Please wait, while we are loading the content...
| Content Provider | Springer Nature : BioMed Central |
|---|---|
| Author | Arduç, Arda De Vries, Johanna I. P. Tan-Sindhunata, Maria B. Stoelinga, Femke Jansen, Remco Linskens, Ingeborg H. |
| 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. |
| Related Links | https://ojrd.biomedcentral.com/counter/pdf/10.1186/s13023-025-03631-5.pdf |
| Ending Page | 17 |
| Page Count | 17 |
| Starting Page | 1 |
| File Format | HTM / HTML |
| ISSN | 17501172 |
| DOI | 10.1186/s13023-025-03631-5 |
| Journal | Orphanet Journal of Rare Diseases |
| Issue Number | 1 |
| Volume Number | 20 |
| Language | English |
| Publisher | BioMed Central |
| Publisher Date | 2025-03-17 |
| Access Restriction | Open |
| Subject Keyword | Medicine Public Health Pharmacology Toxicology Human Genetics Arthrogryposis multiplex congenita Pregnancy outcome Mode of delivery Pregnancy complications Preterm birth Small for gestational age Medicine/Public Health Pharmacology/Toxicology |
| Content Type | Text |
| Resource Type | Review |
| Subject | Pharmacology (medical) Genetics (clinical) |
| Journal Impact Factor | 3.4/2023 |
| 5-Year Journal Impact Factor | 3.9/2023 |
National Digital Library of India (NDLI) is a virtual repository of learning resources which is not just a repository with search/browse facilities but provides a host of services for the learner community. It is sponsored and mentored by Ministry of Education, Government of India, through its National Mission on Education through Information and Communication Technology (NMEICT). Filtered and federated searching is employed to facilitate focused searching so that learners can find the right resource with least effort and in minimum time. NDLI provides user group-specific services such as Examination Preparatory for School and College students and job aspirants. Services for Researchers and general learners are also provided. NDLI is designed to hold content of any language and provides interface support for 10 most widely used Indian languages. It is built to provide support for all academic levels including researchers and life-long learners, all disciplines, all popular forms of access devices and differently-abled learners. It is designed to enable people to learn and prepare from best practices from all over the world and to facilitate researchers to perform inter-linked exploration from multiple sources. It is developed, operated and maintained from Indian Institute of Technology Kharagpur.
Learn more about this project from here.
NDLI is a conglomeration of freely available or institutionally contributed or donated or publisher managed contents. Almost all these contents are hosted and accessed from respective sources. The responsibility for authenticity, relevance, completeness, accuracy, reliability and suitability of these contents rests with the respective organization and NDLI has no responsibility or liability for these. Every effort is made to keep the NDLI portal up and running smoothly unless there are some unavoidable technical issues.
Ministry of Education, through its National Mission on Education through Information and Communication Technology (NMEICT), has sponsored and funded the National Digital Library of India (NDLI) project.
| Sl. | Authority | Responsibilities | Communication Details |
|---|---|---|---|
| 1 | Ministry of Education (GoI), Department of Higher Education |
Sanctioning Authority | https://www.education.gov.in/ict-initiatives |
| 2 | Indian Institute of Technology Kharagpur | Host Institute of the Project: The host institute of the project is responsible for providing infrastructure support and hosting the project | https://www.iitkgp.ac.in |
| 3 | National Digital Library of India Office, Indian Institute of Technology Kharagpur | The administrative and infrastructural headquarters of the project | Dr. B. Sutradhar bsutra@ndl.gov.in |
| 4 | Project PI / Joint PI | Principal Investigator and Joint Principal Investigators of the project |
Dr. B. Sutradhar bsutra@ndl.gov.in Prof. Saswat Chakrabarti will be added soon |
| 5 | Website/Portal (Helpdesk) | Queries regarding NDLI and its services | support@ndl.gov.in |
| 6 | Contents and Copyright Issues | Queries related to content curation and copyright issues | content@ndl.gov.in |
| 7 | National Digital Library of India Club (NDLI Club) | Queries related to NDLI Club formation, support, user awareness program, seminar/symposium, collaboration, social media, promotion, and outreach | clubsupport@ndl.gov.in |
| 8 | Digital Preservation Centre (DPC) | Assistance with digitizing and archiving copyright-free printed books | dpc@ndl.gov.in |
| 9 | IDR Setup or Support | Queries related to establishment and support of Institutional Digital Repository (IDR) and IDR workshops | idr@ndl.gov.in |
|
Loading...
|