Clinical Impact of Heritable Thrombophilia on Neonatal-Onset Thromboembolism: A Nationwide Study in Japan

To clarify the incidence and genetic risk of neonatal-thromboembolism, we conducted a nationwide study exploring the impact of thrombophilia on neonatal-thromboembolism in Japan. A questionnaire survey was conducted for perinatal centers in Japan, focusing on the clinical expression, genotype, treat...

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Bibliographic Details
Published in:The Journal of pediatrics 2021-11, Vol.238, p.259-267.e2
Main Authors: Egami, Naoki, Ochiai, Masayuki, Ichiyama, Masako, Inoue, Hirosuke, Sonoda, Motoshi, Ishimura, Masataka, Suenobu, Souichi, Nishikubo, Toshiya, Ishiguro, Akira, Hotta, Taeko, Uchiumi, Takeshi, Kang, Dongchon, Ohga, Shouichi
Format: Article
Language:English
Subjects:
antithrombin
newborn infants
protein C
protein S
purpura fulminans
thrombophilia
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Summary:To clarify the incidence and genetic risk of neonatal-thromboembolism, we conducted a nationwide study exploring the impact of thrombophilia on neonatal-thromboembolism in Japan. A questionnaire survey was conducted for perinatal centers in Japan, focusing on the clinical expression, genotype, treatment, and outcome of patients who developed thromboembolism within 28 days of birth from 2014 to 2018. The estimated incidence of neonatal-thromboembolism was 0.39 cases per 10 000 live births. Intracranial lesions and purpura fulminans occurred in 66 and 5 of 77 patients, respectively. Fifty-eight (75.3%) infants presented within 3 days after birth. Four (5.2%) died, and 14 (18.2%) survived with disability. At the diagnosis,
ISSN:0022-3476
1097-6833
DOI:10.1016/j.jpeds.2021.07.001