Pre-Natal Diagnosis

Whilst most women give birth to healthy babies, about 3% have a major birth defect. These result from a genetic or chromosomal disorder. When an abnormality is diagnosed, this information with expert counselling and support, can help parents to make decisions about the pregnancy.

The initial effect of hearing during pregnancy that your baby is not the perfect baby you anticipated is traumatic. During the days, weeks and, indeed, months that follow, there will be many additional concerns. You may worry about what the baby will look like, about the baby dying in the womb or at birth, or about the labour starting early. There will be concerns about the actual birth, about the baby actually surviving and the responsibility of caring for a baby with problems. There can be a feeling of helplessness and of a lack of control of your life. You may doubt the diagnosis and try to convince yourself that it is all a mistake. It is hard to accept that your baby may not live.

Pre-Natal Diagnosis

  • Provides counselling, screening and diagnostic testing
  • Follow–up care and monitoring is jointly provided for those women who require it from a multi-disciplinary team

Information and decision making in ante-natal screening

  • Some women are offered a form of screening in pregnancy to determine if they are at a sufficiently high risk of a particular disorder to warrant a diagnostic procedure such as Chorionic Villus Sampling (CVS) or Amniocentesis.
  • No test should be presented as routine.

All women should make an informed decision to opt into ante-natal testing. As part of the pre-test “counselling” process, it is therefore understood that the purpose of ante-natal testing is to detect foetal abnormality. Issues such as language and terminology can then be explained and some of the confusion and distress can be avoided.

Approach

  • A multi-disciplinary team approach is essential. The team will comprise of midwives, obstetricians, sonographers, social workers, paediatricians, geneticists and surgeons.
  • There will be support from disability organisations.
  • Counselling before a test is done will help couples decide which test, if any, is right for them and their baby.
  • If a baby is found to have an increased risk for a chromosomal problem following screening, or an abnormality following a diagnostic test, counselling provides an opportunity to discuss the following:
    • What the result means for couples and their families
    • The options available at this time
    • Whether they wish to have further testing that is available
    • What course of action to take
    • Support will be offered to couples no matter what they decide to do

Why should Pre-natal Diagnosis be considered?

  • Family history of a person with a serious disorder
  • Being a “carrier” for mutation
  • Having a previous child affected by a serious problem in growth, development or health
  • Maternal age related anxiety
  • Where ultrasound findings suggest an abnormality in the pregnancy

After a prenatal diagnosis of a chromosomal disorder, take each day at a time and do not anticipate the future too much. It is best to focus on your child as a baby and not as a combination of problems and symptoms. This is a new life you are going to deliver which you have carried and nurtured for months. Even if your baby’s lifetime is limited to a few months in the womb, or a matter of hours, days or months in this world, her life can be a positive experience.

Pre-natal diagnostic tests

First Trimester Screening (FTS)

This is a non-invasive screening test.
By combining history, scan details and a maternal blood test, an individual’s personalized risk for Down Syndrome, Edward’s Syndrome and Patau’s Syndrome can be calculated.

  • Gestation: 11 – 13 weeks
  • Result available in 1 – 2 days

Chorionic Villus Sampling (CVS)

This is an invasive diagnostic test.
This is a procedure where a sample of the placenta tissue is obtained for testing.
Tests can be done on the sample to check for disorders such as Down Syndrome, Cystic Fibrosis and to determine gender.

  • Gestation: 10.5 – 14 weeks
  • Results: 3 weeks (Rapid test – 3 days)

Amniocentesis

This is an invasive diagnostic test.
This is a procedure where a sample of amniotic fluid is obtained for testing for similar disorders as CVS.

  • Gestation: 15-20 Weeks
  • Results: 3 Weeks (Rapid test – 3 days)

In Summary

  • It is important to discuss concerns openly. It may be useful to weigh up pros and cons of testing.
  • There is no right or wrong answer to any of these questions. Each woman must decide what she feels comfortable doing. Some will chose to have testing, while others will decide against it.
  • It is important to remember that the majority of women who opt for tests receive normal results and have no complications after testing.
  • When a foetal abnormality is diagnosed parents and their families may, if they so wish, continue to avail of the Prenatal Diagnosis Clinic (PND) multi -disciplinary team.
  • If parents have been referred for specific tests from another hospital to a tertiary centre they will be offered the choice to remain in their locality or deliver in the tertiary centre.

If parents have been referred for specific tests from another hospital to a tertiary centre they will be offered the choice to remain in their locality or deliver in the tertiary centre.

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