Prenatal genetic diagnosis: Fetal therapy as a possible solution to a positive test.
Journal
Acta bio-medica : Atenei Parmensis
ISSN: 2531-6745
Titre abrégé: Acta Biomed
Pays: Italy
ID NLM: 101295064
Informations de publication
Date de publication:
09 11 2020
09 11 2020
Historique:
received:
25
08
2020
accepted:
17
09
2020
entrez:
10
11
2020
pubmed:
11
11
2020
medline:
29
6
2021
Statut:
epublish
Résumé
Fetal abnormalities cause 20% of perinatal deaths. Advances in prenatal genetic and other types of screening offer great opportunities for identifying high risk pregnancies. Through a literature search, here we summarise what are the prenatal diagnostic technique that are being used and how those techniques may allow for prenatal interventions. Next generation sequencing and non-invasive prenatal testing are fundamental for clinical diagnostics because of their sensitivity and accuracy in identifying point mutations, aneuploidies, and microdeletions, respectively. Timely identification of genetic disorders and other fetal abnormalities enables early intervention, such as in-utero gene therapy, fetal drug therapy and prenatal surgery. Prenatal intervention is mainly focused on conditions that may cause death or lifelong disabilities, like spina bifida, congenital diaphragm hernia and sacrococcygeal teratoma; and may be an alternative therapeutic option to termination of pregnancy. However, it is not yet widely available, due to lack of specialized centers.
Sections du résumé
BACKGROUND
Fetal abnormalities cause 20% of perinatal deaths. Advances in prenatal genetic and other types of screening offer great opportunities for identifying high risk pregnancies.
METHODS
Through a literature search, here we summarise what are the prenatal diagnostic technique that are being used and how those techniques may allow for prenatal interventions.
RESULTS
Next generation sequencing and non-invasive prenatal testing are fundamental for clinical diagnostics because of their sensitivity and accuracy in identifying point mutations, aneuploidies, and microdeletions, respectively. Timely identification of genetic disorders and other fetal abnormalities enables early intervention, such as in-utero gene therapy, fetal drug therapy and prenatal surgery.
CONCLUSION
Prenatal intervention is mainly focused on conditions that may cause death or lifelong disabilities, like spina bifida, congenital diaphragm hernia and sacrococcygeal teratoma; and may be an alternative therapeutic option to termination of pregnancy. However, it is not yet widely available, due to lack of specialized centers.
Identifiants
pubmed: 33170180
doi: 10.23750/abm.v91i13-S.10534
pmc: PMC8023142
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
e2020021Références
Int J Mol Sci. 2019 Sep 07;20(18):
pubmed: 31500242
Diagnostics (Basel). 2019 Oct 02;9(4):
pubmed: 31581694
Int J Gen Med. 2018 Jul 03;11:265-274
pubmed: 30013381
J Pediatr Surg. 1993 Sep;28(9):1151-3
pubmed: 8308682
Nat Commun. 2018 Jun 26;9(1):2481
pubmed: 29946143
Pediatrics. 1972 Oct;50(4):515-25
pubmed: 4561295
Adv Drug Deliv Rev. 2017 Jul 1;116:63-72
