New Gene Mutation May Explain 1 in 136 Miscarriages, Study Says

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According to a study, a novel genetic mutation accounts for one out of every 136 miscarriages.

Nature published a study on miscarriages during pregnancy caused by this genetic mutation. While each person’s genome is unique, some parts are nearly the same for everyone. It has long been questioned whether these genetic mutations, which are commonly shared, are necessary for human development.

One of the leading causes of neurodevelopmental disorders is identified as mutations in critical genetic sequences. More research is needed to determine whether these mutations also affect miscarriages that occur during pregnancy.

To investigate the influence of novel genetic mutations on miscarriages, researchers at deCODE genetics examined 467 samples from fetuses and mothers who had miscarried. By successfully comparing the genomes of miscarried fetuses with those of their mothers, they were able to identify the presence and timing of new genetic mutations.

The study found that one in 136 miscarriages was attributed to a novel genetic mutation, and the number of these mutations in aborted fetuses was similar to that found in adults. The research team clarified that when a fetus inherits one gene from each parent, a defect in one gene is not a significant issue; however, if both genes are defective, it may lead to fetal death.

They also noted that recombination and new genetic mutations are integral to how organisms adapt, but they are unlikely to cause rare diseases. From these findings, they concluded that a novel genetic mutation caused one in 136 miscarriages.

Natalie Evans
Natalie Evans
Dedicated to women’s health topics, Natalie covers reproductive health, hormonal balance, pregnancy, and menopause.

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