Clinical outcome of preimplantation genetic diagnosis for cystic fibrosis: the Brussels' experience

Abstract

Preimplantation genetic diagnosis is an alternative for prenatal diagnosis that makes it possible to perform the diagnosis of a chromosomal or monogenic disorder at the preimplantation embryo level. Cystic fibrosis is one of the monogenic diseases for which PGD can be performed. In this study, we looked at the requests and PGD cycles for this particular disorder over an 11-year period. Sixty-eight percent of the requests eventually led to at least one complete PGD cycle. In 80% of the cycles, an embryo transfer was performed and an ongoing pregnancy was obtained in 22.2% of the cycles with oocyte retrieval. After embryo transfer, a couple had 27.8% chance of giving birth to a liveborn child. No misdiagnosis was recorded. The rate of perinatal deaths/stillborn children was relatively high, but no excess of major congenital anomalies was observed in the surviving children.

Preimplantation genetic diagnosis for cystic fibrosis: a case report

“…In their study 461 embryos were submitted to biopsy and among 25 newborns, no child was diagnosed with CF. (16) …”

“…No total, 461 embriões foram submetidos à biópsia e, ao final do estudo, dentre os 25 recém-nascidos, não houve nenhum diagnóstico de FC. (16) …”

Newborn screening for cystic fibrosis: evidence for benefit

“…However, not all parents opt for termination, and often the early diagnosis of an affected child has no impact on reproductive decision-making 31. There is also the option of pre-implantation diagnosis with only unaffected embryos being implanted 32. Finally, NBS has an impact for the extended family of a screened infant, as cascade screening can be done to enable family members of reproductive age to find out their own carrier status in good time 33…”

Universal strategy for preimplantation genetic testing for cystic fibrosis based on next generation sequencing

“…CF was the first autosomal monogenic disease to be diagnosed at preimplantation stage [19]. Several preimplantation genetic diagnosis (PGD) centers reported their long-term experience [20,21] on a limited number of CF mutations. From the first report of ESHRE PGD Consortium [22] to the last detailed data collection [23], CF is among the first indications for PGD, today renamed as "preimplantation genetic testing" (PGT).…”