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 retardation, 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
