-
Tytuł:
-
Application of chromosome microarray analysis and karyotyping in diagnostic assessment of abnormal Down syndrome screening results.
-
Autorzy:
-
Kang H; Prenatal diagnosis department, Chengdu Women's and Children's Central Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China.
Wang L; Prenatal diagnosis department, Chengdu Women's and Children's Central Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China.
Li X; Prenatal diagnosis department, Chengdu Women's and Children's Central Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China.
Gao C; Prenatal diagnosis department, Chengdu Women's and Children's Central Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China.
Xie Y; Prenatal diagnosis department, Chengdu Women's and Children's Central Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China.
Hu Y; Prenatal diagnosis department, Chengdu Women's and Children's Central Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China. .
-
Źródło:
-
BMC pregnancy and childbirth [BMC Pregnancy Childbirth] 2022 Nov 04; Vol. 22 (1), pp. 813. Date of Electronic Publication: 2022 Nov 04.
-
Typ publikacji:
-
Journal Article
-
Język:
-
English
-
Imprint Name(s):
-
Original Publication: London : BioMed Central, [2001-
-
MeSH Terms:
-
Down Syndrome*/diagnosis
Down Syndrome*/genetics
Chromosome Disorders*/diagnosis
Female ; Pregnancy ; Humans ; Karyotyping ; Microarray Analysis ; Prenatal Diagnosis/methods ; Aneuploidy ; DNA Copy Number Variations ; Chromosomes
-
References:
-
Cochrane Database Syst Rev. 2015 Nov 30;(11):CD011975. (PMID: 26617074)
Am J Obstet Gynecol. 2016 Sep;215(3):298-305. (PMID: 27131582)
Lancet. 1998 Aug 1;352(9125):343-6. (PMID: 9717920)
Acta Obstet Gynecol Scand. 2020 Jun;99(6):765-774. (PMID: 32306377)
Mol Cytogenet. 2016 Sep 07;9(1):69. (PMID: 27610202)
Eur J Pediatr. 2012 Mar;171(3):521-9. (PMID: 21997800)
Sichuan Da Xue Xue Bao Yi Xue Ban. 2021 Mar;52(2):319-325. (PMID: 33829709)
Biomed Res Int. 2019 Oct 03;2019:6504159. (PMID: 32908864)
Genet Med. 2020 Feb;22(2):245-257. (PMID: 31690835)
Sci Rep. 2021 Mar 10;11(1):5596. (PMID: 33692422)
BMJ. 1992 Apr 4;304(6831):867-9. (PMID: 1392745)
Prenat Diagn. 2015 Sep;35(9):879-87. (PMID: 26014106)
Am J Obstet Gynecol. 1984 Apr 1;148(7):886-94. (PMID: 6201071)
Obstet Gynecol. 2016 Dec;128(6):e262-e268. (PMID: 27875474)
Prenat Diagn. 1999 Jan;19(1):8-11. (PMID: 10073898)
Am J Obstet Gynecol. 2016 Oct;215(4):B2-9. (PMID: 27427470)
J Med Genet. 2016 Feb;53(2):73-90. (PMID: 26502893)
Genet Med. 2020 Jul;22(7):1133-1141. (PMID: 32296163)
Scand J Clin Lab Invest Suppl. 2014;244:41-7. (PMID: 25083892)
N Engl J Med. 2015 Dec 24;373(26):2581-2. (PMID: 26699181)
Cytogenet Genome Res. 2021;161(5):225-226. (PMID: 34407535)
N Engl J Med. 2012 Dec 6;367(23):2175-84. (PMID: 23215555)
Genet Med. 2013 Jun;15(6):478-81. (PMID: 23258348)
Mol Genet Genomic Med. 2019 Aug;7(8):e811. (PMID: 31209990)
Nature. 2011 Aug 31;478(7367):97-102. (PMID: 21881559)
Front Med (Lausanne). 2021 Oct 18;8:737936. (PMID: 34733861)
Ultrasound Obstet Gynecol. 1992 Sep 1;2(5):314-6. (PMID: 12796927)
Br J Psychiatry. 2019 May;214(5):297-304. (PMID: 30767844)
Obstet Gynecol. 2020 Oct;136(4):e48-e69. (PMID: 32804883)
Horm Res Paediatr. 2010;74(3):190-200. (PMID: 20431272)
-
Contributed Indexing:
-
Keywords: Chromosome microarray analysis; Down syndrome screening; Karyotyping; Nuchal translucency thickness; Prenatal diagnosis
-
Entry Date(s):
-
Date Created: 20221105 Date Completed: 20221108 Latest Revision: 20221108
-
Update Code:
-
20240105
-
PubMed Central ID:
-
PMC9635180
-
DOI:
-
10.1186/s12884-022-05139-3
-
PMID:
-
36333674
-
Background: Down syndrome (DS) is the most common congenital cause of intellectual disability and also leads to numerous metabolic and structural problems. This study aims to explore the application value of chromosomal microarray analysis (CMA) and karyotyping in prenatal diagnosis for pregnant women with abnormal DS screening results.
Methods: The study recruited 1452 pregnant women with abnormal DS screening results including 493 with an enlarged nuchal translucency thickness (NT ≥ 2.5 mm) and 959 with an abnormal second-trimester maternal serum biomarker screening results. They underwent amniocentesis to obtain amniotic fluid for CMA and karyotyping.
Results: CMA identified 74/1452 abnormal results, which was more efficient than karyotyping (51/1452, P < 0.05.) CMA is equivalent to traditional karyotyping for identifying aneuploidies. Compared to karyotyping CMA identified 1.90% more copy number variants (CNVs) ranging from 159Kb to 6496Kb. However, 34.4% of them were recurrent pathogenic CNVs associated with risk of neurodevelopmental disorders. CMA identified 13 variants of uncertain significance (VUS) results and 1 maternal uniparental disomy (UPD) of chromosome 7. Karyotyping identified 3 mosaic sex chromosome aneuploidy and 4 balanced translocation which could not be identified by CMA. In enlarged NT group, karyotyping identified 80.9% abnormal results while in serum screening group karyotyping identified 35.7%. However, the incidence of pathogenic/likely pathogenic (P/LP) CNVs was nearly the same in both groups. That was because aneuploidies and gross duplication/deletion were previously screened out by NT scan.
Conclusions: CMA and karyotyping have both advantages and disadvantages in prenatal diagnosis of pregnant women with abnormal DS screening results. However, there was not enough evidence to support routine CMA in pregnant women with abnormal DS screening results.
(© 2022. The Author(s).)
Zaloguj się, aby uzyskać dostęp do pełnego tekstu.
