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Parents of Children with Sickle Cell Disease Are Interested in Preimplantation Genetic Testing

Monica Attia1, Shawn Kripalani1, Isha Darbari2

  • 1The George Washington University School of Medicine and Health Sciences, Washington, DC.

The Journal of Pediatrics
|June 27, 2020
PubMed

Insights

Most parents of children with sickle cell disease (SCD) are unaware of preimplantation genetic testing (PGT). Education significantly increased awareness and interest in PGT as a reproductive option.

Area of Science:

  • Genetics
  • Reproductive Medicine
  • Hematology

Background:

  • Sickle cell disease (SCD) is a genetic blood disorder affecting millions worldwide.
  • Preimplantation genetic testing (PGT) offers a way to screen embryos for genetic conditions before implantation.
  • Awareness of PGT for SCD among affected families is not well understood.

Purpose of the Study:

  • To assess parental awareness and attitudes towards PGT for SCD.
  • To evaluate the impact of educational interventions on PGT knowledge and perception.

Main Methods:

  • A cohort of parents with children diagnosed with SCD received an educational handbook on PGT.
  • Anonymous surveys were administered post-clinic visit to gauge awareness and attitudes.
  • Data analysis included descriptive statistics of survey responses.

Main Results:

  • Only 24% of parents were previously aware of PGT for SCD.
  • Post-education, 97% deemed PGT information important for parents of children with SCD.
  • 91% of parents interested in future pregnancies would consider PGT if insurance covered it.

Conclusions:

  • There is a significant lack of awareness regarding PGT for SCD among parents.
  • Clinic-based education effectively highlights the value of PGT information.
  • Healthcare providers should proactively discuss PGT as a reproductive option for families affected by SCD.
Abstract

Keywords:
assisted reproductive technologygenetic counselingpreimplantation genetic diagnosisreproductive choicessickle cell anemia

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