A new study has discovered that recurrent pregnancy losses in the first trimester in some women could be a result of genetic mutation.


A research published in the Royal Society Journal Open Biology reports that mutations in the FOXD1 gene could be responsible for half of miscarriages while the other half could be tied to infections, hormonal balance or immune problems.

“We found that women with FOXD1 mutations have a statistically high risk of suffering RSA [recurrent spontaneous abortion”, said a statement.

The gene functions in kidney and retina development. It may also regulate inflammatory reactions and prevent autoimmunity.


Recurrent spontaneous abortion (RSA) is the occurrence of two or more pregnancy losses in the initial 13 weeks of gestation and affects one or two in every 100 pregnancies.

The mutation of FOXD1 was first discovered in lab mice. 550 women, who had been affected by RSA, were examined to find out if they had mutations of the same gene. 271 non-RSA patients were used as

271 non-RSA patients were used as control for comparative analysis.


It was discovered that a majority of women with RSA possessed the gene mutation of FOXD1. However, findings from the control group led scientists to believe that the gene could have protective abilities when in its normal state.

“Our results have also shown that FOXD1 is possibly a new molecular actor modulating pregnancy maintenance, with mutations associated with ER in mice and RSA in humans.”

“Human fertility, like most biological processes in mammals, is assumed to be the result of subtle interaction of gene variants located in different genomic regions, having a quantitative effect and thus called QTL for quantitative trait loci.

“The expression of these gene variants, in interaction with environmental factors, results in significant quantitative phenotypic differences between individuals (e.g. at the organ or at the molecule levels).”
The MTHFR and NO33 genes have also been linked to early pregnancy loss.


Women with mutations of the former are more likely to have increased levels of homocysteine, a risk factor for miscarriages while the latter results in reduced production of nitric oxide.

In the uterus, nitric acid causes blood vessels to expand, therefore improving blood flow to the uterus and the growing fetus.

Discovery of various genetic mutations linked to repeated miscarriages can be discouraging for women who possess the gene but continued hope could lead to a successful pregnancy.


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