Birth Defects

Birth defects, as the term suggests, are physical abnormalities that are present at birth. Also known as congenital abnormalities, they are found in almost 2-3% of all newborn infants. As the children grow older, around 5-6% seem to be affected and this becomes almost 10% by the time children reach the age of 5.

Why should I be aware of this?

• Most birth defects happen in the first trimester of pregnancy, when the organs of the baby are forming. This is the most important stage of development. However, some birth defects can also develop later in pregnancy for during the last six months of pregnancy, the tissues and organs continue to grow and develop. According to statistics, one baby out of every 33 in the United States is born with a defect.
• There are around 4000 known birth defects so far. These congenital defects can be of all kinds- either physical i.e. the kinds that affect how the body looks such as cleft lip or more intrinsic which is not visible from outside but can be more fatal like heart defects etc.
• Though with today’s modern medical advancements, a number of birth defects are detected in the womb itself and many of the problems can even be corrected, there are still a number of problems that cannot be detected.

All about birth defects

The exact reasons why these defects occur depends on a number of factors which vary from genetic to environmental. Medical experts state that in almost 40% of birth defects cases, the cause is known but majority of them are caused by unknown factors.

Genetic disorders occur when traits are passed on from parents to the child or runs in the family. It could be a chromosome abnormality, or because of single gene defect. Another major reason is the multifactorial inheritance which involves both genetic material and environmental factors. Almost 20 percent of all birth defects are the result of this kind. Environmental reasons or teratogens result in defects when the woman is exposed to a number of outside adverse conditions which could be anything from prescribed medication, smoking , street drugs, carelessness etc. About 7 percent of birth defects are caused by exposure to a teratogen.

Some common birth defects

Cleft lip and/or palate, Neural tube defects (NTDs) and it’s two common forms -Spina bifida and Anencephaly, Heart defects which include Atrial and ventricular septal defects, Patent ductus arteriosus, Aortic or pulmonary valve stenosis, Coarctation of the aorta and some others, Cerebral palsy, Clubfoot, Congenital hip, Congenital hypothyroidism, Gastrointestinal defects, Down syndrome, Phenylketonuria (PKU), Fragile X , Muscular dystrophy, Sickle cell anemia etc.

Diagnosing birth defects

The most common and routine test for detecting birth defects is the prenatal screening. This helps determine if the mother is the carrier of any infection or defect, which can get transferred to the fetus. It can also show any existing defect in the fetus itself. This test is useful in detecting Cleft lip or palate, Down syndrome, neural tube defects, chromosome abnormalities, inherited metabolic disorders, congenital heart defects, some birth defects of the limbs, congenital tumors and a few others.

Some of the medical tests that can help detect birth defects are –

• Alpha-fetoprotein
• Chorionic villus sampling (CVS) which is a prenatal test that involves taking a sample of some of the placental tissue and is tested for the presence of chromosomal abnormality
• Amniocentesis which is a procedure used to get a small sample of the amniotic fluid that surrounds the fetus to diagnose chromosomal or genetic disorders and open neural tube disorders.
• Ultrasound which is diagnostic technique that uses high-frequency sound waves to help create an image of the fetus. Many birth defects can be detected with ultrasound.
• Despite all these tests, sometimes birth defects are not detected till after birth. In these cases a blood test is done and analyzed. This can help in the case of a future pregnancy.

Prevention

Though some of the birth defects cannot be prevented, many can be controlled and prevented if certain basic precautions and rules are followed. There are many research studies being done on the causes of birth defects and how to prevent them across the world. Immunizations of the mother against certain infections, such as rubella, have gone a long way in preventing infection. In recent years, a strong link has also been discovered between the lack of the B-vitamin folic acid and the development of neural tube defects such as spina bifida and others as well.

What can I do?

