Genetic counseling for childless women at risk for Duchenne muscular dystrophy

Eggers, Sabine; Pavanello, Rita de Cássia M.; Passos‐Bueno, Maria Rita; Zatz, Mayana

doi:10.1002/(sici)1096-8628(19991029)86:5<447::aid-ajmg10>3.0.co;2-p

Cited by 14 publications

(14 citation statements)

References 17 publications

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“…Published findings suggest that a mother's desired number of children [Hildes et al, 1993], receipt of genetic counseling [Abramovsky et al, 1980;Rona et al, 1994;Eggers et al, 1999;Meldrum et al, 2007], perception of disease risk [Hutton and Thompson, 1976;Abramovsky et al, 1980;Wertz et al, 1984], concerns about the effects of an affected child on one's social and personal life and problems caring for the child [Wertz et al, 1984;Frets et al, 1991], and disapproval of relatives [Frets et al, 1991], may play a role in decisions about reproduction. Published findings suggest that a mother's desired number of children [Hildes et al, 1993], receipt of genetic counseling [Abramovsky et al, 1980;Rona et al, 1994;Eggers et al, 1999;Meldrum et al, 2007], perception of disease risk [Hutton and Thompson, 1976;Abramovsky et al, 1980;Wertz et al, 1984], concerns about the effects of an affected child on one's social and personal life and problems caring for the child [Wertz et al, 1984;Frets et al, 1991], and disapproval of relatives [Frets et al, 1991], may play a role in decisions about reproduction.…”

Section: Discussionmentioning

confidence: 99%

Reproductive patterns among mothers of males diagnosed with Duchenne or Becker muscular dystrophy

Nabukera¹,

Romitti²,

Caspers³

et al. 2012

American J of Med Genetics Pt A

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Diagnosis of a child with Duchenne or Becker muscular dystrophy (DBMD) may impact future maternal reproductive choice; however, little is known about the reproductive patterns of mothers with a male child diagnosed with DBMD. Using population-based surveillance data collected by the muscular dystrophy surveillance, tracking, and research network, the proportion of mothers who conceived and delivered a live birth following the diagnosis of DBMD in an affected male child and factors associated with such reproductive choice were identified. To accomplish this, maternal demographic data were linked to birth certificate data to construct the reproductive history for 239 mothers. Univariable and bivariable analyses were conducted to determine the proportion of mothers delivering a live birth and associated factors. By the time of the current study, 96 (40.2%) of the 239 mothers had at least one live birth following delivery of their oldest affected male child; 53 (22.2%) of these mothers had a live birth before and 43 (18.0%) had a live birth after DBMD diagnosis of a male child. Mothers with a live birth after diagnosis were significantly younger at diagnosis of the oldest affected male child (26.2 ± 4.2 years vs. 31.5 ± 5.5 years), and were less likely to be white non-Hispanic compared to those with no live birth after diagnosis. These results suggest that about one in five mothers deliver a live birth subsequent to DBMD diagnosis in a male child. Maternal age and race/ethnicity were associated with this reproductive choice.

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Section: Discussionmentioning

confidence: 99%

Reproductive patterns among mothers of males diagnosed with Duchenne or Becker muscular dystrophy

Nabukera¹,

Romitti²,

Caspers³

et al. 2012

American J of Med Genetics Pt A

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“…Based on these findings, surveillance guidelines published in 2005 recommend that women who are carriers for Duchenne or Becker muscular dystrophy should be counseled about their risk to develop cardiomyopathy and should receive complete cardiac evaluation every five years [7]. Carrier testing also has important ramifications on reproductive health management, including frequency of pregnancy terminations, reduction in number of pregnancies in at-risk women compared to control populations, percent of women who avoided pregnancies and limited their family size due to their risk, and rates of tubal ligation before and after genetic counseling in at-risk women [8–11]. Thus, determining carrier status has implications for personal and reproductive health management; however, limited research exists regarding risk awareness among carriers or women at risk to be carriers.…”

Section: Introductionmentioning

confidence: 99%

Knowledge of carrier status and barriers to testing among mothers of sons with Duchenne or Becker muscular dystrophy

