findings, and any additional risk factors.
Before pregnancy or in the first trimester
- Carrier screening for both partners
- Genetic evaluation — counselling plus constitutional karyotype where there is a personal or family history
Weeks 10–13 (first trimester)
- NIPT analysis of cell-free fetal DNA from a maternal blood sample
Weeks 14–20 (second trimester)
- Genetic analysis of amniotic fluid obtained by amniocentesis
At any point, if risk factors are present
- Maternal age over 35
- Fetal anomalies seen on ultrasound
- A previous pregnancy affected by a genetic condition
- Recurrent pregnancy loss
- Family history of inherited disease
Why us
Why choose Hilmi Lab
Safe, fast, precise
Validated prenatal platforms with strict quality thresholds at every stage.
Specialist interpretation
Every report is reviewed and signed by consultants in medical genetics.
Personalised counselling
Dedicated pre- and post-test sessions for both parents, without rush.
Wide collection network
Sample collection across our centres in London, Bucharest and Munich.
Complete confidentiality
Full GDPR compliance and results delivered to your private portal.
FAQ
Frequently asked questions
Is NIPT safe for my baby?
Yes. NIPT requires only a blood sample from your arm and carries no risk of miscarriage, because nothing is taken from the pregnancy itself.
How early can testing be done?
Carrier screening can be done before conception. NIPT is available from week 10, chorionic villus sampling between weeks 10 and 13, and amniocentesis between weeks 15 and 20.
Is a screening result the same as a diagnosis?
No. Screening tests such as NIPT estimate risk with very high accuracy but do not confirm a diagnosis. A high-risk result is confirmed with a diagnostic test such as amniocentesis or CVS.
What does a low-risk result mean?
It means no increased likelihood of the conditions screened was detected. For most parents this brings considerable reassurance for the rest of the pregnancy.
Do we both need carrier screening?
Recessive conditions only affect a baby when both parents carry a variant in the same gene, so testing both partners gives the clearest picture of risk.
Is genetic counselling included?
Yes. Counselling before and after testing is part of every prenatal genetics pathway at Hilmi Lab, in English, Romanian and German.
Next step
Book your genetic consultation
Speak with a clinical geneticist about the right pathway for your pregnancy — before, during or after testing.