Prenatal genetic diagnosis of monogenic diseases.
genetic counseling
molecular techniques
monogenic diseases
prenatal genetic diagnostics
recommendations
Journal
Advances in laboratory medicine
ISSN: 2628-491X
Titre abrégé: Adv Lab Med
Pays: Germany
ID NLM: 9918284273306676
Informations de publication
Date de publication:
Apr 2023
Apr 2023
Historique:
received:
18
08
2023
accepted:
04
12
2023
medline:
26
6
2023
pubmed:
26
6
2023
entrez:
26
6
2023
Statut:
epublish
Résumé
Prenatal genetic diagnosis of monogenic diseases is a process involving the use of a variety of molecular techniques for the molecular characterization of a potential monogenic disease in the fetus during pregnancy. Prenatal genetic diagnosis can be performed through invasive and non-invasive methods. A distinction must be made between "NIPD" (non-invasive prenatal diagnosis), which is considered to be diagnostic, from "NIPT" (non-invasive prenatal test), which is a screening test that requires subsequent confirmation by invasive methods. The different techniques currently available aim at detecting either, previously characterized pathogenic mutations in the family, the risk haplotype associated with the familial mutation, or potential pathogenic mutation(s) in a gene associated with a diagnostic suspicion. An overview is provided of relevant aspects of prenatal genetic diagnosis of monogenic diseases. The objective of this paper is to describe the main molecular techniques currently available and used in clinical practice. A description is provided of the indications, limitations and analytical recommendations regarding these techniques, and the standards governing genetic counseling. Continuous rapid advances in the clinical applications of genomics have provided increased access to comprehensive molecular characterization. Laboratories are struggling to keep in pace with technology developments.
Identifiants
pubmed: 37359899
doi: 10.1515/almed-2023-0024
pii: almed-2023-0024
pmc: PMC10197187
doi:
Types de publication
Journal Article
Langues
eng
spa
Pagination
28-51Informations de copyright
© 2023 the author(s), published by De Gruyter, Berlin/Boston.
Déclaration de conflit d'intérêts
Conflict of interest: The authors declare no conflict of interest.
Références
J Mol Biol. 1975 May 25;94(3):441-8
pubmed: 1100841
Transfusion. 2018 Oct;58(10):2272-2279
pubmed: 30222855
Eur J Obstet Gynecol Reprod Biol. 2018 Jun;225:5-8
pubmed: 29626711
Rev Derecho Genoma Hum. 2007 Jan-Jun;(26):283-325
pubmed: 18201045
Prenat Diagn. 2018 Jan;38(1):6-9
pubmed: 29315690
Nat Rev Genet. 2016 Sep 15;17(10):643-56
pubmed: 27629932
Comput Struct Biotechnol J. 2020 Sep 14;18:2463-2470
pubmed: 33005308
Biotechniques. 1992 Sep;13(3):444-9
pubmed: 1389177
Clin Chim Acta. 2013 Sep 23;424:222-30
pubmed: 23727028
Prenat Diagn. 2013 Jul;33(7):662-6
pubmed: 23553731
Semin Fetal Neonatal Med. 2018 Apr;23(2):94-101
pubmed: 29305293
Prenat Diagn. 2018 Jan;38(1):10-19
pubmed: 28654730
Ultrasound Obstet Gynecol. 2013 Jan;41(1):26-32
pubmed: 23108725
Obstet Gynecol. 2016 Dec;128(6):e262-e268
pubmed: 27875474
Nucleic Acids Res. 2002 Jun 15;30(12):e57
pubmed: 12060695
Minerva Ginecol. 2018 Apr;70(2):215-219
pubmed: 29161799
Ultrasound Obstet Gynecol. 2015 Jan;45(1):16-26
pubmed: 25042845
PLoS One. 2012;7(12):e51024
pubmed: 23236420
Eur J Hum Genet. 2009 Jan;17(1):51-65
pubmed: 18685558
Hum Mutat. 2017 Aug;38(8):905-911
pubmed: 28512758
Clin Chem. 2013 Aug;59(8):1228-37
pubmed: 23603797
Diagnosis (Berl). 2015 Sep 1;2(3):141-158
pubmed: 29540035
Am J Obstet Gynecol. 2016 Aug;215(2):227.e1-227.e16
pubmed: 26899906
J Mol Diagn. 2020 Sep;22(9):1151-1161
pubmed: 32553884
Lancet. 2019 Feb 23;393(10173):747-757
pubmed: 30712880
J Med Genet. 1996 Dec;33(12):1022-6
pubmed: 9004136
Am J Hum Genet. 2017 Feb 2;100(2):267-280
pubmed: 28132688
Genet Med. 2012 Aug;14(8):759-61
pubmed: 22863877
Anal Bioanal Chem. 2009 May;394(2):457-67
pubmed: 19288230
Gene. 2012 Aug 1;504(1):144-9
pubmed: 22561692
Anal Biochem. 1997 Feb 15;245(2):154-60
pubmed: 9056205
PLoS One. 2016 Apr 14;11(4):e0153258
pubmed: 27078875
Prenat Diagn. 2016 Apr;36(4):312-20
pubmed: 26824862
Eur J Obstet Gynecol Reprod Biol. 2020 Oct;253:320-327
pubmed: 32907778
Curr Protoc Hum Genet. 2001 May;Chapter 9:Unit 9.8
pubmed: 18428319
An Sist Sanit Navar. 2008;31 Suppl 2:9-20
pubmed: 18953369
Proc Natl Acad Sci U S A. 1991 Aug 15;88(16):7276-80
pubmed: 1871133
Eur J Hum Genet. 2014 Feb;22(2):160-70
pubmed: 23942201
Clin Chem. 2015 Nov;61(11):1399-407
pubmed: 26354802
Eur J Hum Genet. 2020 Sep;28(9):1141-1159
pubmed: 32424326
Front Pediatr. 2022 Jan 27;10:812781
pubmed: 35155308
Cuad Bioet. 2010 Sep-Dec;21(73):299-312
pubmed: 21090842
Prenat Diagn. 2015 Oct;35(10):1010-7
pubmed: 26275891
Clin Genet. 2013 Jan;83(1):53-65
pubmed: 22283495
Genet Med. 2018 Nov;20(11):1430-1437
pubmed: 29595812