Topic 13.4. Management during pregnancy and delivery

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This chapter of the Clinical Management Guidelines for Friedreich Ataxia and the recommendations and best practice statements contained herein were endorsed by the authors and the Friedreich Ataxia Guidelines Panel in 2022.

Topic Contents

13.4 Management during pregnancy and delivery
13.4.1 Fetal and maternal outcomes in FRDA
13.4.2 Surveillance during pregnancy
13.4.3 Friedreich ataxia-related changes with pregnancy
13.4.4 Planning for caring for the infant
13.4.5 Management of complications during pregnancy
13.4.6 Management during delivery

Disclaimer / Intended Use / Funding

Disclaimer
The Clinical Management Guidelines for Friedreich ataxia (‘Guidelines’) are protected by copyright owned by the authors who contributed to their development or said authors’ assignees.

These Guidelines are systematically developed evidence statements incorporating data from a comprehensive literature review of the most recent studies available (up to the Guidelines submission date) and reviewed according to the Grading of Recommendations, Assessment Development and Evaluations (GRADE) framework © The Grade Working Group.

Guidelines users must seek out the most recent information that might supersede the diagnostic and treatment recommendations contained within these Guidelines and consider local variations in clinical settings, funding and resources that may impact on the implementation of the recommendations set out in these Guidelines.

The authors of these Guidelines disclaim all liability for the accuracy or completeness of the Guidelines, and disclaim all warranties, express or implied to their incorrect use.

Intended Use
These Guidelines are made available as general information only and do not constitute medical advice. These Guidelines are intended to assist qualified healthcare professionals make informed treatment decisions about the care of individuals with Friedreich ataxia. They are not intended as a sole source of guidance in managing issues related to Friedreich ataxia. Rather, they are designed to assist clinicians by providing an evidence-based framework for decision-making.

These Guidelines are not intended to replace clinical judgment and other approaches to diagnosing and managing problems associated with Friedreich ataxia which may be appropriate in specific circumstances. Ultimately, healthcare professionals must make their own treatment decisions on a case-by-case basis, after consultation with their patients, using their clinical judgment, knowledge and expertise.
Guidelines users must not edit or modify the Guidelines in any way – including removing any branding, acknowledgement, authorship or copyright notice.

Funding
The authors of this document gratefully acknowledge the support of the Friedreich Ataxia Research Alliance (FARA). The views and opinions expressed in the Guidelines are solely those of the authors and do not necessarily reflect the official policy or position of FARA.


13.4 Management during pregnancy and delivery

Lisa Friedman, Kimberly Schadt and David Lynch are acknowledged for much of the content of this chapter, taken from the previous version of the guidelines (2014).

13.4.1 Fetal and maternal outcomes in FRDA

Two studies have evaluated pregnancy in larger cohorts of women with FRDA. A short report by MacKenzie and colleagues (5) detailed 17 women with 17 pregnancies and a retrospective analysis by Friedman and colleagues (1) studied 31 women who had 65 pregnancies resulting in 56 live offspring. Findings from these studies are summarized below.

Spontaneous abortion occurred in 13.8% of the Friedman cohort (1), a smaller percentage than the estimated frequency in the United States of America (USA) (8). The spontaneous abortions occurred at an average of 8.2 weeks gestation. There was no information to suggest any of the spontaneous abortions were related to FRDA and all women who experienced spontaneous abortion in the Friedman cohort had other successful pregnancies.

Pre-term birth occurred in 13% of the Friedman cohort (1). This was defined as babies born before 37 weeks gestation. In this study, the earliest birth was 35 weeks (considered a late preterm). In the Mackenzie study (5), all babies were born later than 36 weeks gestation. In the general population (USA), the rate of preterm birth during a similar time period was about 12% (9). Thus, the rate seen in the Friedman study is largely comparable.

Impaired glucose tolerance occurred in 12.9% of the Friedman cohort (1) and 5.8% of the Mackenzie cohort (5). In each cohort, one woman developed gestational diabetes during pregnancy. The remaining women were managed with dietary modification. In the general USA population, the estimated incidence of gestational diabetes during pregnancy is reported to be as high as 18% (10). Thus, the numbers reported in women with FRDA appear to be lower than in the general population, although small sample sizes in the FRDA studies should be noted.

