Rare Disorders and Syndromes
If you have received a prenatal test result for your child, we are here to support you. Our services are free. Talk with one of our trained consultants to determine if parent care coordination would be helpful for you.
Unborn babies can be affected by rare genetic and nongenetic syndromes. Syndromes that affect fewer than 200,000 individuals in the United States are considered “rare.” Genetic syndromes result from deletions or mutations of chromosomes, while non-genetic syndromes are caused by external factors, such as maternal use of certain medications. Some examples of rare genetic syndromes include Williams syndrome, fetal akinesia syndrome, and fragile X syndrome. Some examples of non-genetic syndromes include fetal valproate syndrome, fetal hydantoin syndrome, fetal retinoid syndrome, fetal minoxidil syndrome, and amniotic band syndrome.
Screening and Diagnosis:
The diagnostic process may look different depending on the disorder. Specialized testing may be available. We encourage you to speak with your medical team for more information.
Treatment/Prognosis:
A specialist may offer treatment options to manage symptoms.
Medical advances are continually improving treatment options and outcomes so consulting with specialists and major children’s hospitals may be beneficial to finding the best possible care.
Palliative care programs are available to support infants and their families for parents who may not be able to pursue medical interventions for their child with a life-limiting condition. They may ask their medical team for more information about perinatal palliative care programs that are available to them.
Sources:
Williams syndrome symptoms, facial features and other symptoms (fdna.health)
Diagnosing Williams Syndrome | Williams Syndrome Association (williams-syndrome.org)
FAQs About Rare Diseases | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program (nih.gov)
https://www.marchofdimes.org/baby/rare-birth-defects.aspx
https://www.cdc.gov/ncbddd/birthdefects/types.html
Fragile X Screening | Women’s Health | HCP | GenPath Diagnostics
Prenatal Diagnosis - Rett Syndrome News