Pre-Implantation Genetic Diagnosis (PGD) Services For The Population Of Northern Israel: A Summary Of The First Two Years Of The Reopened Rambam PGD Unit

Introduction

Re-establishment of the first PGD unit in Northern Israel in 2015 has improved access to PGD services to the local families challenged with monogenic disorders and chromosomal abnormalities. The Rambam PGD Unit (RPU) is a collaboration between the Rambam IVF unit and the Genetics Institute.

Aim

To summarize the first two years of activity of the RPU (2015-2017).

Materials and methods

PGD was offered to couples with a defined genetic diagnosis. Biopsy was performed on day 3. Linkage analysis was performed by microsatellite analysis, using nested PCR. FISH analysis was performed for detection of unbalanced translocations. All diagnostic procedures were performed according to ESRHE guidelines. Clinical pregnancies were defined by presence of fetal heartbeats at 6−7 weeks of gestation.

Results

Since February 2015 76 families received PGD counseling at the RPU, and 59 families opted to continue to PGD. Indications included 32 monogenic disorders and balanced translocations. Until February 2017, 37 PGD cycles for 24 families were performed in our unit, including translocations and molecular diagnosis. Of 150 embryos we analyzed, 47 were diagnosed as healthy, of which 42 were transferred in 30 cycles. Eight singleton pregnancies were achieved (28% per ET, 20% IR) with one missed abortion and three pregnancy terminations albeit confirmation of PGD due to unrelated embryo abnormalities.

Conclusions

PGD services are now available at RPU for families from Northern Israel. The rapid assimilation reflects the previously unmet need that is now addressed at RPU, with our aim to expand even further.