Case report: birth of healthy twins after preimplantation genetic diagnosis of propionic acidemia

Abstract

Preimplantation genetic diagnosis represents a valid reproductive option for couples affected of propionic acidemia, in order to avoid transmission to offspring.

Propionyl-CoA carboxylase – A review

“…The parents of a child with PA should be informed to be cautiously aware when the individuals have illnesses, even with mild symptoms, that these may lead to hypercatabolic state and metabolic decompensation. Apart from management of the individuals themselves, genetic counselling should be performed in order to help individuals’ families cope with the disease and also carrier detection, family planning and prenatal diagnosis [1, 110, 115]. …”

Clinical, Genetic and Magnetic Resonance Findings in an Infant Affected by Propionic Acidemia

“…Also, the hypomyelination, white-matter atrophy could be revealed in the same time [3]. Magnetic resonance spectroscopy and diffusion weighted imaging may indicate some inherited metabolic diseases firstly and observe the changes after onset of therapy [4][5][6]. The MRI of the boy showed diffused cerebral atrophy due to delayed diagnosis and therapy of propionic academia which may suggest poor prognosis.…”

Preimplantation genetic diagnosis for cystic fibrosis: a case report

“…Those with the disease are asymptomatic and couples become aware of the problem only when they experience this in their children, on his/her family or during previous investigations. (13) For this reason, the PGD associated with IVF/ICSI in a risk situation, seems to be the only way to avoid recurrence. (14) …”

“…Os portadores são assintomáticos e os casais somente têm consciência do problema quando já tiverem filhos afetados, algum parente acometido pela doença ou se houve investigação prévia do casal. (13) Por essa razão, o PGD, associado à FIV/ICSI, parece ser a única maneira de evitar a recorrência. (14) …”