A series of pregnancies in women with inherited metabolic disease

Janneke G Langendonk; Jonathan C P Roos; Lindsay Angus; Monique Williams; François P J Karstens; Johannes B C de Klerk; Charlé Maritz; Tawfeg Ben-Omran; Catherine Williamson; Robin H Lachmann; Elaine Murphy

doi:10.1007/s10545-011-9389-2

A series of pregnancies in women with inherited metabolic disease

Janneke G Langendonk, Jonathan C P Roos, Lindsay Angus, Monique Williams, François P J Karstens, Johannes B C de Klerk, Charlé Maritz, Tawfeg Ben-Omran, Catherine Williamson, Robin H Lachmann, Elaine Murphy

Women & Children's Health

Research output: Contribution to journal › Article › peer-review

57 Citations (Scopus)

Abstract

In this case series we report 12 pregnancies, in women treated at four centres, illustrating some of the issues that may be encountered during pregnancy by women with inherited metabolic disease. We discuss how specific pregnancy, labour and delivery issues for mothers with methylmalonic acidemia, homocystinuria, propionic acidemia, glutaric acidemia type 1, ornithine transcarbamylase (OTC) deficiency and 3-hydroxy-3-methylglutaric(HMG)-CoA lyase deficiency were managed and the outcome for the mother and child in each case. Eight of the 12 pregnancies resulted in the successful delivery of a liveborn infant. Several women experienced decompensation of their condition during pregnancy or the post-partum period. There was one maternal death in a women with 3-hydroxy-3-methylglutaric(HMG)-CoA lyase deficiency. Pre-pregnancy counselling and co-management of high risk medical patients by obstetricians and specialist physicians with an understanding of the relationship between pregnancy and inherited metabolic disease is essential.

Original language	English
Pages (from-to)	419-424
Number of pages	6
Journal	Journal of Inherited Metabolic Disease
Volume	35
Issue number	3
DOIs	https://doi.org/10.1007/s10545-011-9389-2
Publication status	Published - May 2012

Keywords

Adult
Delivery, Obstetric
Female
Humans
Metabolic Diseases
Obstetrics
Ornithine Carbamoyltransferase Deficiency Disease
Oxo-Acid-Lyases
Pregnancy
Pregnancy Complications
Pregnancy Outcome
Risk
Time Factors
Treatment Outcome

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10.1007/s10545-011-9389-2

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title = "A series of pregnancies in women with inherited metabolic disease",

abstract = "In this case series we report 12 pregnancies, in women treated at four centres, illustrating some of the issues that may be encountered during pregnancy by women with inherited metabolic disease. We discuss how specific pregnancy, labour and delivery issues for mothers with methylmalonic acidemia, homocystinuria, propionic acidemia, glutaric acidemia type 1, ornithine transcarbamylase (OTC) deficiency and 3-hydroxy-3-methylglutaric(HMG)-CoA lyase deficiency were managed and the outcome for the mother and child in each case. Eight of the 12 pregnancies resulted in the successful delivery of a liveborn infant. Several women experienced decompensation of their condition during pregnancy or the post-partum period. There was one maternal death in a women with 3-hydroxy-3-methylglutaric(HMG)-CoA lyase deficiency. Pre-pregnancy counselling and co-management of high risk medical patients by obstetricians and specialist physicians with an understanding of the relationship between pregnancy and inherited metabolic disease is essential.",

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author = "Langendonk, {Janneke G} and Roos, {Jonathan C P} and Lindsay Angus and Monique Williams and Karstens, {Fran{\c c}ois P J} and {de Klerk}, {Johannes B C} and Charl{\'e} Maritz and Tawfeg Ben-Omran and Catherine Williamson and Lachmann, {Robin H} and Elaine Murphy",

year = "2012",

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doi = "10.1007/s10545-011-9389-2",

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AU - Langendonk, Janneke G

AU - Roos, Jonathan C P

AU - Angus, Lindsay

AU - Williams, Monique

AU - Karstens, François P J

AU - de Klerk, Johannes B C

AU - Maritz, Charlé

AU - Ben-Omran, Tawfeg

AU - Williamson, Catherine

AU - Lachmann, Robin H

AU - Murphy, Elaine

PY - 2012/5

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N2 - In this case series we report 12 pregnancies, in women treated at four centres, illustrating some of the issues that may be encountered during pregnancy by women with inherited metabolic disease. We discuss how specific pregnancy, labour and delivery issues for mothers with methylmalonic acidemia, homocystinuria, propionic acidemia, glutaric acidemia type 1, ornithine transcarbamylase (OTC) deficiency and 3-hydroxy-3-methylglutaric(HMG)-CoA lyase deficiency were managed and the outcome for the mother and child in each case. Eight of the 12 pregnancies resulted in the successful delivery of a liveborn infant. Several women experienced decompensation of their condition during pregnancy or the post-partum period. There was one maternal death in a women with 3-hydroxy-3-methylglutaric(HMG)-CoA lyase deficiency. Pre-pregnancy counselling and co-management of high risk medical patients by obstetricians and specialist physicians with an understanding of the relationship between pregnancy and inherited metabolic disease is essential.

AB - In this case series we report 12 pregnancies, in women treated at four centres, illustrating some of the issues that may be encountered during pregnancy by women with inherited metabolic disease. We discuss how specific pregnancy, labour and delivery issues for mothers with methylmalonic acidemia, homocystinuria, propionic acidemia, glutaric acidemia type 1, ornithine transcarbamylase (OTC) deficiency and 3-hydroxy-3-methylglutaric(HMG)-CoA lyase deficiency were managed and the outcome for the mother and child in each case. Eight of the 12 pregnancies resulted in the successful delivery of a liveborn infant. Several women experienced decompensation of their condition during pregnancy or the post-partum period. There was one maternal death in a women with 3-hydroxy-3-methylglutaric(HMG)-CoA lyase deficiency. Pre-pregnancy counselling and co-management of high risk medical patients by obstetricians and specialist physicians with an understanding of the relationship between pregnancy and inherited metabolic disease is essential.

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KW - Metabolic Diseases

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KW - Pregnancy Complications

KW - Pregnancy Outcome

KW - Risk

KW - Time Factors

KW - Treatment Outcome

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EP - 424

JO - Journal of Inherited Metabolic Disease

JF - Journal of Inherited Metabolic Disease

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ER -

A series of pregnancies in women with inherited metabolic disease

Abstract

Keywords

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