Women for Referral to the Fetal Medicine Unit
The guidelines recommend management of common obstetric conditions at primary and referral level, based on local experience and evidence-based practice. They are not intended as strict protocols nor as standard operating procedures, but rather as a guide to safe effective management of common obstetric problems. The guidelines should be most useful to interns, medical officers and registrars.
The table below shows categories of women who may be referred to the Fetal Medicine Unit for genetic counseling, detailed scanning, & invasive tests if required. Refer women as early as possible in the pregnancy, to allow time for counseling & decisions, & for early diagnosis of any disorders. CVS is best done at 11-14 weeks & amniocentesis at 15-23 weeks.
Risk factors for genetic disorders and birth defects
| Women at risk | Invasive tests |
| Advanced maternal age (≥40 years) | CVS Amniocentesis |
| Three or more first trimester miscarriages | Parental blood Amniocentesis |
| Previous child with a genetic disorder/birth defect, or family members affected by a specific genetic disorder. | CVS Amniocentesis Cordocentesis |
| Exposure to teratogen drugs or toxins during pregnancy, e.g. warfarin, retinoids, alcohol, antiepileptic drugs, lithium | |
| Maternal infection during pregnancy | Maternal blood Cordocentesis |
| Maternal illness e.g. pregestational diabetes mellitus, congenital heart conditions, thyroid disease | |
| Couples in consanguineous relationships & women from ethnic groups at high risk for specific recessive disorders, e.g. Ashkenazy Jews (Tay-Sachs), Greeks & Cypriots (thalassaemia) & Central Africans (sickle cell disease) | Parental blood CVS Amniocentesis |