Before pregnancy

• Ensure that all vaccinations and immunizations are up to date.
• Do a check up for the presence of any sexually transmitted diseases
• Consume the recommended dose of folic acid and prenatal vitamins.
• Avoid unnecessary medications and drugs during pregnancy.
• Consult a doctor on what medications to leave and what to have.
• You can also under go gene therapy or genetic testing before planning a pregnancy.

During pregnancy

According to all medical experts and common sense, the best way to have a health child is for the pregnant woman to take very good care of herself and the fetus. A few pointers are-

• Reduce the risk of miscarriage by avoiding caffeinated coffee, tea, and soft drinks
• Do not smoke and also avoid secondhand smoke
• Avoid alcohol and illegal drugs of any kind
• According to studies, exposure to excessive noise can have damaging effects on a developing fetus and lead to high-frequency hearing loss
• Have well balanced and nutritional meals, and take prenatal vitamins
• Ensue that there is exercise and rest
• Visit your doctor regularly and don’t be afraid to ask any question.

How to cope with children born with birth defects

There are two aspects to coping with birth defects. One is helping the children come to terms with their differences and other involves helping the parents adjust to a challenged child. Only if the parents are accepting of the child’s differences, can the child gain a positive outlook on life in general.

In the case of helping children with birth defects cope with life it is important to understand what effect the constant presence of doctors, therapies, medications etc will have on the child’s psyche as well as the body. So it is important to be patient and help them come to terms with it.

As the parent of a child with a birth defect, it's important for you to:

• Acknowledge your emotions be it shock, denial, grief, or anger. Do not retreat within yourself. Talk with your family members or friends or even your doctor or counselor.
• Seek support and information from support groups and associations of other parents coping with similar issues and problems. Talk to your doctor about the latest medical advancements. Also believe in taking second opinions.
• Never try and hide the child or the defect. Act in a healthy manner and celebrate your child.
• Search out books written on the particular birth defects or check the Internet for information.
• Some counselors also suggest that parents should keep a file with a list of questions as well as a remainder of all suggestions and tips given. Include emergency numbers in this file as well.
• Seek early intervention. It is normally the best strategy as besides identifying and evaluating the child’s problems, it can also help parents cope better with the various growing problems, help them care for the child better, prepare themselves better in terms of finances and most importantly build a stronger connection between the child and parents.

90 degrees

With modern science progressing by leaps and bounds, it is inevitable that research into the various causes of birth defects and its related preventive measures also progresses. Prenatal testing is becoming increasingly sophisticated and is also becoming much safer and more accurate. Although these tests still cannot prevent birth defects, they do help give a clearer, safer, and more accurate diagnosis at an earlier stage of pregnancy, thus giving parents more time and options.

Doctors are also beginning to carry out intricate surgeries while the child is still in the womb. Some examples include hernias of the diaphragm, spina bifida, and lung malformations. Though such surgeries and treatments are in early stages and still controversial, they do provide a hope for many parents.

With the advancement in stem cell research and the Human Genome Project, the hope of eliminating many of the genetic defects is on the rise and can one day become a reality.

CopperBytes

• One in 33 babies is born with a birth defect.
• Birth defects are the leading cause of death in children less than one year of age – causing one in every five deaths.
• Defects of the heart and limbs are the most common kinds of birth defects.
• All women who could get pregnant should get 0.4 mg of folic acid every day to help prevent some types of serious birth defects.
• For the majority of birth defects, the cause is unknown.
• Of the 4 million infants born annually in the United States, about 3 to 5 percent are born with birth defects.
• Most birth defects occur in the first three months of pregnancy, when the organs are forming.
• Few foods are completely off-limits during pregnancy. These include raw or undercooked meat, such as "pink-in-the-middle" burgers, and raw or undercooked seafood. Bacteria from these can cause severe food poisoning, which is dangerous to a fetus and very unpleasant for the mother.

References:

• Overview of Birth Defects
• Birth Defects Prevention
• Decreasing the Chance of Birth Defects

Additional Information

• Birth Defects