Prenatal testing

Guidelines for prenatal diagnosis in recessive disorders

Requirements prior to offering prenatal testing:

• • Clinical or genetic diagnosis in proband (where possible)
    • Confirmation of pathogenic mutations in the couple considering prenatal diagnosis (by the laboratory that is to perform the prenatal test)
    • Work-up of informative markers using appropriate family members (where prenatal diagnosis is to be performed by linkage analysis)
    • Appropriate counselling

Requirements for prenatal testing:

Prior notice to testing laboratory (Cytogenetics and DNA) including family information/mutations identified/ report copies
Maternal sample to accompany ALL prenatal analysis for maternal cell contamination exclusion
Complete and clear labelling on tubes and referral cards (minimum 2 identifiers).

Reporting times:

Turnaround targets for prenatal diagnosis (in house):

• • 3 days where all samples, information and notice are provided
  • 5 days where any of the above are missing

Please note: samples sent to other UK labs or abroad may take longer to process.