Maternal, fetal and neonatal outcomes among pregnant women with arthrogryposis multiplex congenita: a scoping review
Abstract Background The rarity of pregnancies in women with arthrogryposis multiplex congenita (AMC) could lead to healthcare providers having limited exposure to these cases. Consequently, they may be less familiar with the possibilities and challenges associated with pregnancies in women affected...
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BMC
2025-03-01
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| Series: | Orphanet Journal of Rare Diseases |
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| Online Access: | https://doi.org/10.1186/s13023-025-03631-5 |
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| author | Arda Arduç Johanna I. P. De Vries Maria B. Tan-Sindhunata Femke Stoelinga Remco Jansen Ingeborg H. Linskens |
| author_facet | Arda Arduç Johanna I. P. De Vries Maria B. Tan-Sindhunata Femke Stoelinga Remco Jansen Ingeborg H. Linskens |
| author_sort | Arda Arduç |
| collection | DOAJ |
| description | Abstract Background The rarity of pregnancies in women with arthrogryposis multiplex congenita (AMC) could lead to healthcare providers having limited exposure to these cases. Consequently, they may be less familiar with the possibilities and challenges associated with pregnancies in women affected by AMC. AMC is an umbrella term for a disorder with multiple contractures at birth, having a broad spectrum of causes, onset and severity of expression. A clinical classification describing the phenotype is Group 1 with primary limb involvement, Group 2 with musculoskeletal involvement plus other system anomalies, and Group 3 with musculoskeletal involvement plus central nervous system dysfunction and/or intellectual disability. A scoping review was conducted to review available literature on documented cases of pregnancies in women with AMC, with the following aims: (1) to outline the maternal, fetal and neonatal outcomes; (2) to describe AMC stability during and after pregnancy (worsening of symptoms due to contractures, increased muscle weakness, pain or lung involvement); and (3) to summarize counselling aspects during pregnancy for expecting mothers who have AMC. Results This scoping review included 27 manuscripts reporting on 43 women with 82 pregnancies, of whom 18 in Group 1, 20 in Group 2, 2 in Group 3, and 3 with an unknown type. Details on pregnancy-related outcomes could be depicted from 26 of the 43 women concerning 31 pregnancies. Among these pregnancies, 74% (23/31) had a cesarean section delivery, of which 74% (17/23) were elective. Children were born preterm before week 37 in 7 of 31 pregnancies (22%). A birth weight below the 10th percentile was seen in 6 of the 24 (25%) with a reported birth weight. The course of the pregnancy was uneventful in 16 of the 26 women (62%). Pregnancy had a limited negative influence on AMC stability except for three cases with a transient worsening of lung function. Conclusions Gathering the information of the case histories revealed that the majority of the reported women had Distal Arthrogryposis with stable AMC during pregnancy and after delivery. The risk to have a cesarean section, preterm labour or a small for gestational age child is higher in this group than in the general population. Insights obtained by this review emphasized to offer (pre)pregnancy counselling and care by a multidisciplinary team tailored to the women’s type of AMC, to ensure optimal preparation for both obstetric, genetic, neurologic, pulmonary and anesthetic care during pregnancy, delivery and postpartum period. |
| format | Article |
| id | doaj-art-cb6b2ffd73604cef92fe7fef2bcbf4e9 |
| institution | DOAJ |
| issn | 1750-1172 |
| language | English |
| publishDate | 2025-03-01 |
| publisher | BMC |
| record_format | Article |
| series | Orphanet Journal of Rare Diseases |
