Researchers in Chile studied birth defects affecting the brain, spine, and face by looking at medical records from 2016-2017. They found that about 76 out of every 10,000 babies born had these types of defects. The good news is that Chile adds folic acid to flour, which helps prevent many of these problems. The study shows that boys and girls are affected differently—boys more often have cleft lip and palate, while girls tend to have more brain and spine defects. Understanding these patterns helps doctors and public health officials better protect babies before they’re born.

The Quick Take

  • What they studied: How common are birth defects of the brain, spine, and face in Chile, and do they affect boys and girls differently?
  • Who participated: The study looked at 3,376 babies born in Chile between 2016-2017 who had birth defects affecting the nervous system or face.
  • Key finding: About 76 out of every 10,000 babies in Chile are born with these types of defects. Brain and spine defects happened in about 77 per 10,000 births, while cleft lip and palate happened in about 120 per 10,000 births. Boys were more likely to have cleft lip and palate, while girls were slightly more likely to have brain and spine defects.
  • What it means for you: If you’re planning to have a baby or are pregnant, this research shows that folic acid fortification in flour is working to prevent many birth defects. However, it’s still important to take prenatal vitamins with folic acid as recommended by your doctor, especially if you’re trying to conceive or in early pregnancy.

The Research Details

This was a cross-sectional study, which means researchers looked at a snapshot of data from one specific time period (2016-2017) rather than following people over time. They used Chile’s National Registry of Congenital Anomalies, which is like a national database that collects information about babies born with birth defects. The researchers counted how many babies had brain and spine defects (called neural tube defects) and how many had cleft lip and palate (called orofacial clefts). They then calculated how common these defects were per 10,000 births and looked for differences between boys and girls.

The researchers also looked at what other health problems babies with these defects had. For example, they checked if babies with brain and spine defects also had problems with their bones, muscles, or other parts of their nervous system. This helps doctors understand which conditions tend to happen together.

Chile is a particularly interesting country to study because the government requires that all flour be mixed with folic acid, a B vitamin that helps prevent these types of birth defects. This mandatory fortification started years ago, so researchers wanted to see how well it’s working.

This type of study is important because it gives us real-world information about how often these birth defects happen in a whole country. By using official medical records instead of just asking people questions, the data is more reliable. Understanding the actual rates of these defects helps governments decide if their prevention programs (like adding folic acid to flour) are working well enough or if they need to do more. It also helps doctors know what to expect and how to prepare to help babies born with these conditions.

This study has several strengths: it used official national medical records rather than estimates, it included a large number of cases (3,376), and it looked at a specific time period so the data is consistent. However, the study only looked at data from one country during two years, so the results might be slightly different in other places or at other times. The study also couldn’t explain why some babies develop these defects and others don’t—it only showed how common they are. Additionally, the study relied on doctors correctly reporting and recording these defects, so if some cases weren’t reported, the actual numbers might be different.

What the Results Show

The study found that neural tube defects (birth defects of the brain and spine) happened in about 76 out of every 10,000 births in Chile. The most common type was anencephaly, which is when a baby is born without parts of the brain and skull. Orofacial clefts (cleft lip and palate) were slightly more common, happening in about 120 out of every 10,000 births.

One important finding was that these defects affected boys and girls differently. Boys were significantly more likely to be born with cleft lip and palate compared to girls. In contrast, girls showed a slight tendency to have more brain and spine defects than boys. These differences are interesting because they suggest that boys and girls might have different biological reasons for developing these defects.

The researchers also found that about 70% of babies with brain and spine defects had only that one problem—no other birth defects. However, when other problems did occur, they usually involved the nervous system, bones, muscles, or face. Similarly, about 77% of babies with cleft lip and palate had only that condition, with bone and muscle problems being the most common additional issues when they did occur.

The study identified specific patterns in which types of defects were most common. For brain and spine defects, anencephaly was the most frequent type. For cleft problems, cleft lip combined with cleft palate was more common than cleft palate alone. The research also showed that when babies had multiple birth defects, certain combinations appeared more often together, suggesting they might share common causes. For example, babies with brain and spine defects were more likely to also have facial or bone problems.

These findings are consistent with what researchers have found in other countries that also add folic acid to flour. The rates of birth defects in Chile are similar to those in other developed nations with mandatory folic acid fortification programs. This suggests that Chile’s program is working about as well as similar programs in other countries. However, the rates are still higher than what some researchers believe could be achieved with even better folic acid intake and other preventive measures. The sex differences found in this study (boys having more cleft problems, girls having slightly more brain and spine defects) match patterns that have been seen in other countries, suggesting these are real biological differences rather than just random variation.

This study has several limitations that readers should understand. First, it only looked at data from Chile during 2016-2017, so the results might be different in other countries or at other times. Second, the study could only count cases that were properly reported and recorded in the national registry—if some babies with these defects weren’t included in the database, the actual numbers could be different. Third, this type of study can show how common these defects are, but it can’t explain why they happen or prove that folic acid fortification is the reason for the rates observed. Finally, the study didn’t have information about individual mothers’ diets, vitamin intake, or other personal factors that might affect birth defect risk.

The Bottom Line

If you’re a woman of childbearing age or planning to become pregnant, take a prenatal vitamin containing folic acid (400-800 micrograms daily) starting before you try to conceive and continuing through the first trimester. This recommendation has strong evidence supporting it. Eat foods naturally rich in folate like leafy greens, beans, and fortified grains. If you have a family history of birth defects, talk to your doctor about whether you need a higher dose of folic acid. These steps can significantly reduce the risk of brain and spine defects in your baby.

Women who are pregnant or planning to become pregnant should pay close attention to this research. Healthcare providers and public health officials should also care about these findings because they help track whether prevention programs are working. Parents of children born with these conditions may find this information helpful for understanding how common these conditions are. However, if you’ve already had a baby with a birth defect, this research doesn’t change what happened in the past—instead, it emphasizes the importance of prevention for future pregnancies.

Folic acid works best when taken before pregnancy and during the first few weeks of pregnancy, when the baby’s brain and spine are forming. This happens very early—often before a woman even knows she’s pregnant. So the benefits appear during fetal development, not after birth. If you’re already pregnant, it’s still important to take folic acid for the rest of your pregnancy, even though the critical period has passed.

Want to Apply This Research?

  • If planning pregnancy: Track daily folic acid supplement intake (target: 400-800 mcg) and log folate-rich foods consumed (spinach, broccoli, beans, fortified cereals). Set a daily reminder to take prenatal vitamins at the same time each day.
  • Set up a daily alarm for taking prenatal vitamins. Add folate-rich foods to your grocery list and meal planning. If using a fertility or period tracking app, enable reminders to start folic acid supplementation at least one month before trying to conceive.
  • Track supplement adherence weekly and review monthly. If planning pregnancy, monitor consistency for at least 3 months before conception. During pregnancy, continue tracking through the first trimester when neural tube development is most critical. Share tracking data with your healthcare provider at prenatal visits.

This research describes birth defect rates in Chile and emphasizes the importance of folic acid for prevention. It is not medical advice. If you are pregnant, planning to become pregnant, or have concerns about birth defects, please consult with your healthcare provider or obstetrician. They can provide personalized recommendations based on your individual health history and risk factors. This study does not diagnose, treat, or cure any condition. Always follow your doctor’s guidance regarding prenatal care and supplementation.