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Importance of Prenatal Screening for Complex Rare Conditions

  • Carina Schey
  • Aug 24
  • 2 min read

Prenatal screening plays a critical role in identifying complex rare diseases during pregnancy. These are conditions that are often difficult to diagnose, can be life-threatening, and may have significant lifelong, negative impacts on the affected child and family. Prenatal screening for these diseases is so important:

  • Early detection: Prenatal screening allows healthcare providers to detect genetic or metabolic disorders before birth. Early identification is particularly valuable for rare diseases, which might otherwise go undiagnosed until symptoms appear, sometimes years after birth.

  • Informed decision-making: Learning about the risk or presence of a rare disease gives parents crucial information to make informed choices regarding pregnancy management, delivery planning, and newborn care. In some cases, it may guide decisions about continuing the pregnancy or preparing for specialised interventions immediately after birth.

  • Improved outcomes: Early diagnosis enables timely interventions and, for some conditions, treatments that can dramatically improve outcomes. This could include specialised delivery arrangements, in-utero therapies, or immediate neonatal care that would not be possible without prior knowledge of the condition.

  • Genetic counselling: Screening results can guide genetic counselling for parents that provides information on the potential for recurrence in future pregnancies and options for family planning, which is especially important when dealing with hereditary rare diseases.

  • Resource allocation: Advanced notice through screening allows families and healthcare systems to plan and allocate resources. This may involve arranging for specialist involvement, financial planning, and connections to rare disease support groups or networks.

  • Research and data collection: Screening contributes to a broader understanding of the prevalence and natural history of rare diseases, supporting research efforts and the development of new therapies and preventative strategies.


The main rare diseases currently subjected to prenatal screening in the UK include:

  • Sickle cell disease

  • Thalassaemia

  • Cystic fibrosis

  • Chromosomal anomalies  to screen for Down’s syndrome (trisomy 21), Edwards’ syndrome (trisomy 18), and Patau’s syndrome (trisomy 13).

  • Other structural and genetic disorders such as microdeletions (e.g., DiGeorge syndrome), single-gene disorders (e.g., Noonan syndrome), and several chromosomal syndromes, as well as severe congenital anomalies and heart defects, but these tests are not always part of the standard NHS offering and may occur in a private healthcare setting.

  • Other rare diseases in special circumstances if there is a familial risk.  


A new study (2024) led by Genomics England is reviewing blood samples taken from newborn babies (not pre-birth) to help diagnose many more genetic disorders. In time, this may inform on better prenatal screening.


Parents-to-be deserve the early identification of a rare, complex condition to plan accordingly. Healthcare systems need to increase the list of rare conditions that should be subjected to prenatal screening. The benefits of prenatal screening are huge, as early detection and treatment can improve their health and prevent severe disability or even death.

 

References:

 
 
 

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