February 19th, 2020

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Use of Preimplantation Genetic Diagnosis to Stop Transmission of Cardiac Rhythm Disorder in One Family: A Case Report
Authors:  Addison Alley, M.D., Charles Macri, M.D., and David Frankfurter, M.D.
BACKGROUND: The use of in vitro fertilization (IVF) for infertility is well-described. IVF with preimplantation genetic diagnosis (PGD) for the avoidance of specific familial mutations is becoming more common; however, the use of IVF/PGD to prevent transmission of long QT syndrome has not previously been reported.

CASE: A 37-year-old woman, G2P2, with long QT syndrome (LQTS), a family history of sudden death, and a personal history of cardiac arrhythmia treated with pacemaker and ICD, presented for IVF consultation. The patient had a known SCN5A gene mutation and desired embryo selection to avoid transmission of the mutation to her offspring. The patient and her husband underwent evaluation and treatment in our IVF Center, where controlled ovarian hyperstimulation and IVF followed by preimplantation genetic diagnosis for the SCN5A mutations was carried out. Frozen embryo transfer on 2 occasions resulted in the birth of 2 children without LQTS.

CONCLUSION: We managed 2 pregnancies conceived with IVF and PGD with normal fetuses delivered by planned cesarean delivery at 39 weeks. In both cases the children were born without the SCN5A mutation and with normal heart rhythms. As more disease-causing genes are identified, the application of IVF with PGD will increase.
Keywords:  assisted reproductive technologies, genetic markers, genetics, in vitro fertilization, long QT syndrome, preimplantation genetic diagnosis
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