Bogue

Peay

Martin

et al. 2016

Neuromuscular Disorders

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Our study objective was to survey female carriers for Duchenne and Becker muscular dystrophy to identify barriers to carrier testing and the impact of carrier risk knowledge on cardiac and reproductive health management. We surveyed women who have or had biological sons with Duchenne or Becker muscular dystrophy and were enrolled in the US DuchenneConnect patient registry, with questions assessing knowledge of carrier status and recurrence risk, knowledge of care standards for carriers, and barriers to testing. Of the 182 eligible respondents, 25% did not know their carrier status and 14% incorrectly classified themselves as not at risk. Cost of testing was the most commonly identified barrier to testing. Women reporting unknown carrier status were 13 times as likely to express uncertainty regarding their recurrence risk compared to women reporting positive carrier status. 37% of women at an increased risk for cardiomyopathy had never had an echocardiogram. Women who were certain of their positive carrier status were twice as likely to have had an echocardiogram in the last five years compared to women with unknown carrier status. Future research on reducing barriers to counseling and carrier testing, such as cost, may improve care standard adherence.

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“…It has been suggested that extended families with multiple affected members (which are more likely in X-linked than autosomal recessive disease) may be more knowledgeable about inheritance and reproductive risks. 7 While these suppositions seem logical and clinically predicted, they remain untested.…”

mentioning

confidence: 99%

“…Numerous studies have measured understanding of inheritance and reproductive risks, [7][8][9][10][11][12][13][14][15][16][17][18] worry about reproductive risks, 19 -21 parental guilt and blame, 22,23 and stigmatization, 20,24,25 in both X-linked and autosomal diseases. However, as there has been little standardization of the questions used to measure these concepts in different populations, nor comparisons between autosomal and X-linked recessive diseases, the influence of mode of inheritance has not been determined in a controlled fashion.…”

mentioning

confidence: 99%

How does the mode of inheritance of a genetic condition influence families? A study of guilt, blame, stigma, and understanding of inheritance and reproductive risks in families with X-linked and autosomal recessive diseases

James

Hadley

Holtzman

et al. 2006

Genetics in Medicine

123

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Purpose: While the mode of inheritance of a genetic condition has long been considered to have not only medical, but also psychosocial consequences for families, this supposition has never been tested. Methods: We surveyed 112 members of 51 families (59% response) with chronic granulomatous disease to determine the influence of mode of inheritance on parents', siblings', and patients' (1) knowledge of inheritance and reproductive risk; (2) concern about risk to future family-members; (3) feelings of guilt and blame; and (4) feelings of stigmatization.Ninety-six members of 51 families (49% response) with Duchenne/Becker muscular dystrophy and spinal muscular atrophy types II/III were also studied. Results: X-linked families had better understanding of inheritance (P Ͻ 0.001) and reproductive risks (P Ͻ 0.01). X-linked mothers worried more about risks to future generations; other autosomal-recessive family members were as worried. X-linked mothers were more likely to feel guilty (P Ͻ 0.01) and blame themselves (P Ͻ 0.001). X-linked fathers blamed their child's mother (P Ͻ 0.05) and X-linked mothers felt more blamed by the father (P Ͻ 0.01). X-linked family-members were more likely to consider being a carrier stigmatizing (P Ͻ 0.05). Conclusion: When providing genetic counseling, attention should be given to guilt and blame in X-linked families and understanding reproductive risks in autosomal recessive families. Genet Med 2006: 8(4):234-242.

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Genetic counseling for childless women at risk for Duchenne muscular dystrophy

Cited by 14 publications

References 17 publications

Reproductive patterns among mothers of males diagnosed with Duchenne or Becker muscular dystrophy

Reproductive patterns among mothers of males diagnosed with Duchenne or Becker muscular dystrophy

Knowledge of carrier status and barriers to testing among mothers of sons with Duchenne or Becker muscular dystrophy

How does the mode of inheritance of a genetic condition influence families? A study of guilt, blame, stigma, and understanding of inheritance and reproductive risks in families with X-linked and autosomal recessive diseases

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