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Checks for Abnormalities

While many babies are born healthy, a small percentage is born with a minor or major abnormality. Some of these abnormalities can be corrected partly or completely; others cannot be treated. If you are particularly concerned –because you or someone in your family has an abnormality or a disability or if you’ve previously had a baby with an abnormality – talk to your midwife or doctor as soon as possible for advice.

Abnormalities that can be screened for during pregnancy include:

  • Structural Abnormalities such as Spina Bifida
  • Chromosomal Abnormalities such as Down’s syndrome
  • Inherited Conditions such as Tallahassee, Sickle Cell Disorder and Cystic Fibrosis (if you have a family history)

Screening Tests

Most screenings during pregnancy are done through ultrasound scans and/or blood tests. Ultrasound scans may detect visible structural abnormalities, such as spina bifida. Blood tests can help to detect chromosomal abnormalities, such as Down’s syndrome. While screening tests can provide valuable information about your baby’s health, they are not 100% accurate, and cannot guarantee that your baby will be born without any abnormality.  Diagnostic tests can give you more accurate information, especially if you suspect your baby may have a serious chromosomal abnormality. However, these tests are more intrusive, often involve extracting a plasma sample from your womb, and also carry a risk of miscarriage (usually 0.5-1%). Opting for a diagnostic test is a choice you and your partner will have to make.

 Inherited Diseases

Babies inherit certain diseases and conditions from one or both parents. If you or your partner has an inherited condition/family history of inherited abnormalities, speak to your doctor or midwife for advice.  Common inherited diseases include:

Haemophilia is an inherited condition that impairs the blood’s natural ability to clot, resulting in bleeding more heavily and for longer than usual. People with severe haemophilia often experience internal bleeding causing pain and damage to joints and muscles over time. The condition is passed on to children from one or both parents, although boy children are more at risk of developing the disorder.

Muscular Dystrophy is an inherited genetic condition that progressively causes the muscles to weaken leading to increasingly levels of disability, which can range from moderate to severe.  The condition is inherited from one’s parents, although boy children have a higher chance of developing the disorder. Some times of Muscular Dystrophy can also shorten life expectancy.

  • Cystic Fibrosis

Cystic fibrosis is a genetic disorder that affects vital organs in the body, especially the lungs and digestive system.  The sweat glands are usually also involved. Both parents must be carriers of the gene variation for a baby to be born with cystic fibrosis.

  • Sickle cell disorder / Thalassaemia.

These are both serious inherited blood disorders passed on from parents to children. Having one of these disorders can affect the quality of your baby’s life throughout. People with these conditions are often very anemic, are at a higher risk of developing infections, and need medications and injections throughout their lives.

Children only develop symptoms of these conditions if they inherit two faulty genes: one from the mother and one from the father. Children who just inherit one faulty gene are known as carriers. While carriers themselves are healthy, if a carrier has a baby with another carrier, there is a high chance their baby will develop the disorder.

Anyone in Sri Lanka could be a carrier. It is recommended that both you and your partner are screened for this disease before you decide to have children. A screening can be done through a simple blood test. You can also have a screening test after you are pregnant (the best time is before you are 10 weeks pregnant). If you and your partner are both found to be carriers, speak to your doctor about steps you may have to take to ensure a healthy life for your baby, in case he/she develops the disorder. If you and your partner are both carriers there is a 25% chance that your child will not be affected at all, a 50% chance your child will be a carrier of the disorder, and a 25% chance that your child will develop the disorder.

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