A retrospective study on the efficacy of prenatal diagnosis for pregnancies at risk of mitochondrial DNA disorders
- Resource Type
- Article
- Authors
- Steffann, Julie; Monnot, Sophie; Magen, Maryse; Assouline, Zahra; Gigarel, Nadine; Ville, Yves; Salomon, Laurent; Bessiere, Bettina; Martinovic, Jelena; Rötig, Agnès; Bengoa, Joana; Borghèse, Roxana; Munnich, Arnold; Barcia, Giulia; Bonnefont, Jean-Paul
- Source
- Genetics in Medicine; April 2021, Vol. 23 Issue: 4 p720-731, 12p
- Subject
- Language
- ISSN
- 10983600; 15300366
Prenatal diagnosis of mitochondrial DNA (mtDNA) disorders is challenging due to potential instability of fetal mutant loads and paucity of data connecting prenatal mutant loads to postnatal observations. Retrospective study of our prenatal cohort aims to examine the efficacy of prenatal diagnosis to improve counseling and reproductive options for those with pregnancies at risk of mtDNA disorders.