Common Birth Defects

There are many birth defects, some of which can cause life altering or fatal consequences. Some of these diseases are preventable with proper nutrition, though others are genetic and cannot be avoided. The following are many of the most common birth defects and their causes.

Neural Tube Defects

Neural tube defects (NTDs) occur when the baby's neural tube doesn't close properly during gestation. There are several different types of NTDs, including: anencephaly, encephalocele, and spina bifida. Though NTDs aren't always preventable, you can lower your child's risk for developing one. The Centers for Disease Control recommends that women of child bearing age consume 400 micrograms of folic acid daily, even if they aren't planning on getting pregnant. ^1,2,3,6

Anencephaly is a birth defect that results from impartial closing of the neural tube during pregnancy. The neural tube normally folds and closes during the third and fourth weeks of pregnancy, forming the brain and spinal cord. The incomplete closure results in the baby developing an incomplete brain. Often the child will be born without parts of the brain, skull, and scalp. Common defects include no forebrain and no cerebrum. The brain matter that forms is often unprotected by skin or bone. ¹

Encephaloceles are an uncommon type of NTD. The CDC describes an encephalocele as a: "sac-like protrusion or projection of the brain and the membranes that cover it through an opening in the skull." This NTD results in an opening in the midline of the skull, either the upper part of the skull, the area between the forehead and nose, or the back of the skull. Sometimes an encephalocele can go undetected. Undetected ones are usually small and in the nose or forehead region. ⁶

Spina bifida is another NTD. There are different forms of spina bifida, the three most common of which are: Myelomeningocele, Meningocele, and Spina Bifida Occulta.

Myelomeningocele is the most serious type of spina bifida, according to the CDC. This form involves a sac of fluid that comes through an opening on the baby's back. This sac contains part of the spinal cord and spinal fluid. This part of the cord is damaged as well. Myelomeningocele causes moderate to severe disabilities, including: problems going to the bathroom, loss of feeling in the legs or feet, and paralysis of the legs.³

A meningocele is also a sac of fluid that protrudes from an opening in the baby's back, but the spinal cord does not protrude into the sac. This results in mild to nonexistent nerve damage and minor disabilities. ³

According to the CDC, spina bifida occulta is the mildest type of spina bifida. It presents as a small gap in the spine but without an opening or sac on the back. The spinal cord and the nerves usually aren't damaged in this type. There usually aren't any disabilities associated with this form either. ³

Down Syndrome

Down syndrome is a condition that involves a baby being born with an extra chromosome. Normally a baby is born with 46 chromosomes; babies with Down syndrome have an extra copy of one chromosome.

The extra chromosome affects how both the mind and body develop. According to the CDC, some common features of babies with Down syndrome include: "a flat face with an upward slant to the eye, a short neck, small ears, and a large tongue; tiny white spots on the iris (colored part) of the eye; small hands and feet; a single crease across the palm of the hand; small pinky fingers that sometimes curve toward the thumb; and poor muscle tone or loose ligaments." ⁵

Heart Conditions

According to the CDC, a ventricular septal defect (VSD) is a heart condition that is present at birth and is frequently referred to as a congenital defect. This condition involves a hole in the wall that separates the two lower chambers of the heart (ventricles). It disrupts the flow of blood and oxygen to the body. ⁷

Hypoplastic left heart syndrome (HLHS) is also a congenital structural heart problem. The defect results in the left side of the heart being underdeveloped. This results in the body not getting enough oxygen and blood. Signs of HLHS include: poor feeding; problems breathing; pounding heartbeats; a weak pulse; and an ashen or blue hue to the skin. ⁴

Sources:
¹Anencephaly, http://www.cdc.gov/ncbddd/birthdefects/Anencephaly.htm

²10 Things You Need To Know About Birth Defects, http://cdc.gov/Features/BirthDefects/

³Spina Bifida, http://www.cdc.gov/ncbddd/spinabifida/facts.html

⁴Hypoplastic Left Heart Syndrome, http://www.cdc.gov/ncbddd/birthdefects/HypoplasticLeftHeartSyndrome.htm

⁵Down Syndrome, http://www.cdc.gov/ncbddd/birthdefects/DownSyndrome.htm

⁶Encephalocele, http://www.cdc.gov/ncbddd/birthdefects/Encephalocele.htm

⁷Ventricular Septal Defect, http://www.cdc.gov/ncbddd/birthdefects/VentricularSeptalDefect.htm