Paul de Laat1, Leanne H J Fleuren2, Mireille N Bekker3, Jan A M Smeitink2, Mirian C H Janssen4. 1. Radboudumc Amalia Children's Hospital, Department of Pediatrics, Nijmegen Center for Mitochondrial Disorders, Nijmegen, The Netherlands. Electronic address: paul.delaat@radboudumc.nl. 2. Radboudumc Amalia Children's Hospital, Department of Pediatrics, Nijmegen Center for Mitochondrial Disorders, Nijmegen, The Netherlands. 3. Radboudumc, Department of Obstetrics and Gynecology, Nijmegen, The Netherlands. 4. Radboudumc Amalia Children's Hospital, Department of Pediatrics, Nijmegen Center for Mitochondrial Disorders, Nijmegen, The Netherlands; Radboudumc, Department of Internal Medicine, Nijmegen, The Netherlands.
Abstract
INTRODUCTION: The mitochondrial DNA m.3243A>G mutation is the most prevalent mutation causing mitochondrial disease in adult patients. Aside from some case reports, there are no studies on obstetric complications in a cohort of m.3243A>G carriers. We aimed to identify the prevalence of obstetric complications in a cohort of women carrying the m.3243A>G mutation. METHODS: All female carriers of the m.3243A>G mutation known from our previous national inventory were sent a questionnaire regarding their obstetric history. Data were compared to national references. Data from the national inventory, including NMDAS (disease severity) scores and heteroplasmy levels in urinary epithelial cells (UEC) were used to stratify women. RESULTS: Sixty women participated, the mean age was 47 years (range 20-70), mean NMDAS was 14.6 (range 0-46), and mean heteroplasmy percentage in UEC was 19.9% (range 5-85%). Ninety-eight pregnancies in 46 women were reported. Twenty-three (25.3%) had a premature delivery and five of them (5.5%) had a gestation of ≤ 32 weeks and eleven of the women (12%) suffered from preeclampsia. No different heteroplasmy level was found in the women with preeclampsia. Nine pregnancies (11%) were complicated by gestational diabetes. DISCUSSION: Obstetric complications occur frequently in carriers of the m.3243A>G mutation. Proper guidance during pregnancies and early detection of possible obstetric complications are needed. As techniques to prevent transmission of mitochondrial mutations are studied it is important to know the possible complications patients may experience from the ensuing pregnancy.
INTRODUCTION: The mitochondrial DNA m.3243A>G mutation is the most prevalent mutation causing mitochondrial disease in adult patients. Aside from some case reports, there are no studies on obstetric complications in a cohort of m.3243A>G carriers. We aimed to identify the prevalence of obstetric complications in a cohort of women carrying the m.3243A>G mutation. METHODS: All female carriers of the m.3243A>G mutation known from our previous national inventory were sent a questionnaire regarding their obstetric history. Data were compared to national references. Data from the national inventory, including NMDAS (disease severity) scores and heteroplasmy levels in urinary epithelial cells (UEC) were used to stratify women. RESULTS: Sixty women participated, the mean age was 47 years (range 20-70), mean NMDAS was 14.6 (range 0-46), and mean heteroplasmy percentage in UEC was 19.9% (range 5-85%). Ninety-eight pregnancies in 46 women were reported. Twenty-three (25.3%) had a premature delivery and five of them (5.5%) had a gestation of ≤ 32 weeks and eleven of the women (12%) suffered from preeclampsia. No different heteroplasmy level was found in the women with preeclampsia. Nine pregnancies (11%) were complicated by gestational diabetes. DISCUSSION: Obstetric complications occur frequently in carriers of the m.3243A>G mutation. Proper guidance during pregnancies and early detection of possible obstetric complications are needed. As techniques to prevent transmission of mitochondrial mutations are studied it is important to know the possible complications patients may experience from the ensuing pregnancy.
Authors: Nicholas Crawford; D'Arcy Prendergast; John W Oehlert; Gary M Shaw; David K Stevenson; Nadav Rappaport; Marina Sirota; Sarah A Tishkoff; Neal Sondheimer Journal: J Pediatr Date: 2017-12-14 Impact factor: 4.406
Authors: Sumit Parikh; Amy Goldstein; Amel Karaa; Mary Kay Koenig; Irina Anselm; Catherine Brunel-Guitton; John Christodoulou; Bruce H Cohen; David Dimmock; Gregory M Enns; Marni J Falk; Annette Feigenbaum; Richard E Frye; Jaya Ganesh; David Griesemer; Richard Haas; Rita Horvath; Mark Korson; Michael C Kruer; Michelangelo Mancuso; Shana McCormack; Marie Josee Raboisson; Tyler Reimschisel; Ramona Salvarinova; Russell P Saneto; Fernando Scaglia; John Shoffner; Peter W Stacpoole; Carolyn M Sue; Mark Tarnopolsky; Clara Van Karnebeek; Lynne A Wolfe; Zarazuela Zolkipli Cunningham; Shamima Rahman; Patrick F Chinnery Journal: Genet Med Date: 2017-07-27 Impact factor: 8.822
Authors: C L Feeney; A Z Lim; E Fagan; A Blain; A Bright; J Maddison; H Devine; J Stewart; R W Taylor; G S Gorman; D M Turnbull; V Nesbitt; R McFarland Journal: BJOG Date: 2019-03-27 Impact factor: 6.531