Fetal akinesia deformation sequence
- Fetal akinesia sequence
- Pena-Shokeir syndrome, type 1
- Arthrogryposis multiplex congenita with pulmonary hypoplasia
Your QuestionI've had three consecutive cases of Pena-Shokeir. Is there any kind of test available that can assure me an unaffected pregnancy? Are the genes detectable? What are the genes involved and how can I get them tested?
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Possible causes for decreased fetal movement which may contribute to the features of FADS may include:
- Neurologic abnormalities such as cerebral and cerebellar dysgenesis (abnormal development); spinal tract, myelin, and end plate disturbances; and ischemia (deficient blood supply) with secondary loss of neuron function
- Myopathic (muscle-related) abnormalities such as dystrophies and dyplasias
- Connective tissue abnormalities including chondrodysplasias, restrictive skin, and joint limitation or laxity
- Fetal edema for a variety of reasons (storage, metabolic, heart failure, lymphatic dysplasia, etc.)
- Maternal illness, drugs, and antibodies (including maternal myasthenia gravis)
- Ischemic changes during embryonic/fetal development, which may be due to developmental vascular abnormalities, trauma, hypotension, drugs, infections, and maternal illness or thrombophilia
Autosomal recessive inheritance of FADS has been implied in several published cases. Genes in which mutations have been detected in affected individuals include the RAPSN and DOK7 genes. According to current literature, the recurrence risk is estimated to be 10–25%.
GeneTests lists the names of the laboratories that are performing genetic testing for FADS. To view the contact information for these laboratories, click on the following links:
DOK7-Related Fetal Akinesia Deformation Sequence
RAPSN-Related Fetal Akinesia Deformation Sequence
Please note that most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional.
In most cases, prenatal diagnosis for FADS relies on ultrasound during the pregnancy, which may reveal some of the characteristic features of the condition. It has been reported that ultrasound diagnosis of FADS is feasible from 14 weeks of gestation onwards, although it has been reported as early as 12 weeks. In some cases, specific features might only become evident in later ultrasounds.
Because the underlying cause of FADS in many cases is unknown, and/or genetic testing is not always available or informative, ensuring an unaffected pregnancy is often not possible. Preimplantation genetic diagnosis (PGD) for a genetic condition is an option when a specific genetic cause for the condition has been identified and genetic testing is available. If a particular case of FADS is known to be due to a specific genetic abnormality (FADS may be associated with a variety of conditions) and the above conditions are met, PGD for the condition associated with FADS may be possible. A genetics professional can help determine if this is an option on a case-by-case basis.
Likewise, if a genetic cause for FADS has been identified and the causative mutations in a family are known, prenatal diagnosis during the pregnancy via chorionic villus sampling (CVS) or amniocentesis may also be possible.
Individuals seeking information about their specific preconception and prenatal options should speak with a genetics professional.
The following online resources can help you find a genetics professional in your community:
- The National Society of Genetic Counselors provides a searchable directory of US and international genetic counseling services.
- The American College of Medical Genetics has a searchable database of US genetics clinics.
- The University of Kansas Medical Center provides a list of US and international genetic centers, clinics, and departments.
- The American Society of Human Genetics maintains a database of its members, which includes individuals who live outside of the United States. Visit the link to obtain a list of the geneticists in your country, some of whom may be researchers that do not provide medical care.
- JG Hall. Pena-Shokeir phenotype (fetal akinesia deformation sequence) revisited. Birth Defects Res A Clin Mol Teratol. August 2009; 85(8):677-694.
- Fetal akinesia deformation sequence. Orphanet. July 2005; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=994. Accessed 10/2/2012.
- F Hoellen et al. Arthrogryposis multiplex congenita and Pena-Shokeir phenotype: challenge of prenatal diagnosis--report of 21 cases, antenatal findings and review. Fetal Diagn Ther. 2011; 30(4):289-298.
- Fetal Akinesia Deformation Sequence; FADS. Online Mendelian Inheritance in Man (OMIM). April 2010; http://www.ncbi.nlm.nih.gov/omim/208150. Accessed 6/29/2011.