Prenatal diagnosis of a case with complete and uniform tetrasomy 12p by the utility of noninvasive prenatal testing.
Complete
NIPT
PKS
Prenatal diagnosis
Tetrasomy 12p
Uniform
Journal
Journal of assisted reproduction and genetics
ISSN: 1573-7330
Titre abrégé: J Assist Reprod Genet
Pays: Netherlands
ID NLM: 9206495
Informations de publication
Date de publication:
Sep 2023
Sep 2023
Historique:
received:
26
04
2023
accepted:
18
07
2023
pmc-release:
01
09
2024
medline:
22
8
2023
pubmed:
28
7
2023
entrez:
27
7
2023
Statut:
ppublish
Résumé
To report a rare type of Pallister-Killian syndrome (PKS) diagnosed prenatally by the utility of non-invasive prenatal testing (NIPT). NIPT was performed in the first trimester. Conventional karyotyping and chromosomal microarray analysis (CMA) were performed on the amniotic samples in the second trimester. Copy number variation sequencing (CNV-seq) was used for the validation of fetal skin and the placental tissue after pregnancy termination. NIPT results showed increased signal from chromosome 12p. Subsequent prenatal diagnostic testing by karyotype revealed 47, XY, +i (12p), and CMA displayed four copies of 12p: 12p13.33-12p11.1(173786_34835641) × 4. The CNV-seq results of the fetal skin and the fetal side of placenta showed four copies of 12p13.33-p11 and an estimated chimeric duplication of 34.08 Mb (chimerism ratio: 10%) in 12 p13.33-p11, respectively. However, no abnormality was detected by CNV-seq at the maternal side of placenta. Our findings suggest that a positive signal from chromosome 12p on NIPT should raise suspicion for PKS. With the wide application of NIPT, the true positive of incidental finding is expected to increase.
Identifiants
pubmed: 37501006
doi: 10.1007/s10815-023-02896-8
pii: 10.1007/s10815-023-02896-8
pmc: PMC10440312
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
2233-2240Subventions
Organisme : Project on Maternal and Child Health Talents of Jiangsu Province
ID : NO. F202120
Organisme : Lianyungang Science and Technology Bureau
ID : NO. SF2238
Informations de copyright
© 2023. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.
Références
J Med Genet. 1995 Jan;32(1):68-71
pubmed: 7897632
Mol Cytogenet. 2018 Aug 17;11:45
pubmed: 30140312
Epigenetics. 2016 Mar 3;11(3):194-204
pubmed: 26890086
Am J Med Genet A. 2012 Dec;158A(12):3046-53
pubmed: 23169773
J Cell Mol Med. 2021 Sep;25(18):8929-8935
pubmed: 34405543
J Med Genet. 2015 Jul;52(7):454-64
pubmed: 25888713
Transl Pediatr. 2022 Jan;11(1):85-98
pubmed: 35242654
Clin Genet. 1996 Jul;50(1):41-6
pubmed: 8891385
Am J Hum Genet. 2019 Dec 5;105(6):1091-1101
pubmed: 31708118
Ultrasound Obstet Gynecol. 2016 Jan;47(1):53-7
pubmed: 26033469
Am J Med Genet A. 2012 Dec;158A(12):3002-17
pubmed: 23169767
Am J Obstet Gynecol. 2014 Nov;211(5):527.e1-527.e17
pubmed: 25111587
Birth Defects Orig Artic Ser. 1977;13(3B):103-110
pubmed: 890087
Am J Med Genet A. 2012 Dec;158A(12):3033-45
pubmed: 23169682
Am J Med Genet A. 2018 Dec;176(12):2575-2586
pubmed: 30289601
Clin Genet. 1997 Feb;51(2):102-8
pubmed: 9111997
Ultrasound Obstet Gynecol. 2015 Mar;45(3):249-66
pubmed: 25639627
Prenat Diagn. 2020 Jul;40(8):1005-1012
pubmed: 32350887
Clin Genet. 2019 Jan;95(1):79-84
pubmed: 29790157
Cell. 2018 Oct 4;175(2):347-359.e14
pubmed: 30290141
Prenat Diagn. 2002 Jun;22(6):470-7
pubmed: 12116305
Prenat Diagn. 2017 May;37(5):446-452
pubmed: 28233318
J Histochem Cytochem. 2005 Mar;53(3):361-4
pubmed: 15750020
Prenat Diagn. 2004 Dec 15;24(12):984-8
pubmed: 15614858
N Engl J Med. 2018 Aug 2;379(5):464-473
pubmed: 30067923
Am J Med Genet C Semin Med Genet. 2014 Dec;166C(4):406-13
pubmed: 25425112
Am J Hum Genet. 2022 Jun 2;109(6):1140-1152
pubmed: 35659929
Hum Genomics. 2020 Jun 5;14(1):21
pubmed: 32503639
Prenat Diagn. 2013 Jun;33(6):584-90
pubmed: 23592436
Mol Genet Genomic Med. 2019 Oct;7(10):e00939
pubmed: 31454185