It seems counterintuitive that a couple who has conceived easily, with a family of one or more children, could benefit from IVF. While this is an uncommon event, it does happen that IVF can be a treatment for a couple with normal fertility but with an obstetrical complication or risk.
Dr. Moomjy recently published a case study to educate the medical community that IVF permits genetic testing of the embryo, and ultimately can permit selection of an embryo that has a certain genetic marker that makes it a “low risk embryo”. This case study was of a couple for whom the mother had an antibody that could cross the placenta, bind fetal platelets, and make the baby susceptible to dangerous bleeding prior to delivery. This disease is rare and is called Fetal and Neonatal Alloimmune Thrombocytopenia, or FNAIT. For this couple, the embryonic DNA testing lab, Coopergenomics, was able to customize a DNA test that was able to successfully identify the gene that created platelets that would not bind the maternal antibodies. The result was a pregnancy with an unaffected fetus, a mother who was relieved to have a pregnancy without invasive diagnostic and therapeutic interventions, and a healthy baby delivered at term, vaginally. While preimplantation genetic testing for a single gene (or monogenic diseases) has been employed for more than 20 years, this was the first published case of using IVF with PGT for this rare disease of FNAIT. It was the mother who insisted that we publish this case as none of her previous consultants were aware of this option. This case also demonstrates that with great science, creativity, and individualized care, we can achieve such great outcomes for our patients.
Preimplantation Genetic Testing for a monogenic disorder can prevent live births affected by fetal and neonatal alloimmune thrombocytopenia, Shaw J., Blakemore J., Moomjy M., Pediatric Blood and Cancer 2020 0 (#4399792)
