Monday, June 17, 2019

Pregnant women taking epilepsy drugs more likely to deliver babies with birth defects


Drugs prescribed to control epilepsy in pregnant women with migraine, pain and bipolar disorder are likely to deliver babies with birth defects, according to a new study.

The study lays focus on the drugs-- valproic acid and topiramate. The birth defects include spina bifida and cleft lip.
 
For the study, researchers used data to identify pregnancies that resulted in live births between January 2011 and March 2015.

From the 1,886,825 pregnancies reported during those years, the researchers looked for the mothers' use of 10 anti-epileptic-seizure drugs before and after conception.

Researchers further looked for 23 birth defects in the children delivered by these women. The findings indicated that 8,794 women were prescribed a single anti-epileptic drug.

Women who were prescribed with valproic acid (10.4 pc of the group of pregnant women prescribed anti-epileptic medication) had 19 times greater risk of having a baby with spina bifida as compared with women who did not take an epilepsy drug.

Among the 913 women prescribed valproic acid, six babies (0.66 pc) had spina bifida, as compared with 616 babies (0.03 pc) born to women not taking an epilepsy drug.

The drug also increased the risk of seven other birth defects, including cleft palate and four types of heart defects.

On the other hand, women prescribed topiramate (5.9 pc) had a seven times greater risk of having a baby with cleft lip (with or without cleft palate), the study has indicated.

Among the 517 women prescribed topiramate, three babies (0.60 pc) had cleft lip, compared with 1,637 babies (0.09 pc) born to women not taking an epilepsy drug.

"The new study confirms other large-scale studies where similar findings were found. It reinforces the risks associated with these particular two medications,"said a Dr.

"I also know that there are some women with difficult-to-control-epilepsy that valproic acid may be the only medication that might be effective for them. All these different medicines have different ways of working in the brain, and they're not necessarily completely interchangeable," said the Dr.

"Most notable, valproic acid use during pregnancy has been associated with a higher risk for lower IQ, autism and autism spectrum disorder, and the need for special education in the children who were exposed during pregnancy. Topiramate has also been associated with increased risk for low birth weight," said the Dr

"A planned pregnancy allows the health care provider and the woman to decide on the best plan for her individually ... to lower fetal risk while keeping her seizures under optimal control," concluded the Dr

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Wednesday, March 22, 2017

Gene linked to human cleft lip and palate identified

Researchers have found that flaw in a gene linked to birth defects in mouse models may cause cleft lip and palate in humans too.
In the study, three siblings born with cleft lip and palate were found to have the same gene mutation associated with the birth defect.

The gene intraflagellar transport 88 (IFT88) ensures transportation antennae (cilia) on embryonic cells travel to the right place, enabling the development of cartilage, bone and smooth muscle in the face and skull.

"Finding this birth defect in every single child in a family is like catching lightning in a bottle because it allowed us to pinpoint the gene mutation that is probably responsible," said senior author of the study Yang Chai from University of Southern California in the US.

"Our finding that the gene IFT88 is involved in cleft lip and palate is unlikely to be mere coincidence," Chai said.

However, because this study - published in the journal Human Molecular Genetics -- involved only three children, Chai said more investigation is needed to find a causal relationship.

Operation Smile, an international nonprofit that provides free facial surgeries in developing countries, found and provided support to the three siblings -- two boys and a girl -- in Mexico who were born with cleft lip and palate. 

Their mother did not have the congenital disorder, but their father did.

Researchers went through 32,061 unique gene variations to identify IFT88.

"If someone carries this mutation, they may have a higher chance of giving birth to children with cleft lip and palate," said Chai.

"In our study, the animal model and the human mutation match," Chai said. 

"In the animal model, there is no doubt. We have shown that 100 per cent of the mice who have a single mutation in IFT88 have cleft lip and palate," Chai added.Researchers have found that flaw in a gene linked to birth defects in mouse models may cause cleft lip and palate in humans too.

In the study, three siblings born with cleft lip and palate were found to have the same gene mutation associated with the birth defect.

The gene intraflagellar transport 88 (IFT88) ensures transportation antennae (cilia) on embryonic cells travel to the right place, enabling the development of cartilage, bone and smooth muscle in the face and skull.

"Finding this birth defect in every single child in a family is like catching lightning in a bottle because it allowed us to pinpoint the gene mutation that is probably responsible," said senior author of the study Yang Chai from University of Southern California in the US.

"Our finding that the gene IFT88 is involved in cleft lip and palate is unlikely to be mere coincidence," Chai said.

However, because this study - published in the journal Human Molecular Genetics -- involved only three children, Chai said more investigation is needed to find a causal relationship.

Operation Smile, an international nonprofit that provides free facial surgeries in developing countries, found and provided support to the three siblings -- two boys and a girl -- in Mexico who were born with cleft lip and palate. 

Their mother did not have the congenital disorder, but their father did.

Researchers went through 32,061 unique gene variations to identify IFT88.

"If someone carries this mutation, they may have a higher chance of giving birth to children with cleft lip and palate," said Chai.

"In our study, the animal model and the human mutation match," Chai said. 

"In the animal model, there is no doubt. We have shown that 100 per cent of the mice who have a single mutation in IFT88 have cleft lip and palate," Chai added.



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