Australasian Science 11-1

(Chris Devlin) #1

W


omen who are pregnant for the first time
are largely unaware that the four main
complications of pregnancy – pre -
eclampsia, preterm birth, intrauterine
growth restriction and gestational
diabetes – occur in one-quarter of first pregnancies. Worry-
ingly, the number of these pregnancy complications is rising, and
they contribute to poor health outcomes for mothers and babies
in both the short and long term.
Currently there are no effective screening tools in clinical
practice that can accurately predict any complications of preg-
nancy in women who are pregnant for the first time. While
there are models to predict some of these complications in
women who have previously given birth, they rely heavily on
previous pregnancy history and their use is still confined to a
small number of UK hospitals. Furthermore, their accuracy is
modest at best.
However, our research group has used data from nearly 3000
pregnant women in Adelaide and Auckland, their partners and
babies to develop robust models to predict risk for each of the
four pregnancy complications with low false positives and nega-

tives. These will be offered as a genetic test, for which a small
blood or saliva sample is required from both the pregnant
woman and her partner at 12–15 weeks gestation.
We have already identified specific gene variants in both the
pregnant woman and her partner that, when combined with a
number of clinical, family history, dietary and lifestyle factors,
predict risk. Some of these factors are highly modifiable.
In this article we will reveal what some of these factors are
and offer strategies to reduce women’s risk.

Risk Factors
We are all predisposed to some sort of disease, such as heart
disease, high blood pressure or some cancers. These tend to
run in families, and this implicates genetic variants in their aeti-
ology. We have identified a number of gene variants in both
pregnant women and their partners that contribute to the risk
of pregnancy complications.
Gene variants that associate with many diseases, including
pregnancy complications, are often said to have low penetrance.
This simply means that not all people who carry these variants
actually get the disease.

26 | JAN/FEB 2016


Which Pregnant


Women Are at Risk?


CLAIRE ROBERTS & TINA BIANCO-MIOTTO

A new screening test can identify the risk of pregnancy complications based on a genetic test
in conjunction with lifestyle factors.

Pregnancy Complications Explained


Preeclampsia High blood pressure first occurring after 20 weeks gestation in conjunction with protein excretion
in the urine (consistent with impaired kidney function).
Preterm Birth Birth before 37 weeks of gestation. (Full term is 37–41 weeks, with the estimated date of delivery
40 weeks from the start of the last menstrual period.)
Intrauterine growth restriction A baby that did not grow to its full genetic potential (often defined as being the lightest 5% or 3%
of babies corrected for gestational age).
Gestational diabetes mellitus Diabetes first diagnosed during pregnancy.
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