Birth Defects: Diagnosis and Prevention

For couples expecting the arrival of their baby, the fear of birth defects is looming since many defects cannot be detected until the baby is born. Fortunately, modern technology can provide solutions and diagnostic measures that reveal some defects, if any, and help safeguard the health and future of the baby.

Diagnosis of Birth Defects

During pregnancy, most woman have an ultrasonography done to determine how well the foetus is growing and that there are no complications. This technique is also a very good way of finding birth defects. Similarly, methods like CVS and amniocentesis are also good means to find out birth defects such as:

  • Neural Tube defects
  • Chromosomal abnormalities, such as down syndrome
  • Cleft lip or palate
  • Congenital heart defects
  • Congenital tumours
  • Gastrointestinal and kidney malformations
  • Metabolic disorders
  • Limb defects

Ultrasound – This is a common and simple method of detecting birth defects in a child, especially structural defects in the heart or urinary tract and spina bifida. Usually by the third month, the baby has grown sufficiently for a practitioner to detect birth defects through ultrasound. This procedure does not harm the growing foetus or the mother, and can also reveal information such as the growth of the baby, position in the womb and if the mother has infections or structural anomalies in the pelvic area that may harm the child.

Parents must remember that this test only suggests the possibility of a birth defect. A child may be born perfectly normal in spite of the test result that shows the chance of a defect.

Ultrasound, or ultrasonography, is also used as an aid with other prenatal screening tests like amniocenteses.

Chorionic Villus Sampling (CVS) – Samples of tiny projections on the placenta, called chorionic villi, are taken to look for defects in the foetus. The greatest advantage of this test is that it can be done very early in the pregnancy, during the 10th or 12th week, possibly providing a better chance of diagnosis and treatment. If a child is found to have a birth defect at this stage, parents have the choice to terminate the pregnancy if they wish.

The sample of the chorionic villi may be taken through the cervix or the abdomen. Generally, the doctor ensures the position of the foetus through an ultrasound and then removes a sample through the cervix, with the help of a catheter. When a sample is taken through the abdomen, the skin is anaesthetised first. CVS is generally more accurate than ultrasound alone.

Amniocentesis - This has become a common method for detecting birth defects. A sample of the amniotic fluid surrounding the foetus is removed using a syringe inserted through the abdomen. The fluid is analysed to look for any disorders. Again, ultrasonography acts as a visual aid to show the doctor the location of the baby.

The results of this test are available in one to three weeks. Amniocentesis can be performed any time after 14 weeks of pregnancy. This procedure is mainly performed to check the alpha-fetoprotien level in the fluid, which indicates whether the foetus has an increased risk of brain or spinal chord defect.

Apart from these major diagnostic measures, there are also other tests such as, tandem mass spectroscopy, which screens for disorders of metabolism on a small blood sample. Another method is percutaneous umbilical blood sampling (PUBS), used for chromosomal analysis during the later stages of pregnancy if a defect has been detected with an ultrasound.


There are many steps that can be taken before and during pregnancy to ensure your baby remains free of defects.

Before Pregnancy

  • All expectant mothers should ensure that their vaccinations are up to date.
  • Make sure you and your partner do not have any sexually transmitted diseases.
  • Folic acid is the most important B vitamin, which is needed to generate new cells. For a pregnant woman, adequate intake of folic acid is all-important, as it can prevent neural tube defects. You should begin taking daily supplements a minimum of six months before you start trying to get pregnant.
  • Check with your doctor before taking any over-the-counter or prescription medications. These may harm the fertilised embryo before you are even unaware of its existence.
  • If your family has a history of genetic disorders, or a previous child has a birth defect, it may be advisable to have genetic counselling before you plan another child. The counsellor will help you understand where the problem lies, discuss various prenatal tests available and help to resolve your doubts and fears.
  • Make sure that any conditions you may have, such as diabetes, are under control and will not harm the baby in any way. Speak to your doctor about it.

During pregnancy

  • Avoid smoking, alcohol and drugs
  • Ensure that you will not be in the vicinity of any harmful chemical toxins.
  • Drink plenty of fluids
  • Eat a healthy, balanced diet
  • Take daily dose of folic acid and iron, if your doctor advises.
  • Get genetic testing done to ensure the baby does not have any genetic diseases.
  • Exercise moderately
  • Get plenty of rest

Treatment Before Birth

Some birth defects can be cured before birth, if they are detected in time. Many doctors have successfully repaired urinary tract defects, congenital diaphragm disorders and abnormalities of the lung before birth. Spina bifida, a major birth defect, is also increasingly cured and the chances of survival increase by performing surgery on the foetus.

Administering certain medications to mothers can provide help for differences in Rh factor and for abnormal heart rhythms.

Further research in the field of birth defects is always underway, bringing a ray of hope to many parents and children currently dealing with birth defects.

Coping with Birth Defects

Having a child with a birth defect can be difficult, both emotionally and mentally, but reacting negatively may worsen the situation for you, as well as your baby.

Some ways to cope include:

  • Speak openly about your emotions – Do not hesitate to verbalise your emotions of grief, sorrow and shock, and share them with your partner and family members. You may also want to consult a psychologist.
  • Don’t treat your child differently – Your child needs your love and support now more than ever. Be good to her, and celebrate her small achievements just as any proud parent would.
  • Get support – A support group of parents facing similar problems may help you to cope. Join one, or try to get to know some other parents whose children have birth defects.
  • Get informed – Learn the exact nature of the defect, and what you can do to make your child feel better, by reading books and attending seminars.
  • The earlier the better – When you discover the defect it is best to start treatment as soon as possible to reduce the chances of the defect hampering your child’s quality of life. Contact specialists and seek their advice.

For more info on pregnancy, visit our sister Pregnancy site.

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In Level 2 ultrasound of my wife doctor has told the baby has Single Umbilical Artery, what are the chances of having normal baby after delivery
5 years ago