Application of droplet digital PCR for non-invasive prenatal diagnosis of single gene disease in two families.
- Author:
Peiwen XU
1
;
Yang ZOU
;
Jie LI
;
Sexin HUANG
;
Ming GAO
;
Ranran KANG
;
Hongqiang XIE
;
Lijuan WANG
;
Junhao YAN
;
Yuan GAO
Author Information
- Publication Type:Journal Article
- MeSH: Fathers; Female; Genetic Diseases, Inborn; diagnosis; Humans; Male; Maternal Serum Screening Tests; Mutation; Polymerase Chain Reaction; methods; Prenatal Diagnosis; methods; Sequence Analysis, DNA
- From: Chinese Journal of Medical Genetics 2018;35(2):224-227
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo assess the value of droplet digital PCR (ddPCR) for non-invasive prenatal diagnosis of single gene disease in two families.
METHODSPaternal mutation in cell-free DNA derived from the maternal blood and amniotic fluid DNA was detected by ddPCR. Suspected mutation in the amniotic fluid DNA was verified with Sanger sequencing.
RESULTSThe result of ddPCR and Sanger sequencing indicated that the fetuses have carried pathogenic mutations from the paternal side in both families.
CONCLUSIONDroplet digital PCR can accurately detect paternal mutation carried by the fetus, and it is sensitive and reliable for analyzing trace samples. This method may be applied for the diagnosis of single gene diseases caused by paternal mutation using peripheral blood sample derived from the mother.
