Severe Birth Defects

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Severe birth defects, can they be prevented?

Every woman thinks bout pregnancy as a time of joy and happiness and no parent plans to bring a child with serious birth defects in this world. But you are probably not aware of the fact that worldwide every year nearly 7.9 million babies are born with severe birth defects.

From the moment a woman gets pregnant she has to think about the safety of her unborn baby because there are substances in the environment that can interfere with the development of the fetus. These environmental factors also called teratogens are responsible for about 10% of al birth defects.

Especially the first eight weeks of pregnancy are crucial for the normal development of a child.

Common environmental factors that can possibly cause birth defects are:

Alcohol
Prescription or over the counter medication
Cigarette smoke
Street drugs
Infections
Chemicals

preventing birth defects

Also what and how much you eat when you are pregnant affect you and your baby’s health.

In this early stage of pregnancy not getting enough folic acid (folate deficiency) increases the risk of neural birth defects. But also obese woman are more likely to give birth to a child with birth defects.

In some cases a combination of environmental and genetic factors play a role in the development of birth defects in babies.

Still the causes of many of these birth defects are unknown and can therefore not be prevented.

Popular medications such as Topamax and Zoloft during pregnancy may greatly increase the risk of serious birth defects in Babies.

Genetic birth defects.

Many severe birth defects can be passed on from the parents to the child through the genes. Some of these genetic birth defects can be found in specific ethnical and racial groups like sickle cell disease in African Americans and Tay-Sachs disease in Ashkenazi Jews.

Birth defects can be passed on to children in different ways. When one of the parents has a faulty gene we name this dominant inheritance. We refer to recessive inheritance when both parents need to have the faulty gene to be able to pass the defect on to the child.

Hereditary disorders are passed down through families. It is important you inform your doctor about any hereditary disorders in your or your partner’s family.
If you have a family history of birth defects you may want to talk to a genetic counsellor. He can provide you with information on how genes work and about your chances of passing on a health problem to your baby.

Screening for birth defects.

Some birth defects can be detected during pregnancy by prenatal tests. Prenatal screening tests may give some information about possible health problems where prenatal diagnostic tests can identify if the baby actually has a problem.

Some women are considered a high risk pregnancy. This means that the woman or her baby is at a higher risk of complications during pregnancy or at birth. Pre existing conditions like diabetes, heart conditions, HIV and high blood pressure but also old maternal age are considered high risk pregnancies.

Types of birth defects.

We can separate four main categories.

Structural birth defects: abnormalities in a baby’s body parts or internal organs.

The most common are:

Heart defects
Spina bifida
Facial birth defects like cleft lip or cleft palate
Congenital hip dislocation.
Club foot

Functional birth defects: related to how a body part or body system works.

Examples are:

Autism
Down syndrome
Prader-Willi syndrome
Fragile X syndrome
Muscular dystrophy and cerebral palsy

Sensory birth defects: defects to the sensory organs eyes and ears caused by syndromes or inherited conditions.

Examples are:

Cataracts
Blindness
Hearing loss
Deafness

Metabolic disorders: Heritable conditions where a missing enzyme disrupts the body’s metabolic system.

Such as:

Tay-Sachs disease
Phenylketonuria (PKU)
Hypothyroidism.

Birth defect statistics

According to CDC (Centers for Disease Control and Preventions) 3 percent of all babies born in the USA are born with severe birth defects. About 20 percent of all infant deaths are due to birth defects.

About 10 percent of birth defects are caused by environmental factors; another 20 percent are hereditable conditions or chromosomal abnormalities. The rest, about 70 percent, are of unknown causes.

Statistics of birth defects in the United States:

Anencaphaly	1 in 4859
Spina bifida	1in 2858
Tetralogy of Fallot	1 in 2500
Cleft lip with and without cleft palate	1 in 940
Upper limbs deformity	1 in 2869
Lower limbs deformity	1 in5949
Down syndrome (trisomy21)	1 in 691

Preventing birth defects

Each year a frightening number of children, between 1000 and 6000, are born with fetal alcohol syndrome. A birth defect that is 100% preventable. Women should not drink any alcohol during pregnancy or when they are planning to become pregnant.

Practicing a healthy life style, eating a well balanced diet, regular prenatal care and avoiding harmful substances can help to minimize the risk of severe birth defects.