Pregnancy-induced hypertension occurred in 11.8% of the Mackenzie cohort (5) and 1.9% of the Friedman cohort (1). In the general population, the estimated incidence during pregnancy is between 5% and 7% (11).

Preeclampsia occurred in 3.7% of the Friedman cohort (1) and none of the Mackenzie cohort (5). In the general population, the estimated incidence during pregnancy is approximately 5% (12).

13.4.2 Surveillance during pregnancy

Glucose tolerance testing – Individuals with FRDA are predisposed to the development of diabetes. Therefore, it is advisable that a woman’s glucose levels be carefully monitored throughout pregnancy. As is standard with any pregnancy, glucose tolerance testing should be performed between 24-28 weeks of gestation (13) or earlier for individuals deemed to be at high risk by their health practitioner.

Cardiac management – Individuals with FRDA are predisposed to the development of cardiomyopathy, arrhythmias and other cardiac abnormalities. Thus, close monitoring by a cardiologist during pregnancy is essential.

Neurologic exam testing – Changes in the patient’s FRDA disease status can be monitored prospectively by a trained physician using the Friedreich Ataxia Rating Scale (FARS) exam or another suitable neurologic exam. This will allow for quantitative tracking of the neurologic disease changes that occur with pregnancy. One would not anticipate permanent changes in neurologic disease status as a direct result of pregnancy; however, women may experience transient changes which should be monitored and followed by a physician to assure that level of functioning and disease status return to pre-pregnancy state.

13.4.3 Friedreich ataxia-related changes with pregnancy

In the Friedman and colleagues study (1), women were asked to retrospectively rate the changes in their FRDA they perceived during pregnancy: 7.1% of women felt pregnancy made their disease better, citing a feeling of improved balance and coordination; 42.9% of women felt pregnancy made their FRDA worse, most commonly experiencing increased fatigue, urinary urgency, speech, balance and coordination difficulties; 50% of women felt pregnancy did not alter their FRDA.

13.4.4 Planning for caring for the infant

During pregnancy consideration should be given to the requirements of caring for a baby post-partum, including any adaptions of the environment that may be required to facilitate safe and effective care of the infant. Consultation with allied health clinicians regarding equipment requirements and/or specific techniques related to caring for the baby may be of benefit (14).

13.4.5 Management of complications during pregnancy

As described above, complications of pregnancy may arise and need to be managed appropriately. Several case reports detail specific management considerations for women with FRDA.

Preeclampsia

One case study by Bruner and colleagues (3) described profound motor weakness and respiratory depression precipitated by the use of magnesium sulfate to treat preeclampsia. The authors hypothesized that magnesium may act synergistically with the underlying neuromuscular abnormalities found in FRDA to cause acute profound weakness. An alternative treatment may be phenytoin (2), although this has not been tried in any studies to date.

Pre-term labor

Although beta-agonist tocolytic agents are often used in an attempt to arrest early labor, these agents may be problematic in women with FRDA due to underlying cardiac and/or endocrine pathologies. Some experts have speculated that Indomethacin may be one potential alternative although no research exists on this topic to date (2).

Deep vein thrombosis

One case study detailed the development of deep vein thrombosis (DVT) in a 23-year old gravida 3 para 1 female with FRDA at 34 weeks gestation (2). The patient was treated with enoxaparin but went on to develop a pulmonary embolism. She had spontaneous vaginal delivery at 38 weeks. Upon birth, her infant was found to have two ventricular septal defects and coarctation of the aorta, which required surgical correction. The authors stress that during pregnancy, heparin is the mainstay of treatment for DVT as Coumadin (warfarin) crosses the placental membrane and is a known teratogen.

13.4.6 Management during delivery

In the Friedman cohort (1), 78% of births were vaginal, while 22.2% were cesarean sections, including two elective cesarean sections. The cesarean section rate was below the national average in the USA of approximately 25% (15). In the Friedman study, 87% of babies were born at term, with 13% born pre-term (between 35 and 37 weeks).

