Prenatal Diagnosis of Chromosome 16p11.2 Microdeletion.
16p11.2 microdeletion
CMA
genetic counseling
prenatal diagnosis
Journal
Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097
Informations de publication
Date de publication:
08 12 2022
08 12 2022
Historique:
received:
06
11
2022
revised:
27
11
2022
accepted:
06
12
2022
entrez:
23
12
2022
pubmed:
24
12
2022
medline:
27
12
2022
Statut:
epublish
Résumé
(1) Objective: To investigate the prenatal diagnosis and genetic counseling for 16p11.2 microdeletion syndrome and to evaluate its pregnancy outcome. (2) Methods: This study included 4968 pregnant women who selected invasive prenatal diagnoses from 1 January 2017 to 1 August 2022. These 4698 pregnancies underwent chromosomal microarray analysis (CMA), data on 81 fetuses diagnosed with 16p11.2 microdeletion syndrome based on prenatal ultrasound features and genetic test results were recorded, and their pregnancy outcome was evaluated. (3) Results: 1.63% of fetuses (81/4968) were diagnosed with 16p11.2 microdeletion syndrome. Among these, there were skeletal malformations in 48.15% of the 81 fetuses, cardiovascular malformations in 30.86%, central nervous system malformations (CNS) in 11.11%, digestive system structural abnormalities in 6.17%, and isolated ultrasonography markers in 3.70%. (4) Conclusions: 16p11.2 microdeletion syndrome can display various systemic ultrasound abnormalities in the perinatal period but vertebral malformations are the most common. Our study is the first to report that
Identifiants
pubmed: 36553582
pii: genes13122315
doi: 10.3390/genes13122315
pmc: PMC9778018
pii:
doi:
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Références
Spine (Phila Pa 1976). 2010 Apr 20;35(9):983-8
pubmed: 20228709
J Neurodev Disord. 2010 Mar;2(1):26-38
pubmed: 21731881
Obstet Gynecol. 2016 Dec;128(6):e262-e268
pubmed: 27875474
J Med Genet. 2018 Apr;55(4):215-221
pubmed: 29496978
J Appl Genet. 2011 Nov;52(4):443-9
pubmed: 21931978
Am J Med Genet A. 2011 May;155A(5):1066-72
pubmed: 21465664
Clin Genet. 2001 Dec;60(6):409-16
pubmed: 11846732
J Child Neurol. 2015 Dec;30(14):1947-53
pubmed: 26391891
N Engl J Med. 2008 Feb 14;358(7):667-75
pubmed: 18184952
Biol Psychiatry. 2015 May 1;77(9):785-93
pubmed: 25064419
Genet Med. 2011 Jul;13(7):680-5
pubmed: 21681106
Am J Med Genet B Neuropsychiatr Genet. 2011 Mar;156(2):225-32
pubmed: 21302351
Hum Mol Genet. 2008 Feb 15;17(4):628-38
pubmed: 18156158
Am J Med Genet A. 2007 Jul 1;143A(13):1462-71
pubmed: 17568417
Am J Med Genet A. 2014 May;164A(5):1118-26
pubmed: 24458548
Nature. 2011 Aug 31;478(7367):97-102
pubmed: 21881559
J Med Genet. 2020 Jun;57(6):371-379
pubmed: 31888956
N Engl J Med. 2015 Jan 22;372(4):341-50
pubmed: 25564734
J Med Genet. 2010 May;47(5):332-41
pubmed: 19914906
Mol Psychiatry. 2020 Mar;25(3):584-602
pubmed: 30283035
Eur J Hum Genet. 2014 Mar;22(3):369-73
pubmed: 23860047
Prenat Diagn. 2018 May;38(6):381-389
pubmed: 29514395