We encourage GPs, midwives and obstetricians to contact us by phone or email to discuss referrals of pregnant women.
Women who are pregnant will either be seen in clinic or contacted by phone within a week of referral.
The following situations should prompt a referral
- A family or personal history of a genetic or suspected genetic disorder.
- A family or personal history of a balanced chromosome rearrangement (see explanation here).
- A chromosome abnormality detected by invasive prenatal diagnosis (except trisomy 13, 18 and 21 as these are currently dealt with by obstetrics and paediatrics).
- Patient requesting DNA /enzyme diagnosis for a known single gene disorder.
Fetal Medicine Clinic
We hold a weekly joint Fetal Medicine/Genetics Clinic at the Royal Victoria Infirmary, Newcastle upon Tyne.
This clinic is for women:
- having invasive testing for single gene disorders and familial chromosome rearrangements.
- who need detailed ultrasound scans during pregnancy because of a previously affected child with fetal abnormality.
- who are found to have an unusual/unexpected chromosome abnormality on amniocentesis
- who are found to have unexplained multiple congenital abnormalities on routine ultrasound scan for a diagnostic opinion.
Prenatal Diagnosis
Invasive testing for single gene disorders may or may not be possible depending upon whether or not the specific gene fault has been identified in the family.
It is preferable for the family to be seen in the genetics clinic before pregnancy to discuss this. If this is not possible they should be referred urgently as soon as the woman is known to be pregnant to have the best chance of being able to provide a DNA prenatal diagnosis.
The Genetics Department must have prior warning of any invasive DNA tests performed so that the laboratory performing the test is appropriately informed and prepared when the sample arrives
