Non-invasive prenatal diagnosis of single-gene disorders from maternal blood |
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Authors: | Bustamante-Aragonés Ana Rodríguez de Alba Marta Perlado Sara Trujillo-Tiebas María José Arranz Javier Plaza Díaz-Recasens Joaquín Troyano-Luque Juan Ramos Carmen |
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Affiliation: | 1. Genetics Service, Fundación Jiménez Diaz-IIS, Avda. Reyes Católicos, 2. 28040, Madrid, Spain;2. Gynecology &; Obstetrics Department, Fundación Jiménez Diaz-Capio, Avda. Reyes Católicos, 2. 28040, Madrid, Spain;3. Obstetrics &; Gynecology Department, University Hospital of Canary Islands, OFRA s/n 38002 Tenerife, Spain |
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Abstract: | Prenatal diagnosis (PD) is available for pregnancies at risk of monogenic disorders. However, PD requires the use of invasive obstetric techniques for fetal-sample collection and therefore, involves a risk of fetal loss. Circulating fetal DNA in the maternal bloodstream is being used to perform non-invasive prenatal diagnosis (NIPD). NIPD is a challenging discipline because of the biological features of the maternal blood sample. Maternal blood is an unequal mixture of small (and fragmented) amounts of fetal DNA within a wide background of maternal DNA. For this reason, initial NIPD studies have been based on the analysis of specific paternally inherited fetal tracts not present in the maternal genome so as to ensure their fetal origin. Following this strategy, different NIPD studies have been carried out, such as fetal-sex assessment for pregnancies at risk of X-linked disorders, RhD determination, and analysis of single-gene disorders with a paternal origin. The study of the paternal mutation can be used for fetal diagnosis of dominant disorders or to more accurately assess the risk of an affected child in case of recessive diseases. Huntington's disease, cystic fibrosis, or achondroplasia are some examples of diseases studied using NIPD. New technologies are opening NIPD to the analysis of maternally inherited fetal tracts. NIPD of trisomy 21 is the latest study derived from the use of next-generation sequencing (NGS). |
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Keywords: | PD, Prenatal diagnosis NIPD, Non-invasive prenatal diagnosis NGS, Next generation sequencing ccffDNA, circulating cell-free fetal DNA OMIM, Online Mendelian inheritance in man CVS, Chorion villus sampling QF-PCR, Quantitative fluorescent PCR MLPA, Multiplex ligation-dependent probe amplification SRY, sex-determining region Y PGD, Preimplantation genetic diagnosis CAH, Congenital adrenal hyperplasia FN, False negative RMD, Relative mutation dosage HD, Huntington's disease STR, Short tandem repeats DMR, Differentially methylated region Bp, Base pairs |
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