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Updated: Aug 24, 2026

Fetal Echocardiography and Pulsed-wave Doppler Ultrasound in a Rabbit Model of Intrauterine Growth Restriction
14:19

Fetal Echocardiography and Pulsed-wave Doppler Ultrasound in a Rabbit Model of Intrauterine Growth Restriction

Published on: June 29, 2013

Intrauterine growth restriction and genetic predisposition to thrombophilia

Franca Franchi1, Irene Cetin, Tullia Todros

  • 1Angelo Bianchi Bonomi Haemophilia and Thrombosis Centre and Department of Internal Medicine, IRCCS Maggiore Hospital, University of Milan, Italy.

Haematologica
|April 13, 2004
PubMed

Insights

This study found no link between intrauterine growth restriction and common thrombophilic gene variations in mothers or newborns. Further research is needed to understand the causes of fetal growth restriction.

Area of Science:

  • Perinatal medicine
  • Genetics
  • Obstetrics

Background:

  • Intrauterine growth restriction (IUGR) is a significant contributor to perinatal morbidity and mortality.
  • The exact causes of IUGR remain unclear and are a subject of ongoing research.
  • Thrombophilic polymorphisms are genetic factors that can influence blood clotting and may play a role in pregnancy complications.

Purpose of the Study:

  • To investigate the potential association between IUGR, characterized by abnormal umbilical arterial Doppler velocimetry, and specific thrombophilic polymorphisms.
  • To examine the prevalence of Factor V Leiden, Prothrombin G20210A, and Methylenetetrahydrofolate reductase C677T polymorphisms in mothers and neonates with IUGR.
  • To determine if these genetic variations contribute to the development of IUGR.

Main Methods:

  • A case-control study involving prospective enrollment of fetuses diagnosed with IUGR.
  • IUGR was defined by reduced intrauterine growth, birth weight below the 10th percentile, and abnormal umbilical artery Doppler velocimetry.
  • Polymerase chain reaction (PCR) and restriction analysis were used to genotype 48 cases and 98 controls for the studied polymorphisms.

Main Results:

  • The prevalence of Factor V Leiden, Prothrombin G20210A, and Methylenetetrahydrofolate reductase C677T polymorphisms did not significantly differ between the IUGR cases and the control group.
  • Specifically, Factor V Leiden was found in 4% of cases vs. 7% of controls; Prothrombin G20210A in 0% of cases vs. 4% of controls.
  • The overall prevalence of these thrombophilic polymorphisms in mothers and/or neonates was 37% in cases and 34% in controls, showing no significant difference.

Conclusions:

  • This study did not find a statistically significant association between intrauterine growth restriction with abnormal umbilical blood flow and the investigated thrombophilic polymorphisms.
  • The genetic factors examined (Factor V Leiden, Prothrombin G20210A, MTHFR C677T) do not appear to be major contributors to IUGR in this population.
  • Further research is warranted to explore other potential etiological factors for IUGR.
Abstract

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