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Associations between fetal inherited thrombophilia and adverse pregnancy outcomes

Catherine S Gibson1, Alastair H MacLennan, Nard G Janssen

  • 1Department of Obstetrics and Gynaecology, The University of Adelaide, Adelaide, South Australia. catherine.s.gibson@adelaide.edu.au

American Journal of Obstetrics and Gynecology
|April 4, 2006
PubMed

Insights

Fetal inherited thrombophilia, including Prothrombin gene mutation and MTHFR variants, is linked to adverse pregnancy outcomes like small-for-gestational age (SGA). Specific gene mutations showed varied associations with SGA, antepartum hemorrhage, and preterm birth risks.

Area of Science:

  • Genetics and Genomics
  • Obstetrics and Gynecology
  • Perinatal Medicine

Background:

  • Inherited thrombophilia, genetic predispositions to blood clotting, can impact pregnancy.
  • Understanding fetal thrombophilia's role in adverse pregnancy outcomes is crucial for improved maternal and infant health.

Purpose of the Study:

  • To investigate the association between fetal inherited thrombophilia and adverse pregnancy outcomes.
  • Specific outcomes examined include pregnancy-induced hypertensive disorders (PIHD), antepartum hemorrhage (APH), small-for-gestational age (SGA), and preterm birth (PTB).

Main Methods:

  • Genotyping of 717 cases and 609 controls for Factor V Leiden (FVL), Prothrombin gene mutation (PGM), and MTHFR C677T and A1298C polymorphisms.
  • DNA analysis was performed using samples from newborn screening cards.

Main Results:

  • Prothrombin gene mutation (PGM) was associated with increased risk of SGA and APH in preterm infants (<28 weeks).
  • Homozygous MTHFR A1298C correlated with increased SGA risk in infants born 28-31 weeks and with APH and SGA in infants born <32 weeks.
  • Homozygous MTHFR C677T showed a reduced risk of PTB and SGA (32-36 weeks), while homozygous FVL decreased PTB risk (<32 weeks).

Conclusions:

  • Fetal thrombophilic polymorphisms demonstrate a potential relationship with adverse pregnancy outcomes.
  • Small-for-gestational age (SGA) appears particularly associated with fetal thrombophilia.
Abstract

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