Most expectant parents fantasize about the little life that is on the way. What will baby look like? Will he have mom’s eyes? Or dad’s smile? But equally normal, is the tendency for expectant parents to worry about the health of their unborn child.
Most babies are born without any health-related problems but it is estimated that, in South Africa, 1 in every 40 babies will be born with some sort of birth abnormality, while 1 in 10 will develop an inherited disorder during their lifetime.
Parents generally assume the worst when it comes to birth defects, but many can be treated. Learning about the most common birth defects and how they are treated is the best way to prepare yourself, should your baby be born with one.
What is a birth defect?
According to information released by the Western Cape Government Human Genetics Services, a birth defect refers to any “abnormalities of body structure or function present at birth”. Some birth defects have genetic or hereditary causes, while others are a result of non-genetic causes. Researchers have identified thousands of birth defects, ranging from minor abnormalities such as Red-Green Colour Blindness, to serious and sometimes fatal disorders.
Some defects are visible at birth, such as Down Syndrome, Cleft-Lip and Clubfoot while others are not immediately obvious and only manifest themselves later on in life such as Diabetes and Porphyria. A number of birth defects are noticeable such as Dwarfism and others are hidden such as congenital heart defects. There are those that are rare, while others occur relatively frequently.
In South Africa, the National Department of Health focuses on 10 conditions and lists the most common conditions as being Albinism, Down Syndrome, Foetal Alcohol Syndrome (FAS) and neural tube defects such as Spina Bifida.
What are the causes of birth defects?
The causes for many birth defects are still unknown today however, according to the National Department of Health and Western Cape Government Human Genetics Services, where the causes are known, birth defects can be classified into three broad categories namely: genetic, environmental, and multi-factorial.
Genetic disorders are caused by genetic or hereditary factors. This means that they can recur in the same family and can be passed down from one generation to the next.
External or environmental
However, some disorders are not hereditary and are instead caused by external or environmental factors, (such as viral infections, medicines, and alcohol) that harm the unborn baby.
Multi-factorial disorders arise from the interaction that occurs between genetic factors and environmental influences. Such disorders can recur and be passed down in families.
The good news though is that, although birth defects cannot be cured to-date, there are things that can be done to alleviate or prevent certain disabilities from occurring.
Having a healthy baby
According to the Department of Health, there are various things that a woman can do to ensure a healthy pregnancy. Some of these preventative measures can be initiated up to three months before trying to fall pregnant.
The first steps are to:
- Stop taking the Pill and instead use another method of contraception
- Make sure that you have had all the necessary vaccinations, particularly against rubella (German measles)
- Start with a balanced intake of multivitamins which should contain 0.4mg folic acid
- Mention that you are planning a pregnancy to your doctor, particularly if you are on medication for a chronic disease such as diabetes, epilepsy or heart disease
- Seek genetic counselling if you are in your late thirties, if you have had two or more miscarriages, if you have given birth to a child with a congenital or hereditary disorder or if there is any history of a hereditary or genetic disease in your or your partner’s family.
Since the confirmation of pregnancy is usually obtained only after you are already two or more weeks pregnant, you ought to avoid the following risk factors when trying to fall pregnant:
- Unprescribed medicines
- Contact with anyone suffering from an infectious disease, especially Rubella
- Abdominal X-rays
- Regular contact with anaesthetic gases
- Excessive heat such as saunas and very hot baths
- Uninspected, undercooked meat
- Cat litter
Once you have find out that you are pregnant, you are advised to:
- Visit your antenatal clinic or doctor regularly
- Get sufficient rest and perform a light exercise regime
- Follow a balanced, vitamin-rich diet
- Obtain information on breastfeeding
- Contact your clinic or doctor immediately if you experience bleeding from the vagina, severe, persistent nausea, vomiting or headaches, swelling of the feet or legs, excessive or sudden weight gain, abdominal pains, a marked decrease in urine or a sudden, strong flow of water from the vagina
If there is any person with a birth defect or mental, vision or hearing impairment in your or your partner’s family, ask your clinic sister or doctor to refer you to your nearest genetic counselling clinic. Also ask about screening tests on pregnant women and a sonar examination to detect certain abnormalities in the unborn baby.
Once baby is born, it is important that you:
- Visit your clinic or doctor about six weeks after the birth of the baby for a thorough post-natal examination
- Take your baby to the baby clinic regularly for a general examination and the necessary vaccinations
- Consult your family-planning clinic or doctor with regard to an appropriate contraceptive
- Ask your clinic sister or doctor about laboratory screening tests that can be done on your new-born baby.
Further information about the prevention and treatment of birth defects can be obtained by way of genetic counseling. Genetic counselors provide information to patients about the nature and implications of a specific birth defect. They also providing psychosocial support and refer families to appropriate facilities. Such genetic counseling clinics are found in South African hospitals, universities with a Human Genetics Department and the provincial offices of the Department of Health.
Western Cape Government Contact Centre (for more information on maternal and women’s health)
Tel: 0860 142 142