Clinical Outcome of Preimplantation Genetic Diagnosis
As mentioned in the introduction, after over two decades of application to clinical practice, PGD is no longer a research tool, but become an established procedure, considered by patients as a realistic option to reproduce responsibly without risk of havi
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Clinical Outcome of Preimplantation Genetic Diagnosis
As mentioned in the introduction, after over two decades of application to clinical practice, PGD is no longer a research tool, but become an established procedure, considered by patients as a realistic option to reproduce responsibly without risk of having an affected pregnancy. With such an option, the at-risk couples can achieve the desired family size with no much difference from the couples without the known inherited risk. As will be described below, the available data of approximately hundred thousands of PGD cycles performed by the present time, suggest that the procedure is safe, accurate and reliable, and should be offered to those at need for the procedure, who will otherwise not reproduce because of fear of affected pregnancy or prenatal diagnosis followed by termination of pregnancy [1, 2].
6.1
Safety of PGD
Although the majority of PGD cycles are still performed in the USA and Western Europe, increasing numbers are reported from the Eastern Mediterranean and Asian countries. Indications for PGD are also expanding, with more PGD cases being performed for the conditions that have never been practiced in traditional prenatal diagnosis, such as preimpantation gender determination for social reasons [3–5], common late onset diseases with genetic predisposition, and preimplantation HLA typing. However, the majority of PGD cycles are still performed for chromosomal disorders, with the ratio of PGD
cycles for chromosomal and single gene disorders, approximately 3:1. The clinical outcome data are presently available from 7,126 PGD cycles performed in our center, and from 15,885 PGD cycles collected from 39 different centers by ESHRE PGD Consortium [5]. These resulted in 1,775 (25%) and 2,881 (18%) clinical pregnancies per initiated cycles, respectively, and birth of 4,227 healthy children, overall (1,504 and 2,723, respectively), with the multiple pregnancies observed in over one-third of the cases. The overall congenital malformation rate was under 5%, which is not different from population prevalence, of which only half were attributable to the major abnormalities. No differences were found also in the recent report of the results of a longstanding systematic follow-up study from the world’s second largest PGD center [6], which presented the physical findings at birth and up to 2 months of age for 995 children born after PGD in comparison to 1,507 children born after ICSI. Comparison was made for prematurity, mean birth weight, very low birth weight (
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