Information and guidance as to when a referral to the Prenatal Genetics clinic is appropriate. The information on these pages is aimed at healthcare professionals using the East Anglian Medical Genetics Service, covering Cambridgeshire, Peterborough, Norfolk and Suffolk.
Non-urgent advice: Patient or their partner is currently pregnant with the following indications:
- Family history of genetic disorder (single gene or chromosomal) in a close relative where information and advice regarding the condition, inheritance, recurrence risk and options/risks of prenatal diagnosis are being sought. These can also include undiagnosed suspected genetic disorders such as a severe developmental disorder in sibling or parent of the pregnancy. Not all ‘syndromes’ are genetic, e.g. Sjogren syndrome, Wolff-Parkinson-White syndrome, and so, please check with a senior member of your clinical team if you are uncertain
- Family history of a major congenital anomaly in a parent or sibling of the pregnancy, e.g. severe congenital heart anomaly, brain anomaly
- Single major congenital anomaly (e.g. severe intra-uterine growth restriction, cerebral ventriculomegaly, bilateral enlarged bright cystic kidneys) or multiple congenital anomalies detected in the fetus on prenatal scanning – these should be discussed with the on call Genetics team to be guided on initial genetic investigations upon invasive testing, if this is being sought by the couple
- Abnormal diagnostic genetic test results in the parents or from invasive prenatal testing
- Variant of uncertain significance detected upon invasive prenatal genetic testing
- No pathogenic variant (mutation) detected upon invasive prenatal genetic testing in a fetus highly suspected of having a genetic diagnosis
- Pregnancy confirmed as being exposed to known teratogens, e.g. alcohol, antiepileptic medication such as sodium valproate or carbamazepine, retinoids
Urgent advice: The following are NOT indications for a referral:
- Consanguinity in the couple in the absence of either a family history of a genetic disorder or anomalies detected on prenatal scan
- Jewish couple carrier testing for recessive Jewish disorders – this is available in the UK via the charity Jnetics
- To organise Non-Invasive Prenatal Diagnosis (NIPD) for a suspected condition due to antenatal scan abnormalities that fulfil criteria in the National Genomics Test Directory - these should be arranged by the local fetal medicine team
- To organise rapid fetal exome R21 testing – these should be arranged by the local fetal medicine team in discussion with the on call Genetics team
- To organise routine genetic testing within the scope of practice of the local fetal medicine team, e.g. CF carrier testing in couple for echogenic bowel in fetus
- Family history of:
- Direct-to-consumer (DTC) genetic results - We will only consider referrals for actionable DCT results in the fetus or parents which have been confirmed in an NHS accredited genomics laboratory or where there is a relevant family history