| spelling | doaj-art-cb6b2ffd73604cef92fe7fef2bcbf4e92025-08-20T02:41:33ZengBMCOrphanet Journal of Rare Diseases1750-11722025-03-0120111710.1186/s13023-025-03631-5Maternal, fetal and neonatal outcomes among pregnant women with arthrogryposis multiplex congenita: a scoping reviewArda Arduç0Johanna I. P. De Vries1Maria B. Tan-Sindhunata2Femke Stoelinga3Remco Jansen4Ingeborg H. Linskens5Department of Obstetrics and Gynecology, Amsterdam UMC, University of AmsterdamDepartment of Obstetrics and Gynecology, Amsterdam UMC, University of AmsterdamDepartment of Human Genetics, Amsterdam UMC, University of AmsterdamDepartment of Rehabilitation Medicine, Amsterdam UMC, University of AmsterdamSpierziekten Nederland, Patient Support Group, Focusgroup Arthrogyposis Multiplex CongenitaDepartment of Obstetrics and Gynecology, Amsterdam UMC, University of AmsterdamAbstract Background The rarity of pregnancies in women with arthrogryposis multiplex congenita (AMC) could lead to healthcare providers having limited exposure to these cases. Consequently, they may be less familiar with the possibilities and challenges associated with pregnancies in women affected by AMC. AMC is an umbrella term for a disorder with multiple contractures at birth, having a broad spectrum of causes, onset and severity of expression. A clinical classification describing the phenotype is Group 1 with primary limb involvement, Group 2 with musculoskeletal involvement plus other system anomalies, and Group 3 with musculoskeletal involvement plus central nervous system dysfunction and/or intellectual disability. A scoping review was conducted to review available literature on documented cases of pregnancies in women with AMC, with the following aims: (1) to outline the maternal, fetal and neonatal outcomes; (2) to describe AMC stability during and after pregnancy (worsening of symptoms due to contractures, increased muscle weakness, pain or lung involvement); and (3) to summarize counselling aspects during pregnancy for expecting mothers who have AMC. Results This scoping review included 27 manuscripts reporting on 43 women with 82 pregnancies, of whom 18 in Group 1, 20 in Group 2, 2 in Group 3, and 3 with an unknown type. Details on pregnancy-related outcomes could be depicted from 26 of the 43 women concerning 31 pregnancies. Among these pregnancies, 74% (23/31) had a cesarean section delivery, of which 74% (17/23) were elective. Children were born preterm before week 37 in 7 of 31 pregnancies (22%). A birth weight below the 10th percentile was seen in 6 of the 24 (25%) with a reported birth weight. The course of the pregnancy was uneventful in 16 of the 26 women (62%). Pregnancy had a limited negative influence on AMC stability except for three cases with a transient worsening of lung function. Conclusions Gathering the information of the case histories revealed that the majority of the reported women had Distal Arthrogryposis with stable AMC during pregnancy and after delivery. The risk to have a cesarean section, preterm labour or a small for gestational age child is higher in this group than in the general population. Insights obtained by this review emphasized to offer (pre)pregnancy counselling and care by a multidisciplinary team tailored to the women’s type of AMC, to ensure optimal preparation for both obstetric, genetic, neurologic, pulmonary and anesthetic care during pregnancy, delivery and postpartum period.https://doi.org/10.1186/s13023-025-03631-5Arthrogryposis multiplex congenitaPregnancy outcomeMode of deliveryPregnancy complicationsPreterm birthSmall for gestational age |
| spellingShingle | Arda Arduç Johanna I. P. De Vries Maria B. Tan-Sindhunata Femke Stoelinga Remco Jansen Ingeborg H. Linskens Maternal, fetal and neonatal outcomes among pregnant women with arthrogryposis multiplex congenita: a scoping review Orphanet Journal of Rare Diseases Arthrogryposis multiplex congenita Pregnancy outcome Mode of delivery Pregnancy complications Preterm birth Small for gestational age |
| title | Maternal, fetal and neonatal outcomes among pregnant women with arthrogryposis multiplex congenita: a scoping review |
| title_full | Maternal, fetal and neonatal outcomes among pregnant women with arthrogryposis multiplex congenita: a scoping review |
| title_fullStr | Maternal, fetal and neonatal outcomes among pregnant women with arthrogryposis multiplex congenita: a scoping review |
| title_full_unstemmed | Maternal, fetal and neonatal outcomes among pregnant women with arthrogryposis multiplex congenita: a scoping review |
| title_short | Maternal, fetal and neonatal outcomes among pregnant women with arthrogryposis multiplex congenita: a scoping review |
| title_sort | maternal fetal and neonatal outcomes among pregnant women with arthrogryposis multiplex congenita a scoping review |
| topic | Arthrogryposis multiplex congenita Pregnancy outcome Mode of delivery Pregnancy complications Preterm birth Small for gestational age |
| url | https://doi.org/10.1186/s13023-025-03631-5 |
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