Birth Defects

Every year, 7.9 million infants (approximately 6 percent of babies worldwide) are born with serious abnormalities. These can be related to the anatomy (such as clubfoot or cleft lip), chromosomal abnormalities (such as Down syndrome – Trisomy 21) or biochemical/genetic mutations (such as sickle-cell disease). Some, but not all birth defects, can be detected prior to birth using prenatal screening.

Cleft Lip or Palate

A cleft lip or palate can be mild (involving only the upper lip) or severe (including the lip, nostril and dental palate). This condition occurs when the baby’s hard palate (roof of the mouth), soft palate (tissue at the back of the mouth), and/or upper lip do not close along the midline as they normally should. Typically, cleft lip is diagnosed before birth, during a second trimester fetal anatomy ultrasound exam.

If the ultrasound shows a cleft lip or palate, the MFM specialist may suggest an amniocentesis. Surgery to correct cleft lip and palate is based on the child’s particular situation, but it usually happens before 12 months of age.


Congenital talipes equinovarus (CTEV) or clubfoot, is a deformity in which the foot or ankle is twisted out of its normal position. CTEV is due to either heredity or problems during fetal development and can range from mild to so severe. Fortunately for the baby, clubfoot does not cause discomfort or pain and most children are otherwise healthy.

Clubfoot is treated early in life, usually when a baby is just one or two weeks old. With proper medical or surgical treatment, which can involve a number of methods such as casts, bandaging, splints, special shoes, surgery, and exercises, the foot can be improved so much that it develops normal appearance and functioning.

Congenital Heart Defect

Congenital heart defects (CHD) may occur for a variety of reasons, such as genetic abnormalities or developmental/structural abnormalities. Detection of heart abnormalities prior to birth can improve outcome for babies by allowing delivery at a hospital equipped to deal with heart diseases. It also allows specialists in the treatment of fetal heart disease to evaluate your baby prior to and after delivery. Women with family history of LHD and/or with diseases such as diabetics.

More serious heart defects may cause congestive heart failure and must be treated as soon as possible. Fortunately, many CHDs can be corrected or improved through surgery, medications, and/or pacemakers.

Down Syndrome (Trisomy 21)

As women age, their risk for a child with Down syndrome increases, particularly over age 35. Accordingly, screening and diagnostic tests for Down syndrome have been developed.

A child with Down syndrome may have slanted eyes, small ears, smaller mouth and nose with a flattened nasal bridge. Additionally, most children with the disorder have a shortened neck and small hands with shorter fingers. About half of children with DS have visual or hearing impairments. Ear infections, cardiac defects and intestinal malformations are also common.

Fragile X Syndrome

Fragile X syndrome is the most common genetic cause or mental disability in children. It can be mild to severe and is more common in males. Children who have Fragile X exhibit behaviors which are similar to autism. Physical symptoms include enlarged ears, an elongated face, weak muscles, flat feet, overcrowded teeth, cleft palate and cardiac issues.

Many children with Fragile X do not show these signs at birth and can appear physically typical. Often the syndrome may not be diagnosed until the child is two years old or older. Children with Fragile X syndrome can often learn to do many things other young children can do.

Missing or Undeveloped Limbs

The cause of this birth defect is mostly unknown, although some researchers believe it is caused by the pregnant mother’s exposure to a teratogen (a factor that can disrupt development of the fetus) such as a chemical, a virus or smoke. Women can decrease their risk of having a baby with a limb reduction defect by maintaining a healthy diet, weight, and exercise and by reducing their exposure to possible toxins and teratogens before and during pregnancy. Additional measures for prevention include taking a daily multivitamin with folic acid (400 micrograms) and avoiding cigarettes and alcohol before and during pregnancy.

Missing or undeveloped limbs can be detected during a routine ultrasound. Detection can help parents prepare for delivery and neonatal care and can allow the obstetrician or MFM to refer the family to an orthopedic specialist. The orthopedic specialist will be able to help the parents prepare so the baby can be fitted with a prosthesis or undergo surgical correction, if needed.

Spina Bifida

Spina bifida (SB), also known as a neural tube defect, is caused when a baby’s spine does not close completely during fetal development. The severity of the disease can range significantly. For some children, it is a hardly noticeable defect. For others, SB may be so severe as to cause paralysis of the legs and inability to control the bladder or bowels.

Spina bifida can be detected in pregnancy through maternal blood serum and/or fetal ultrasound screening. Generally, the prenatal diagnosis allows the family to be prepared for delivery, to evaluate options. Some fetuses with open neural tube defects to be corrected during pregnancy.