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Maternal blood screening tests / Fetal scans in pregnant women for Genetic disorders : What, Why & When?

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When women become pregnant, the couple is elated with excitement. However, once they reach a doctor’s office, fetal health screening program begin which can lead to some anxiety. Health care professionals discuss a combination of maternal blood screening tests [Double, Triple, Quadruple marker screenings and Non-invasive prenatal test (NIPT)] as well as fetal ultrasound scans (Nuchal translucency and anomaly scans)]. This can be confusing for the parents to be. In order to learn more about individual testing and what may be appropriate for them, pre and post-test counselling should be offered by genetic consultants/counsellors. The counselling should be patient-specific and should depend on patient’s value systems, cultural and religious beliefs. The information regarding different screening and diagnostic tests should be explained in a non biased  way, so that patients can make an informed decision. In addition, post-test counselling is also essential to explain what do the test ...