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FISH for Pre-implantation Genetic Diagnosis
Published on: February 24, 2011
Preimplantation genetic diagnosis for the Kell genotype
Yury Verlinsky1, Svetlana Rechitsky, Seckin Ozen
1Reproductive Genetics Institute, Chicago, Illinois, USA.
Fertility and Sterility
|October 15, 2003
Summary
Preimplantation genetic diagnosis (PGD) successfully prevented hemolytic disease of the newborn (HDN) by selecting Kell 1 (K1) allele-free embryos for transfer, resulting in healthy twins. This offers a new option for at-risk couples.
Area of Science:
- Reproductive Genetics
- Maternal-Fetal Medicine
- Embryology
Background:
- Hemolytic disease of the newborn (HDN) poses risks due to maternofetal incompatibility, particularly with Kell blood group antigens.
- Sensitized mothers carrying antibodies against fetal Kell antigens require advanced reproductive strategies.
Observation:
- Two couples with a history of HDN due to Kell 1 (K1)/Kell 2 (K2) genotype underwent in vitro fertilization (IVF).
- Single blastomere biopsies were performed on cleavage-stage embryos to test for the paternal K1 allele.
Findings:
- Preimplantation genetic diagnosis (PGD) identified 18 out of 36 embryos as K1 allele-free.
- Transfer of K1 allele-free embryos resulted in a successful twin pregnancy, with both infants born healthy and confirmed K1 allele-free.
Implications:
- PGD for K1 genotype is a viable strategy to prevent HDN in pregnancies with Kell-sensitized mothers.
- This technique provides a crucial reproductive option for couples at risk of transmitting Kell incompatibility.
- Successful PGD ensures the birth of healthy infants, avoiding the complications associated with HDN.

