If cleft lip & palate does not run in my family, where is it coming from?

Non-syndromic cleft lip & palate does not always depend on genetics. 

The cause could be ENVIRONMENTAL .

What does this mean?

When the baby is born with an isolated cleft lip + palate (non-syndromic), the environment, rather than the baby’s actual genes could played a role. There may have been trauma or some disturbance in the womb during the time when the palate and lip develop in the fetus .

Just to name a few: smoking, alcohol, diet quality, folic acid, exposure to chemicals, and parental age could increase the risk of cleft lip + palate.  Often, the cause is a blend of genetic and environmental factors, but here, I want to focus on environmental factors because these are potentially things we can CONTROL.

Craniofacial development is the result of a number of signaling pathways and is extremely complex. If this is interrupted for any reason, there can be a failure of fusion of the facial structures . 

When does this happen?

This occurs between the 6th and 8th week of pregnancy .

OK, how does this happen?

1. Smoking¹
   • Mothers who smoke more than 25 cigarettes a day double the risk of having a child with cleft lip + palate
     • This is especially the case when mothers smoke during the first trimester of pregnancy (when the facial structures are developing)
   • Exposure to smoking does not affect the chances of having a child with cleft lip + palate
2. Alcohol consumption²
   • Mothers who consume alcohol at high levels (more than 5 drinks at a time) during the first trimester of pregnancy increase the risk of having a child with cleft lip + palate 
3. Age³
   • Mothers over the age of 40 increase the risk of having a child with cleft lip + palate
   • Mothers between the ages of 30 and 39 increase the risk of having a child with cleft palate, only
   • This could be due to the fact that mothers who are older have been around environmental toxins longer than a mother who is younger
4. Diet⁴
   • Deficiencies in folate, niacin, thiamin, vitamins B6 and B12, riboflavin, zinc, amino acids, and carbohydrate are linked to cleft lip + palate
     • This is especially true during the time of conception and the year leading up to pregnancy
5. Chemicals 
   • Women exposed to solvents like paints, varnishes, dyes, gasoline, cosmetics increase the risk of having a child with cleft lip + palate⁵ 
     • Women working as laboratory technicians, beauticians, hairdressers, and cleaners are especially prone to exposure to these chemicals
   • There is limited evidence regarding effect of pesticides and herbicides, but it has been found that:
     • Men working with pesticides increase the chance of having a child with cleft lip + palate⁶

How it can be prevented:

1. Avoid smoking and alcohol during pregnancy, especially during the first trimester.
2. Be aware that pregnancies later in life could potentially increase your risk of having a child with cleft lip + palate.
3. Have a full, complete, nutritional diet with plenty of proteins, healthy fats, and carbohydrates. Folic acid supplements are especially beneficial.
4. Avoid exposure to solvents, especially during the first trimester.

My story:

I have one older sister, Kristen, and she is 5 years older than me because my mother had 3 miscarriages after Kristen was born . When my parents found out they were pregnant after the 3 miscarriages, they were ecstatic! The doctor had said they were going to have triplets, but at the 8-week mark, the ultrasound had shown 2 non-viable sacs and 1 sac with a beating heart (that’s me!) . 

My parents did not know I would be born with a cleft lip + palate, but it is assumed that due to the loss of the other embryos, there was a disturbance in my mom’s womb, causing an issue with the fusion of my facial structures. 

Of course, this is an example of an environmental factor where the issue could not be controlled. So it is important to realize these things can definitely be beyond our power, whether we try to prevent these things from happening or not. 

I think it is so important to control what we can and realize that all we can do is try our best!

¹Honein MA, Rasmussen SA, Reefhuis J, Romitti PA, Lammer EJ, Sun L, et al. Maternal smoking and environmental tobacco smoke exposure and the risk of orofacial clefts. Epidemiology 2007;18:226-33.
²Boyles AL, DeRoo LA, Lie RT, Taylor JA, Jugessur A, Murray JC, et al. Maternal alcohol consumption, alcohol metabolism genes, and the risk of oral clefts: A population-based case-control study in Norway, 1996-2001. Am J Epidemiol 2010;172:924-31. 
³Herkrath AP, Herkrath FJ, Rebelo MA, Vettore MV. Parental age as a risk factor for non-syndromic oral clefts: A meta-analysis.Cleft lip and palate: Volpato, et al.J Dent 2012;40:3-14. 
⁴Krapels IP, van Rooij IA, Ocké MC, West CE, van der Horst CM, Steegers-Theunissen RP. Maternal nutritional status and the risk for orofacial cleft offspring in humans. J Nutr 2004;134:3106-13. 
⁵Garlantézec R, Monfort C, Rouget F, Cordier S. Maternal occupational exposure to solvents and congenital malformations: A prospective study in the general population. Occup Environ Med 2009;66:456-63. 
⁶Shaw GM, Wasserman CR, O’Malley CD, Nelson V, Jackson RJ.Volpato, et al. Cleft lip and palate: Maternal pesticide exposure from multiple sources andselected congenital anomalies. Epidemiology 1999;10:60-6.