Noninvasive prenatal diagnosis of congenital factor XIII deficiency in Iran.
Journal
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis
ISSN: 1473-5733
Titre abrégé: Blood Coagul Fibrinolysis
Pays: England
ID NLM: 9102551
Informations de publication
Date de publication:
01 Apr 2022
01 Apr 2022
Historique:
pubmed:
5
1
2022
medline:
7
6
2022
entrez:
4
1
2022
Statut:
ppublish
Résumé
Congenital factor (F) XIII deficiency is a rare coagulation factor deficiency that is inherited in an autosomal recessive manner. FXIII deficiency presents various clinical manifestations, such as intracranial hemorrhage (ICH), which is the most common cause of morbidity and mortality. As ICH can occur in the neonatal period, prenatal diagnosis (PND) is an effective way to reduce neonatal ICH and its associated fatal consequences. In this study, we investigated a noninvasive prenatal diagnosis (NIPD) method, cell-free fetal DNA (cffDNA), for PND in FXIII deficiency. This study was conducted on seven pregnant women in the first trimester. After extraction of cffDNA from maternal plasma, PCR-restriction fragment length polymorphism (PCR-RFLP) was performed to find the underlying F13A gene mutations previously identified in the family members. PCR-RFLP was also performed on postnatal DNA samples. Sanger sequencing was performed to confirm the results. Four cases were heterozygous for F13A gene mutations, whereas three were unaffected. PCR- RFLP results for cffDNA and postnatal DNA samples were identical, and Sanger sequencing confirmed the results. cffDNA is a noninvasive and effective method for PND in congenital FXIII deficiency.
Identifiants
pubmed: 34980832
doi: 10.1097/MBC.0000000000001121
pii: 00001721-202204000-00006
doi:
Substances chimiques
Factor XIII
9013-56-3
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
167-170Informations de copyright
Copyright © 2022 Wolters Kluwer Health, Inc. All rights reserved.
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