pubmed: 27527665
PLoS One. 2015 Dec 15;10(12):e0144811
pubmed: 26669558
Childs Nerv Syst. 2007 Apr;23(4):421-5
pubmed: 17226038
Childs Nerv Syst. 2017 Jul;33(7):1081-1082
pubmed: 28550525
Clin Perinatol. 2003 Sep;30(3):493-506
pubmed: 14533891
Best Pract Res Clin Obstet Gynaecol. 2016 Feb;31:88-98
pubmed: 26483174
Dis Markers. 1998 Nov;14(3):151-4
pubmed: 10427473
Cell Transplant. 2011;20(7):1015-31
pubmed: 21092404
Nat Med. 2018 Sep;24(9):1317-1323
pubmed: 30013199
Rev Obstet Gynecol. 2013;6(2):48-62
pubmed: 24466384
Expert Rev Mol Diagn. 2018 Aug;18(8):689-699
pubmed: 29962246
Nature. 1993 Oct 7;365(6446):566-8
pubmed: 7692304
Nature. 2018 Jul;559(7714):313-314
pubmed: 30018442
Lancet. 1998 Nov 21;352(9141):1675-6
pubmed: 9853442
Semin Perinatol. 1995 Dec;19(6):462-73
pubmed: 8822330
F1000Res. 2019 May 31;8:
pubmed: 31214330
Ultrasound Obstet Gynecol. 2019 Oct;54(4):442-451
pubmed: 31124209
Otolaryngol Clin North Am. 2015 Feb;48(1):191-207
pubmed: 25442130
PLoS One. 2020 Aug 26;15(8):e0238245
pubmed: 32845907
Front Pharmacol. 2015 Mar 03;6:39
pubmed: 25784878
Stem Cells. 2019 Sep;37(9):1176-1188
pubmed: 31116895
Int J Mol Sci. 2019 Jul 11;20(14):
pubmed: 31336782
Prenat Diagn. 2018 Jan;38(1):10-19
pubmed: 28654730
Ultrasound Obstet Gynecol. 2013 Jan;41(1):26-32
pubmed: 23108725
Stem Cells. 2015 Jan;33(1):122-32
pubmed: 25186828
BMC Health Serv Res. 2017 Sep 19;17(1):670
pubmed: 28927451
Libyan J Med. 2007 Dec 01;2(4):190-201
pubmed: 21503244
Genet Med. 2016 Oct;18(10):1056-65
pubmed: 27467454
Mol Cytogenet. 2019 Nov 21;12:48
pubmed: 31832098
Cost Eff Resour Alloc. 2019 Mar 01;17:6
pubmed: 30867656
J Biotechnol. 2019 Jun 20;299:72-78
pubmed: 31054297
J Pediatr Rehabil Med. 2017 Dec 11;10(3-4):165-166
pubmed: 29154296
J Pediatr Surg. 1981 Dec;16(6):934-42
pubmed: 7200135
Pediatr Surg Int. 2014 Jul;30(7):689-97
pubmed: 24908159
Mol Ther. 2019 Apr 10;27(4):705-707
pubmed: 30837116
Curr Stem Cell Rep. 2018 Jun;4(2):182-187
pubmed: 30873337
Int J Mol Sci. 2019 Aug 14;20(16):
pubmed: 31416246
Prenat Diagn. 2008 Nov;28(11):1048-51
pubmed: 18973151
N Engl J Med. 2004 Jul 8;351(2):136-44
pubmed: 15238624
N Engl J Med. 2018 Apr 26;378(17):1604-1610
pubmed: 29694819
Fetal Diagn Ther. 2019;45(6):413-423
pubmed: 30130800
Lancet. 1997 Aug 16;350(9076):485-7
pubmed: 9274585
Am J Hum Genet. 2019 Dec 5;105(6):1091-1101
pubmed: 31708118
J Urol. 2011 Oct;186(4 Suppl):1581-5
pubmed: 21862080
Prenat Diagn. 2018 Nov;38(12):897-903
pubmed: 30171820
N Engl J Med. 2003 Nov 13;349(20):1916-24
pubmed: 14614166
Am J Med Genet C Semin Med Genet. 2016 Jun;172(2):123-7
pubmed: 27133782
Best Pract Res Clin Obstet Gynaecol. 2019 Jul;58:93-106
pubmed: 30772144
Bioinformatics. 2019 Apr 15;35(8):1284-1291
pubmed: 30219853
Transplantation. 2005 Jun 15;79(11):1607-14
pubmed: 15940052
Prenat Diagn. 2018 Jan;38(1):20-25
pubmed: 28695688
Prenat Diagn. 2015 May;35(5):440-6
pubmed: 25273838
N Engl J Med. 2011 Mar 17;364(11):993-1004
pubmed: 21306277
Neural Regen Res. 2019 Feb;14(2):260-261
pubmed: 30531007
N Engl J Med. 1990 May 31;322(22):1582-4
pubmed: 2336088
Orphanet J Rare Dis. 2012 Jan 03;7:1
pubmed: 22214468