NHS Specialised Service for Rare Mitochondrial Disorders of Adults and Children, Newcastle-upon-Tyne, UK.
Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle-upon-Tyne, UK.
BJOG. 2019 Oct;126(11):1380-1389. doi: 10.1111/1471-0528.15667. Epub 2019 Mar 27.
Mitochondrial disease is a disorder of energy metabolism that affects 1 in 4300 adults in the UK. Pregnancy is associated with physiological demands that have implications for energy metabolism. We were interested to know how pregnancy was affected in women with mitochondrial disease, particularly those with the most common pathogenic mutation m.3243A>G.
Retrospective case-comparison study.
POPULATION/SETTING: Sixty-seven women with genetically confirmed mitochondrial disease from the UK Mitochondrial Diseases Cohort and 69 unaffected women participated.
Participants answered questionnaires regarding each of their pregnancies. Patients were divided into two groups according to genetic mutation, with those harbouring m.3243A>G comprising a single group.
Pregnancy-related complications, mode of delivery, gestational age and birthweight of newborns.
Of 139 live births in the comparison group, 62 were in the m.3243A>G group and 87 were in the 'all other mutations' group. Pregnancies of women with the m.3243A>G mutation had significantly more gestational diabetes (odds ratio [OR] = 8.2, 95% CI 1.3-50.1), breathing difficulties (OR = 7.8, 95% CI 1.0-59.1) and hypertension (OR = 8.2, 95% CI 3.1-21.5) than the comparison group. Only half of the pregnancies in the m.3243A>G group had normal vaginal delivery, with emergency caesarean section accounting for 24.2% of deliveries. Babies were born significantly earlier to mothers harbouring m.3243A>G with 53.3% of them preterm (<37 weeks). These babies were also more likely to require resuscitation and admission.
Women who carried the m.3243A>G mutation appeared to be at higher risk of complications during pregnancies, caesarean section and preterm delivery than the unaffected women or those with other forms of mitochondrial disease.
Pregnant women with mitochondrial disease - m.3243A>G mutation - are at greatly increased risk of complications and preterm delivery.
线粒体疾病是一种影响英国每 4300 名成年人中的 1 人的能量代谢障碍。怀孕与能量代谢有关的生理需求有关。我们想知道线粒体疾病女性的怀孕情况如何，特别是那些最常见的致病性突变 m.3243A>G 的女性。
回顾性病例对照研究。
人群/地点：来自英国线粒体疾病队列的 67 名经基因证实患有线粒体疾病的女性和 69 名未受影响的女性参加了研究。
参与者回答了关于她们每一次怀孕的问卷。根据基因突变将患者分为两组，携带 m.3243A>G 的患者为一组。
与怀孕相关的并发症、分娩方式、新生儿的胎龄和出生体重。
在对照组的 139 例活产中，62 例为 m.3243A>G 组，87 例为“所有其他突变”组。携带 m.3243A>G 突变的女性的妊娠中，妊娠期糖尿病（优势比 [OR] = 8.2，95%CI 1.3-50.1）、呼吸困难（OR = 7.8，95%CI 1.0-59.1）和高血压（OR = 8.2，95%CI 3.1-21.5）的发生率明显更高。m.3243A>G 组只有一半的妊娠能正常阴道分娩，紧急剖宫产占分娩的 24.2%。携带 m.3243A>G 的母亲分娩的婴儿明显更早，53.3%的婴儿早产（<37 周）。这些婴儿也更有可能需要复苏和住院治疗。
携带 m.3243A>G 突变的女性在怀孕期间、剖宫产和早产方面的并发症和剖宫产风险似乎高于未受影响的女性或其他形式的线粒体疾病患者。
患有线粒体疾病的孕妇 - m.3243A>G 突变 - 并发症和早产的风险大大增加。
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