Genetic prothrombotic mutations are common in neonates but are not associated with umbilical catheter-associated thrombosis

R. Turebylu, R. Salis, R. Erbe, D. Martin, Satyanarayana Lakshminrusimha, R. M. Ryan

Research output: Contribution to journalArticle

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Abstract

Objective: To evaluate the prevalence of hereditary prothrombotic mutations, and their effect on the incidence and severity of umbilical arterial or venous catheter (UAC or UVC)-associated thrombosis. Study Design: All neonates with a UAC or UVC were studied prospectively for the presence, severity and timing of thrombosis with duplex Doppler ultrasound scan. Genetic testing for factor V Leiden (FVL), prothrombin mutation (PTm) and methylene-tetrahydrofolate reductase (MTHFR) mutations was performed using PCR and restriction fragment length polymorphism assays. Result: Umbilical catheter (UC)-associated thrombosis developed in 16/53 (31%) neonates; 23% of UACs and 22% of UVCs were associated with thrombosis. The prevalence of a significant prothrombotic mutation was present in 10/51 (20%) of infants: FVL (8%), MTHFR667 homozygosity (10%), MTHFR1298 homozygosity (2%) and PTm (0%). There was no increase in the risk of UC-associated thrombus in patients carrying these prothrombotic mutations; our study had the power to detect a 2.5-fold increased risk of thrombosis for any of these significant mutations. In addition, MTHFR667 heterozygosity was found in 41% of infants and MTHFR1298 heterozygosity in 52% and also were not associated with increased risk of UC-associated thrombus. The risk of MTHFR double heterozygosity (db het) was 14%, the risk of a significant or db het was 17/51 (33%) and the risk of any mutation was 90%. Conclusion: Prothrombotic genetic mutations are common in our Neonatal Intensive Care Unit population but do not appear to increase the risk of UC-associated thrombosis.

Original languageEnglish (US)
Pages (from-to)490-495
Number of pages6
JournalJournal of Perinatology
Volume27
Issue number8
DOIs
StatePublished - Aug 1 2007
Externally publishedYes

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Umbilicus
Thrombosis
Catheters
Newborn Infant
Mutation
Methylenetetrahydrofolate Reductase (NADPH2)
Prothrombin
Doppler Ultrasonography
Neonatal Intensive Care Units
Genetic Testing
Restriction Fragment Length Polymorphisms
Polymerase Chain Reaction

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Obstetrics and Gynecology

Cite this

Genetic prothrombotic mutations are common in neonates but are not associated with umbilical catheter-associated thrombosis. / Turebylu, R.; Salis, R.; Erbe, R.; Martin, D.; Lakshminrusimha, Satyanarayana; Ryan, R. M.

In: Journal of Perinatology, Vol. 27, No. 8, 01.08.2007, p. 490-495.

Research output: Contribution to journalArticle

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title = "Genetic prothrombotic mutations are common in neonates but are not associated with umbilical catheter-associated thrombosis",
abstract = "Objective: To evaluate the prevalence of hereditary prothrombotic mutations, and their effect on the incidence and severity of umbilical arterial or venous catheter (UAC or UVC)-associated thrombosis. Study Design: All neonates with a UAC or UVC were studied prospectively for the presence, severity and timing of thrombosis with duplex Doppler ultrasound scan. Genetic testing for factor V Leiden (FVL), prothrombin mutation (PTm) and methylene-tetrahydrofolate reductase (MTHFR) mutations was performed using PCR and restriction fragment length polymorphism assays. Result: Umbilical catheter (UC)-associated thrombosis developed in 16/53 (31{\%}) neonates; 23{\%} of UACs and 22{\%} of UVCs were associated with thrombosis. The prevalence of a significant prothrombotic mutation was present in 10/51 (20{\%}) of infants: FVL (8{\%}), MTHFR667 homozygosity (10{\%}), MTHFR1298 homozygosity (2{\%}) and PTm (0{\%}). There was no increase in the risk of UC-associated thrombus in patients carrying these prothrombotic mutations; our study had the power to detect a 2.5-fold increased risk of thrombosis for any of these significant mutations. In addition, MTHFR667 heterozygosity was found in 41{\%} of infants and MTHFR1298 heterozygosity in 52{\%} and also were not associated with increased risk of UC-associated thrombus. The risk of MTHFR double heterozygosity (db het) was 14{\%}, the risk of a significant or db het was 17/51 (33{\%}) and the risk of any mutation was 90{\%}. Conclusion: Prothrombotic genetic mutations are common in our Neonatal Intensive Care Unit population but do not appear to increase the risk of UC-associated thrombosis.",
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AU - Lakshminrusimha, Satyanarayana

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N2 - Objective: To evaluate the prevalence of hereditary prothrombotic mutations, and their effect on the incidence and severity of umbilical arterial or venous catheter (UAC or UVC)-associated thrombosis. Study Design: All neonates with a UAC or UVC were studied prospectively for the presence, severity and timing of thrombosis with duplex Doppler ultrasound scan. Genetic testing for factor V Leiden (FVL), prothrombin mutation (PTm) and methylene-tetrahydrofolate reductase (MTHFR) mutations was performed using PCR and restriction fragment length polymorphism assays. Result: Umbilical catheter (UC)-associated thrombosis developed in 16/53 (31%) neonates; 23% of UACs and 22% of UVCs were associated with thrombosis. The prevalence of a significant prothrombotic mutation was present in 10/51 (20%) of infants: FVL (8%), MTHFR667 homozygosity (10%), MTHFR1298 homozygosity (2%) and PTm (0%). There was no increase in the risk of UC-associated thrombus in patients carrying these prothrombotic mutations; our study had the power to detect a 2.5-fold increased risk of thrombosis for any of these significant mutations. In addition, MTHFR667 heterozygosity was found in 41% of infants and MTHFR1298 heterozygosity in 52% and also were not associated with increased risk of UC-associated thrombus. The risk of MTHFR double heterozygosity (db het) was 14%, the risk of a significant or db het was 17/51 (33%) and the risk of any mutation was 90%. Conclusion: Prothrombotic genetic mutations are common in our Neonatal Intensive Care Unit population but do not appear to increase the risk of UC-associated thrombosis.

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