Monogenic disorder | Approach to NIPD |
---|---|
Paternally inherited or de novo autosomal dominant disorders | |
Achondroplasia |
|
Apert syndrome | |
Early onset primary dystonia I | |
Thanatophoric dysplasia | |
Huntington's disease | Not fully accurate. Invasive testing recommended for diagnosis |
Autosomal recessive conditions where parents carry different altered alleles | |
α-thalassaemia |
|
β-thalassaemia | |
CAH | |
Cystic fibrosis | |
Leber congenital amaurosis | |
Propionic acidemia | |
Frasers syndrome | |
Autosomal recessive polycystic kidney disease | |
Autosomal recessive conditions where parents carry the same altered allele | |
Sickle cell anaemia | Estimation of allelic ratios required, so accurate estimation of fetal fraction needed. Currently can only be done using dPCR19 or NGS.20 21 Limited application in female fetuses as there is no reliable universal fetal DNA marker available. Y-chromosome sequences can be used in male-bearing pregnancies |
β-thalassaemia | |
X-linked conditions | |
Haemophilia | Estimation of allelic ratios required, so accurate estimation of fetal fraction required using Y-chromosome sequences.22 |
CAH, congenital adrenal hyperplasia; NGS, next-generation sequencing; NIPD, non-invasive prenatal diagnosis.