Fetal Anatomical Defects
Being pregnant is a time of joyous wonder but can also pose a great deal of anxiety. There is a brand new world of exciting possibilities but also a world filled with common fears and doubt. You may be worried that your child will have some sort of health condition or problem. There are 4000 different kinds of birth defects ranging from common structural defects of the human anatomy, like cleft lip and club feet, to genetic disorders, such as Down syndrome. Every year about 150,000 babies are born with anatomical defects in the United States.
However, not all anatomical defects are the same. Thanks to advances in modern surgery, many can be repaired shortly after birth.
What are Common Birth Defects?
The most common birth defects are cleft lip or palate, neural tube defects such as spina bifida, anencephaly, heart defects, and cerebral palsy. Birth defects can be caused by a number of factors including genetics, chromosomal problems, environmental hazards, lack of certain nutrients, alcohol or drug abuse, infections or diseases. However, a large majority of birth defects have no known cause. According to the March of Dimes, 60% birth defect cases are of a mysterious origin.
Cleft Lip or Palate
Cleft lip or palate is a common birth defect that results from the abnormal growth of the mouth or lip tissues in the womb. A cleft lip is an opening between the upper lip and the nose while a cleft palate is an opening between the mouth roof and the nasal passage. Cleft lips or palates occur in one in 700 to 1000 babies born in the United States. This structural defect is known to happen frequently in Asian, Latino or Native American children. It can be repaired after birth with surgery. Most doctors prefer to repair a cleft lip by three months of age. A cleft palate is usually repaired between nine and 18 months of age. Your doctor will work with a team of specialists for individualized treatment of your child.
Club Foot
Club Foot refers to an abnormal growth of the foot and ankle in unborn babies. Club feet have an occurrence rate of one in 735 babies every year. In babies with club feet, the feet usually turn in or point down and the range of motion in the club foot is limited. Club feet are administered to by an experienced physician within the first week of life through casts or surgery. Club feet can be detected in utero by ultrasound and boys are twice as likely to be affected than girls.
Spina Bifida
Spina Bifida is a neural tube defect occurring in fetal development when tissue around the spinal cord does not close properly. The cause of spina bifida is still unclear. Severe forms of spina bifida can lead to physical disabilities. A person with spina bifida may be paralyzed, have abnormal bladder and bowel function, have seizures and even die. The most severe form of spina bifida, called myelomeningocele, requires surgery in the first 48 hours after birth. A doctor will perform this emergency surgery to prevent further nerve damage. A doctor will work with a specialized team for the individualized treatment of your baby.
Heart Defects
Heart defects occur when any part of a baby’s heart does not develop properly in the womb. Known as congenital heart defects, they can range from a hole in the heart’s chambers to abnormal blood flow or the heart may have several deformities. Heart defects have a range of causes including viral diseases in the mother, presence of diabetes, certain medications and missing genes. In fact, missing genetic material on chromosome 22 has been identified as one of the causes of heart defects.
Many children with Down syndrome and fetal alcohol syndrome also have heart defects. If a heart defect is suspected, you will be referred to a pediatric cardiologist. After conducting chest x-rays, electrocardiograms or echocardiogram, the cardiologist may decide to repair the heart defect in your baby before her first birthday.
Cerebral Palsy
Cerebral palsy is the collective term for a group of movement disorders that is caused by injury to the brain. Occurring in 10,000 babies every year, the disorder interferes with communication between the body and the brain, thereby causing a lack of muscle coordination. The disorder can range from mild movement problems to a severe degree of being paralyzed, having abnormal bladder and bowel function, seizures, and developmental delay.
The cause of cerebral palsy is not entirely clear but some factors include maternal infection with German measles, blood disorders and premature birth. Usually diagnosed by two to three years of age, children with cerebral palsy will work with a team of surgeons, pediatricians, physical therapists, and occupational therapists for individualized treatment. Depending on the specific case, surgery or drugs may be recommended.
Prevention of Birth Defects
To help protect against many birth defects, including neural tube disorders, cleft lip and palate, women of reproductive age are encouraged to consume adequate amounts of folic acid. All women need about 400mg of folic acid every day. Women who are already pregnant need 600 mg of folic acid a day. Women who are at risk of having baby born with neural tube defects need to start taking 4000mg of folate every day up to three months before conception.
Preparing for Pregnancy
Women who are trying to conceive should go to a hospital clinic to be tested for sexually transmitted diseases and to make sure they are up-to-date with their vaccines. If you are taking prescription medicine, you will want to talk to your doctor about your conception plans and discuss any potential risks. If you are planning on becoming pregnant or are already pregnant, it is best to quit smoking and abstain from alcohol and drugs. Also, eat a healthy prenatal < a href="/pg/pregnancy_diet.html">diet and get plenty of rest and exercise.
If you suspect you are at risk for birth defects due to illness or other health condition, you should talk to your doctor about prenatal screening and testing. In some cases, preimplantation genetic diagnosis may be performed.
Screening and Diagnosis of Birth Defects
There are several types of tests now available for pregnant women including screening, diagnostic testing and genetic testing. Some of these tests may be a part of your routine testing, which can include testing of your blood, urine and blood pressure. If your health care provider suspects that your baby may be at risk of birth defects, you will be asked if you would like to have an amniocentesis or chorionic villus sampling test performed.
Amniocentesis
Amniocentesis (also known as amniotic fluid analysis) is when a doctor draws a sample of amniotic fluid from a woman’s womb to test for abnormalities in the chromosomes and genes. Usually conducted between the 15th and 20th week of pregnancy, this test can reveal if your baby has Down syndrome or spina bifida. However, it also increases your risk of miscarriage slightly (about 0.5%).
Chorionic Villus Sampling
Chorionic villus sampling (CVS) is when a placenta sample is taken from your uterus to be tested in a laboratory for birth defects. Done between the 8th and 12th week of pregnancy, this test can detect genetic abnormalities such as Tay-Sachs disease and Down syndrome. Like amniocentesis, though, you risk of miscarrying is slightly increased by having the test performed.
Getting Pregnant
