Clinical Management Guidelines for Friedreich Ataxia (FRDA)

Topic 13.2. Planning for pregnancy

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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

13.2 Planning for pregnancy
13.2.1 Carrier testing of reproductive partners
Timing of pregnancy

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.


13.2 Planning for pregnancy

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).

Women with FRDA can have uncomplicated pregnancies that do not necessarily lead to deterioration in disease-related symptoms, although this may at least partly reflect an inherent selection bias in those who become pregnant (1). However, there are some specific considerations for a woman with FRDA and her partner when planning for pregnancy.

13.2.1 Carrier testing of reproductive partners

The availability of testing for carrier status of reproductive partners should be made known to couples where one member has FRDA. If testing is requested, the carrier status of the unaffected partner should be established prior to conception in order to advise the couple of the risk of having a child with FRDA and to offer appropriate counselling. Please refer to Chapter 11 for further discussion about genetic issues; in particular, carrier testing.

Timing of pregnancy

A retrospective review of 31 women with FRDA who experienced pregnancy found that it was easier for women in the earlier stages of the disease to care for children (1).

 
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.
Testing for carrier status of reproductive partners should be made available to couples where one member has Friedreich ataxia, prior to conception in order to advise the couple of the risk of having a child with Friedreich ataxia and to offer appropriate counseling.


When possible, it is advisable for women to have children earlier in their disease course.

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).
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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.

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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.

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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.