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Out of America’s fifty states and five territories, only fourteen keep adequate records of birth defects.

Tracking Birth Defects In America

The Centers for Disease Control & Prevention (CDC) relies on these records, information gathered by 13 states and Puerto Rico, to create birth defect estimates for the nation as a whole.

This is necessary, vital work that should be extended to cover the populations of every state. Among other things, rigorously tracking birth defects allows researchers to identify new environmental factors that may be contributing to higher rates in particular locations.

Beyond simply gathering statistical information on birth defects, these state-led programs help the families of children with special needs find access to appropriate healthcare services that would be otherwise difficult to locate.

Birth Defect Resources By State

And while the lack of a nationwide tracking program is unfortunate, the information we do have presents a compelling picture of how many children are born with congenital anomalies, and how these numbers change by region.

With an eye to understanding the prevalence of specific birth defects in different locations, we’ve created a series of guides that cover information from state birth defect registries, as well as national data released by the Centers for Disease Control and Prevention.

Follow a link to learn more about birth defects in your home state:

Birth Defects: A National Snapshot

Every year, almost 4 million babies are born in America. In 2013, the US birth rate decreased to a record low, as only 62.5 babies were born for every 1,000 women of reproductive age. That represented a 10% decline from just seven years earlier.

The Centers for Disease Control reports that one in every 33 American babies is born with a major birth defect. If we assume 4 million total births, that means 121,212 babies are born with birth defects every year.

Birth defects are a major cause of infant mortality, contributing to more than one out of every five infant deaths. For every 1,000 live births, around 4 babies died due to birth defects in 2008. Early medical intervention and advanced technologies have contributed to a significant decline in birth defect-related deaths over the past decade.

Most Common Birth Defects In The US

Compiling statistics from the 14 state-based tracking initiatives we mentioned earlier, the CDC has been able to determine which birth defects are most common in America.

Beside each specific condition, we’ve noted a number of annual cases. Those numbers came from averaging the total number of cases reported between 2004 and 2006. The estimate below that, of how frequently babies are born with the birth defect, is based on the total number of live births in 2006: 4,265,555.

1. Down syndrome (6,037 cases every year)

One out of 707 babies

Down syndrome, or Trisomy 21, occurs when babies are born with an extra copy of the 21st chromosome. This abnormal duplication causes a wide range of developmental anomalies, and each child with Down syndrome will face unique physical and cognitive challenges. More common characteristics include:

  • Almond shaped eyes that slant upwards
  • Small ears
  • A tongue that can stick out of the mouth
  • Mild to moderate cognitive delay

There are three different types of Down syndrome. You can find more information at the National Down Syndrome Society’s website here.

2. Cleft lip with or without cleft palate (4,437 cases every year)

One out of 961 babies

In babies born with cleft lip, soft tissues that normally merge to form a continuous upper lip during early development remained separate for some reason. Children can be born with clefts on one or both sides of the nose. A cleft lip may or may not be accompanied by a cleft palate.

3. Cleft palate without cleft lip (2,651 cases every year)

One out of 1,609 babies

Your palate is the roof of your mouth. In babies born with cleft palate, the roof of the mouth failed to fuse together during early development. Most babies with cleft palate have difficulty feeding, breathing and speaking, although surgical intervention can successfully repair a cleft, and ongoing therapies can help children develop the skills that may be inhibited by the cleft.

4. Atrioventricular septal defect (1,966 cases per year)

One out of 2,170 babies

This class of relatively common congenital heart defects involves holes in membranes that would normally separate various chambers of the heart.

Learn more about atrioventricular septal defects here.

5. Rectal and large intestinal atresia / stenosis (1,952 cases every year)

One out of 2,185 babies

This broad category of birth defects includes any congenital blockage of the intestines, partial or complete. Portions of the large or small intestine may be narrow, slowing the flow of food or waste products, or absent altogether.

6. Gastroschisis (1,871 cases every year)

One out of 2,280 babies

A birth defect of the abdominal wall. Babies with gastroschisis are born with a hole near their belly button that allows intestines and other internal organs to poke through.

7. Tetralogy of Fallot (1,657 cases every year)

One out of 2,574 babies

A heart defect characterized by four separate abnormalities:

  • a ventricular septal defect
  • an abnormally large valve between the heart and the main artery that carries oxygen-rich body through the body
  • an abnormally small valve between the heart and the main artery that carries blood to the lungs for oxygen
  • walls of one of the heart’s lower chamber may be abnormally thick

Due to these anomalies, the blood in babies born with Tetralogy of Fallot carries less oxygen than normal. A secondary symptom of improperly oxygenated blood is often cyanosis, a blue or ashen tint to the skin.

8. Spina bifida (1,460 cases every year)

One out of 2,922 babies

A defect of the Central Nervous System in which portions of the spinal cord (a large bundle of nerves that deliver electrical impulses back and forth between the brain and the rest of the body) are not entirely protected by the bones of the spinal column.

Spina bifida occulta, the least severe form of this condition, is also the most common. Usually, “hidden spina bifida” doesn’t cause any problems. According to the Spina Bifida Association, around 15% of healthy people have it but don’t know.

Severe forms of spina bifida may cause permanent paralysis and brain damage.

9. Reduction deformity of the upper limbs (1,454 cases every year)

One out of 2,934 babies

“Limb reduction” occurs when a baby’s extremities fail to form properly inside the womb. In this more common form, one or both arms may be missing a segment, or absent completely.

