During the 16th week of Ann Tucker's fourth pregnancy, she underwent an amniocentesis to check for birth defects not found in earlier screenings. The test was routine, recommended because she would be over age 35 at the time of delivery, putting the fetus at an increased risk for abnormalities.
"I wasn't worried about the results until my doctor's office called and asked me to come in," the Brooksville resident recalled. The test, which examines fluid from the baby's amniotic sac, had found an abnormality in the baby girl's 22nd chromosome. The arms of the chromosome had fused together to form a ring, Tucker said, meaning some genetic information would be missing.
Her doctor had little information and sent Tucker to Tampa to a genetic specialist at the University of South Florida. She went through genetic counseling to help her understand what her baby might experience based on similar cases.
"I was overwhelmed with possibilities," she said. Cleft lip or palate, clubbed feet and webbed fingers were among the physical deformities Tucker was told her baby might have. The infant also might have other health issues, such as congenital heart defects.
"The disorder was so rare that they had only a very broad scope of characteristics associated with her Ring 22," Tucker said. "But they knew for certain she would have at least mild to severe mental retardation."
Tucker's pregnancy progressed without incident despite - after the amniocentesis - its classification as high-risk. She underwent more tests, including advanced ultrasounds, to rule out specific problems. At 40 weeks, a few days shy of the baby's due date, Tucker delivered a 5-pound, 14-ounce baby girl with normal physical features including 10 fingers and 10 toes.
It was later, in the infant's first year, that abnormalities became apparent. At age 3 she was determined to have substantial delays in mental milestones.
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Birth defects are realities most couples think about at least briefly while planning for a new baby. And taking certain steps even before a pregnancy begins can reduce a woman's risk of delivering a child with a birth defect.
According to the Centers for Disease Control and Prevention, major birth defects are "structural changes in one or more parts of the body" apparent at birth, and adversely affecting the health, development or function/ability of a baby.
Every 4 1/2 minutes a child is born with a birth defect, which equates to about one in every 33 births. Birth defects are the leading cause of infant death, accounting for one in every five deaths. They also are blamed for major illnesses and long-term disability in affected children.
Not all birth defects can be prevented. But taking precautions before and during pregnancy can reduce the risk of the fetus developing certain abnormalities.
For instance, according to March of Dimes Florida Chapter, taking a multivitamin containing folic acid is one of the best ways to prevent birth defects and an important step toward having a healthy baby. Yet only about one-third of women know about it."
Folic acid plays a vital role in preventing serious birth defects of the brain and spine, known as neural tube defects. "Daily consumption beginning before and continuing through the early months of pregnancy is crucial because (neural tube defects) occur in the first few weeks following conception, often before a woman knows she is pregnant."
March of Dimes is the founding member of the National Birth Defects Prevention Network and is a leader in raising awareness about birth defects and prevention. According to a March of Dimes news release, "the risk for many types of birth defects can be reduced through healthy lifestyle choices and medical care before and during pregnancy."
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Studies show women can help prevent birth defects by:
??Consuming 400 micrograms of folic acid daily
??Reaching and maintain a healthy weight
??Seeing a health care professional regularly
??Taking only proper medications after consulting with a health care professional
??Avoiding alcohol, smoking and the use of illicit drugs
??Protecting themselves against domestic violence
Birth defects occur before a baby is born - many within the first three months of pregnancy when the baby's organs are forming. During the last six months, however, the tissues and organs still are growing and developing.
Some women are at a higher risk for having a baby with certain defects. They may include:
??Those taking certain drugs, smoking or drinking alcohol during pregnancy
??Those with medical conditions such as uncontrolled diabetes or obesity before and during pregnancy
??Women taking medications known to cause certain birth defects
??Those with someone in their family with a birth defect
??Women older than 35
Screenings for certain defects during each trimester of a woman's pregnancy can help determine if the fetus is at a higher risk of developing certain conditions. Maternal blood screenings and ultrasounds usually are done between the 11th and 13th week of pregnancy. Second trimester screenings usually are done between the 15th and 20th week, and include the maternal serum screen and the anomaly ultrasound.
More testing might be required if a problem is suspected, if the mother is over age 35 or if the woman had a previous pregnancy with a birth defect. The tests might include a high resolution ultrasound, chorionic villis sampling (CVS) or an amniocentesis.
The most common birth defects discovered through screenings include:
??Anencephaly, a serious birth defect in which a baby is born without parts of the brain and skull. It usually happens before a women knows she is pregnant.
??Cleft lip or palate occur when the lip or mouth do not form properly. This, too, happens early in pregnancy.
??Congenital heart defects, which are apparent at birth and affect the structure of the baby's heart and how it works.
??Down Syndrome affects babies born with a copy of chromosome 21. The extra copy changes how the body and brain develop and can cause both mental and physical challenges.
??Encephalocele is a rare neural tube defect that affects the brain.
??Gastroschisis affects the abdominal wall. The baby's intestines stick outside through the hole inside the belly button.
??Hypospadias occurs in boys where the opening of the urethra (tube the carries urine from the bladder to the outside of the body) is not located at the tip of the penis.
??Omphalocele, where the infant's intestines, liver or other organs stick outside the belly through the belly button.
??Spina bifida is a major birth defect of the spine.
??Upper and lower limb reduction defect occurs when the entire arm or leg of a fetus fails to form completely
Certain birth defects might not be diagnosed until after a baby is born. Sometimes the defect is immediately seen at birth. Other defects surface later in life, including some heart defects.
Seven years later, Tucker's daughter is growing at a normal physical rate, but her mental capacity remains behind those of her peers.
Tucker was thankful she learned of her baby's birth defects early in her pregnancy, allowing her time to adjust. "I am a better mom to a special-needs child because I had time to learn how to be one."
For more information about birth defects, prevention, screenings and research, visit the March of Dimes website at www.marchofdimes.com /florida.