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NIPT and NIPD (NIPD (Fetal sexing (Interpretation of results (SRY present…

- - - - CAH = AR and if fetus female, treatment during pregnancy can reduce virilisation in future
    - - SRY analysis with CCR5 Control gene
    - - SRY present (7/8 out of 8 runs) = male
      - SRY absent (0/8) = female
      - Anything else, repeat sample
  - - - Alpha/beta thalassaemia
      - Sickle cell
      - CF
      - HD
      - SMA
    - - Detection of paternal/de novo mutations in cffDNA
      - Develop assay prior to pregnancy
      - Targeted amplicon enrichment
- - - - Maternal BMI
      - Smoking
      - Drugs
      - Ethnicity
      - Fetal aneuploidy
      - Maternal hypertension
    - - Maternal blood can be taken in EDTA (>1d)in a cell stabilising tube (Streck(>5d))
        
        Streck tubes needed as if sample is left, maternal cells will begin to lyse and decrease the concentration of fetal DNA
- - - - Compare individual sequenced chromosomes against a reference
    - - Shotfun sequencing at very low depths
    - - Only sequencing specific chromosomes
  - - - T21 = 99%
      - T18 = 97%
      - T13 = 97%
    - - T21 = 99.9%
      - T13 = 99.9%
      - T18 = 99.9%
  - - - Follow up with an amnio