10. Transposition of great arteries (1,252 cases every year)

One out of 3,407 babies

In babies born with this congenital heart defect, the heart’s two main arteries (the pulmonary artery and the aorta) are switched in location. As in Tetralogy of Fallot, TGA forces blood to flow through the body with less oxygen than normal.

11. Trisomy 18 (1,109 cases every year)

One out of 3,846 babies

Also called Edwards syndrome, Trisomy 18 is a genetic defect characterized by congenital heart defects, kidney problems and a number of other issues. Like all genetic syndromes, Trisomy 18 can vary in severity.

12. Diaphragmatic hernia (1,088 cases every year)

One out of 3,921 babies

The diaphragm is a muscle that separates the torso’s upper, “thoracic” cavity, along with organs like the lungs and heart, from its lower “abdominal” cavity, which contains stomach, liver and intestines. The muscle’s main function is to allow you to breath in.

Children born with diaphragmatic hernia have a hole in this muscle, and organs in the abdominal cavity can push up into the thoracic cavity. Symptoms generally include extreme difficulty breathing and abnormal heart rates.

13. Hypoplastic left heart syndrome (960 cases every year)

One out of 4,443 babies

In babies with this condition, parts of the heart’s left side failed to form properly. Underdeveloped and very small, these cavities cannot pump oxygen-rich blood to the rest of the body.

14. Esophageal atresia (905 cases every year)

One out of 4,713 babies

The esophagus is a tube that carries food and liquids from the mouth to the stomach. Babies with esophageal atresia may have an esophagus that ends abruptly, before reaching the stomach, or an abnormally narrow one.

15. Anencephaly (859 cases every year)

One out of 4,966 babies

Anencephaly occurs when a baby’s brain and skull fail to form properly within the first trimester of pregnancy. Babies with this condition are often born without significant portions of the brain intact, and the remaining portions may not be covered by bone or skin. Most newborns with anencephaly die shortly after delivery.

16. Anophthalmia (780 cases every year)

One out of 5,469 babies

Caused primarily by genetic factors, babies with anophthalmia are born without one or both eyes. A variant of this condition, microphthalmia, occurs when a child is born with abnormally small eyes.

17. Omphalocele (775 cases every year)

One out of 5,504 babies

In cases of omphalocele, organs normally contained within the abdomen protrude through a baby’s belly button, but are surrounded by a very thin, transparent sac.

Omphalocele varies in severity. In relatively minor cases, only a portion of the intestines are outside the belly. More severe cases may involve multiple organs. Surgical procedures are effective in treating it.

18. Reduction deformity of the lower limbs (701 cases every year)

One out of 6,085 babies

Similar to our previous example of “limb reduction,” this condition occurs when a baby’s legs fail to form properly. Portions of the leg can appear shorter than is normal, or be missing entirely.

19. Trisomy 13 (528 cases every year)

One out of 8,079 babies

Also known as Patau syndrome, Trisomy 13 is caused by abnormal duplication of the 13th chromosome. Children born with the syndrome present a wide range of characteristics, including:

  • heart defects
  • brain and spinal anomalies
  • small or underdeveloped eyes
  • extra digits
  • cleft lip with or without cleft palate
  • underdeveloped muscle tone

Children born with Trisomy 13 are unlikely to survive past their first year. According to the National Institutes of Health, only 5 to 10% of babies born with the condition do.

20. Encephalocele (341 cases every year)

One out of 12,509 babies

In this rare abnormality of the neural tube, a baby’s skull fails to close completely during early development. Without a complete enclosure, the brain can protrude outside the skull, surrounded by a sac.

Encephaloceles can be located at the back of the head, where they are most obvious. Some babies are born with very small defects of this nature, which can appear like minor protrusions in the forehead or nose area and go undetected. Surgical procedures can successfully repair encephalocele.

21. Common Truncus (301 cases every year)

One out of 14,171 babies

In a healthy human heart, each ventricle (chambers dedicated to pumping blood) has its own blood vessel which transports blood throughout the body. But during early fetal development, these two vessels are actually one, and then divide over time. In babies born with common truncus, the single vessel failed to divide properly.

Open heart surgery is required very early after delivery to construct a second vessel out of the cardiac tissues that are already present. After repair, there is around a 90% survival rate for children born with this condition.

Can Birth Defects Be Prevented?

Researchers agree that most birth defects are caused by a complex interplay of genetic factors and environmental toxins. But it is extremely rare that the specific causes of any one baby’s congenital abnormality are ever discovered.

Only in the case of genetic syndromes, like Down syndrome and Trisomy 13, is abnormal genetic material seen as the primary cause. No scientific studies have found the likelihood of a baby being born with a genetic syndrome to increase due to environmental factors.

While parents cannot control their genetic makeup, or the way their genes are reproduced in their growing baby, mothers can control what they eat and drink. The CDC recommends:

  • Taking 400 milligrams of a folic acid supplement every day. Folic acid is a type of Vitamin B and, ideally, women should start taking the recommended amount at least one month before they get pregnant.

Folic acid can reduce the likelihood of having a baby with neural tube defects, like spina bifida, by as much as 70%.

  • Avoiding alcohol, cigarettes and illegal drugs. These are “environmental factors” that are known to have harmful effects on fetal development. Sometimes, harmful chemicals from outside are called teratogens.
  • Proactively preventing infections, by washing your hands regularly and cooking meat thoroughly.