Amniocentesis provides a sample of amniotic fluid that can be used to screen for sequence variants or chromosomal variants, whereas samples obtained through chorionic villus sampling can only be used to detect major chromosomal abnormalities (such as trisomy 21), making chorionic villous sampling less relevant in the context of diagnosing L1 syndrome (which is often caused by sequence variants). Amniocentesis (typically performed between 15 and 18 weeks of pregnancy) has a 1% risk of complications for mother and fetus, including miscarriage, while chorionic villus sampling (typically performed between 10 and 12 weeks of pregnancy) has a 2% risk of complications including miscarriage. Mothers carrying a fetus with suspected L1 syndrome will often elect to undergo amniocentesis despite its risk, rather than waiting to pursue lower-risk genetic testing after their child is born, because prenatal diagnostic results can inform considerations to terminate the pregnancy.For any child born with multiple physical abnormalities, the first-line diagnostic test is chromosomal microarray. Management
To know the extent of the disease and the required needs of an individual diagnosed with L1 syndrome, some tests are recommended, including: Head imaging study, Complete neurologic evaluation, Developmental evaluation, Evaluation for Hirschsprung disease if there is a history of constipation, Consultation with a clinical geneticist and/or genetic counselor. A proper management of the manifestations of the L1 syndrome involves a multidisciplinary(involving a team specialized in more than one medical fields) approach involving a team that works within these fields: pediatrics, child neurology, neurosurgery, rehabilitation, and clinical genetics.
In 2008, Russian lawyer Karinna Moskalenko claimed to have been poisoned by mercury left in her car, while in 2010 journalists Viktor Kalashnikov and Marina Kalashnikova accused Russias FSB of trying to poison them. See also
References
External links
Hazardous Substances: Mercury at Curlie
Toxic Substances: Mercury at Curlie