In the Friedman cohort (1), the average birth weight of the babies was 7 lb 7.5 oz (3390 g), with 88.9% of babies born normal weight (defined as between 6 and 9 lbs (2720 to 4080 g). Ninety per cent of newborns had an Apgar score between 7 and 10 at one minute after birth. All babies on whom data was available had an Apgar score between 7 and 10 at 5 minutes after birth.

From the Friedman cohort (1), the average length of hospital stay for the mother following delivery was 2.6 days and 94.4% of babies were discharged from the hospital with their mothers. Three babies had longer stays: one was febrile and spent two days in the NICU for transient tachypnea of the newborn; another spent 10 days in the NICU for a small pneumothorax. Insufficient medical records were available to evaluate the cause of the third infant’s prolonged hospitalization. At the time of this study, in the USA, following uncomplicated deliveries it was standard for mothers and infants to remain hospitalized for 48 hours following a vaginal delivery and 96 hours following a caesarean section (16). Thus, the outcomes seen in women with FRDA follow the expected time trajectory.

Fetal distress was found as a complication in 7.4% of laboring mothers in the Friedman cohort (1). In the general population, it is reported to be approximately 2% (17). The reason for the elevation among the babies of women with FRDA is unclear. However, during delivery, it is imperative that the baby be closely monitored.

Despite the sensory and proprioceptive loss that occurs in FRDA, a vaginal delivery can still be expected of most pregnancies. The vast majority of babies born to mothers with FRDA are at healthy birth weights and can be expected to be discharged home with their mothers following the traditionally recommended length of stay (48 hours for vaginal delivery, 96 hours for caesarean section). As women with FRDA are potentially at higher risk for fetal distress during delivery, close fetal monitoring during this stage is imperative.

Management if anesthesia is required during delivery

There are reports of the successful administration of both epidural and spinal anesthesia to women with FRDA during delivery (4, 5).

 
Jump to Best practice statements

Please note: Recommendations are systematically developed evidence statements incorporating data from a comprehensive literature review of the most recent studies available (up to the Guidelines submission date) and reviewed according to the Grading of Recommendations, Assessment Development and Evaluations (GRADE) framework © The Grade Working Group. Best Practice Statements are commonly accepted practices, as such formal rating of the quality of evidence by the GRADE process is not indicated. In addition if recommendations from the 2014 guidelines were deemed still relevant, although unable to undergo the scrutiny from a GRADE framework, they were also included as best practice statements.
Women with Friedreich ataxia should be encouraged to proceed with pregnancy if they wish to do so and if their cardiac status is adequate (18).


Glucose tolerance testing should be performed between 24 and 28 weeks of gestation or earlier for individuals deemed to be at high risk by their practitioner (13).


Women with Friedreich ataxia should have close monitoring by a cardiologist during pregnancy.


There is insufficient evidence to determine if magnesium sulfate can be safely administered to women with Friedreich ataxia with preeclampsia.


There is insufficient evidence to determine if common beta-agonist tocolytic agents can be safely administered to women with Friedreich ataxia experiencing pre-term labor.


Pregnant women with Friedreich ataxia and deep venous thrombosis should be treated with heparin as opposed to warfarin (2).


Vaginal delivery can be expected for most pregnancies in women with Friedreich ataxia (1).


Close fetal monitoring during delivery is recommended (19).


If cesarean section is medically indicated, epidural or spinal anesthesia can generally be safely used in women with Friedreich ataxia (4, 5).

Lisa Friedman, Kimberly Schadt and David Lynch are acknowledged for much of the content of this chapter, taken from the previous version of the guidelines (2014).
1. Friedman LS, Paulsen EK, Schadt KA, Brigatti KW, Driscoll DA, Farmer JM, et al. Pregnancy with Friedreich ataxia: a retrospective review of medical risks and psychosocial implications. Am J Obstet Gynecol. 2010;203(3):224 e1-5.

2. Armstrong BA, Howat PW. Pregnancy in a woman with Friedreich’s ataxia complicated by pulmonary embolism. Aust N Z J Obstet Gynaecol. 2002;42(1):88-90.

