Original Article

Journal of Perinatology (2007) 27, 490–495; doi:10.1038/sj.jp.7211786; published online 12 July 2007

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

R Turebylu1, R Salis2, R Erbe2, D Martin3, S Lakshminrusimha1 and R M Ryan1,4,5

  1. 1Division of Neonatology, Department of Pediatrics, State University of New York at Buffalo, Women and Children's Hospital of Buffalo, Buffalo, NY, USA
  2. 2Division of Genetics, Department of Pediatrics, State University of New York at Buffalo, Women and Children's Hospital of Buffalo, Buffalo, NY, USA
  3. 3Department of Radiology, State University of New York at Buffalo, Women and Children's Hospital of Buffalo, Buffalo, NY, USA
  4. 4Department of Pathology and Anatomical Sciences, State University of New York at Buffalo, Women and Children's Hospital of Buffalo, Buffalo, NY, USA
  5. 5Department of Gynecology-Obstetrics, State University of New York at Buffalo, Women and Children's Hospital of Buffalo, Buffalo, NY, USA

Correspondence: Dr RM Ryan, Chief, Division of Neonatology, State University of New York at Buffalo, Women and Children's Hospital of Buffalo, 219 Bryant Street, Buffalo, NY 14222-2006, USA. E-mail: rryan@upa.chob.edu

Received 27 October 2006; Accepted 18 May 2007; Published online 12 July 2007.

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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.

Keywords:

umbilical catheter, thrombosis, duplex Doppler ultrasound, factor V Leiden, methylene-tetrahydrofolate reductase mutation, prothrombin 20210 G>A mutation

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