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FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
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Optimising the screening for haemoglobinopathies in pregnancy planning
Robert S Nickel1,2, Deepika S Darbari1,2, Brenda Martin1
1Division of Hematology, Children's National Hospital, Washington, DC, USA.
Human Fertility (Cambridge, England)
|March 21, 2023
Summary
Many adults are unaware of their carrier status for inherited blood disorders like haemoglobinopathies. This can lead to unexpected diagnoses in children, highlighting the need for accurate screening and counseling.
Area of Science:
- Genetics
- Hematology
- Public Health
Background:
- Haemoglobinopathies are common inherited blood disorders globally.
- Newborn screening identifies many cases, but carrier status is often unknown in adults.
- Prenatal screening is crucial for genetic counseling regarding the risk of affected offspring.
Purpose of the Study:
- To highlight diagnostic deficiencies in haemoglobinopathy screening.
- To illustrate risks of unexpected diagnoses in children with sickle cell disease.
- To emphasize the importance of correct test selection and interpretation for genetic counseling.
Main Methods:
- Case series analysis of clinical scenarios.
- Review of diagnostic testing pathways for haemoglobinopathies.
- Evaluation of potential testing deficiencies.
Main Results:
- Deficiencies in haemoglobinopathy testing can occur at multiple levels.
- Incorrect risk estimation can result from inadequate screening.
- Unexpected diagnoses of sickle cell disease in offspring were observed.
Conclusions:
- Accurate and comprehensive haemoglobinopathy screening is vital for prospective parents.
- Consultation with specialists is recommended for appropriate test selection and interpretation.
- Improved screening strategies are needed to prevent unexpected diagnoses of inherited blood disorders.