3. Bruner JP, Yeast JD. Pregnancy associated with Friedreich ataxia. Obstet Gynecol. 1990;76(5 Pt 2):976-7.

4. Kubal K, Pasricha SK, Bhargava M. Spinal anesthesia in a patient with Friedreich’s ataxia. Anesth Analg. 1991;72(2):257-8.

5. MacKenzie WE. Pregnancy in women with Friedreich’s ataxia. British Medical Journal Clinical Research Ed. 1986;293(6542):308.

6. Siu SC, Sermer M, Harrison DA, Grigoriadis E, Liu G, Sorensen S, et al. Risk and predictors for pregnancy-related complications in women with heart disease. Circulation. 1997;96(9):2789-94.

7. Schaufelberger M. Cardiomyopathy and pregnancy. Heart. 2019;105(20):1543-51.

8. Hammerslough CR. Estimating the probability of spontaneous abortion in the presence of induced abortion and vice versa. Public Health Rep. 1992;107(3):269-77.

9. American College of Obstetricians and Gynecologists. ACOG Practice Bulletin. Assessment of risk factors for preterm birth. Clinical management guidelines for obstetrician-gynecologists. Number 31, October 2001. (Replaces Technical Bulletin number 206, June 1995; Committee Opinion number 172, May 1996; Committee Opinion number 187, September 1997; Committee Opinion number 198, February 1998; and Committee Opinion number 251, January 2001). . Obstet Gynecol. 2001;98(4):709-16.

10. International Association of Diabetes and Pregnancy Study Groups Consensus Panel, Metzger BE, Gabbe SG, Persson B, Buchanan TA, Catalano PA, et al. International association of diabetes and pregnancy study groups recommendations on the diagnosis and classification of hyperglycemia in pregnancy. Diabetes Care. 2010;33(3):676-82.

11. Lindheimer MD, Taler SJ, Cunningham FG. Hypertension in pregnancy. J Am Soc Hypertens. 2008;2(6):484-94.

12. Lydakis C, Beevers M, Beevers DG, Lip GY. The prevalence of pre-eclampsia and obstetric outcome in pregnancies of normotensive and hypertensive women attending a hospital specialist clinic. Int J Clin Pract. 2001;55(6):361-7.

13. American Diabetes Association. 2. Classification and diagnosis of diabetes: Standards of Medical Care in Diabetes-2021. Diabetes Care. 2021;44:S15-S33.

14. Dommergues M, Candilis D, Becerra L, Thoueille E, Cohen D, Viaux-Savelon S. Childbirth and motherhood in women with motor disability due to a rare condition: an exploratory study. Orphanet J Rare Dis. 2021;16(1):176.

15. Cunningham F, Williams J. Cesarean delivery and peripartum hysterectomy. 22nd ed. New York: McGraw Hill; 2005.

16. Liu Z, Dow WH, Norton EC. Effect of drive-through delivery laws on postpartum length of stay and hospital charges. J Health Econ. 2004;23(1):129-55.

17. Paul RH, Miller DA. Cesarean birth: how to reduce the rate. Am J Obstet Gynecol. 1995;172(6):1903-7; discussion 7-11.

18. Miyasaki JM, Aldakheel A. Movement disorders in pregnancy. Continuum (Minneap Minn). 2014;20(1 Neurology of Pregnancy):148-61.

19. The Royal Australian and New Zealand College of Obstetricians and Gynaecologists. Intrapartum fetal surveillance. Clinical guidelines – fourth edition. www.ranzcog.edu.au: RANZCOG; 2019.

These Guidelines are systematically developed evidence statements incorporating data from a comprehensive literature review of the most recent studies available (up to the Guidelines submission date) and reviewed according to the Grading of Recommendations, Assessment Development and Evaluations (GRADE) framework © The Grade Working Group.

This chapter of the Clinical Management Guidelines for Friedreich Ataxia and the recommendations and best practice statements contained herein were endorsed by the authors and the Friedreich Ataxia Guidelines Panel in 2022.

It is our expectation that going forward individual topics can be updated in real-time in response to new evidence versus a re-evaluation and update of all topics simultaneously.