Clinical Genetics
 Patau Syndrome  
National Electronic Library for Health
 

Pitfalls to Avoid

*    Confirm diagnosis cytogenetically, do not rely on clinical diagnosis
*    Recurrence risk is significantly increased if there is a translocation which exists in one of the parent, therefore always check the parents chromosomes if the child has a translocation form of trisomy 13
*    Do not rely on rapid FISH results to exclude the diagnosis, always wait for the full culture
*    Never tell parents the child will not survive, 3% of children will survive to six months and a small number are still alive at one year, this may have a significant impact on their decisions about the pregnancy
*    The absence of congenital heart disease does not necessarily improve the prognosis, it is thought that many die due to central apnoea
*    If possible surgery should be avoided until the karyotype is known as this may influence decisions about management.

The Haberman Feeding System  - Specialty Feeding Products for Cleft lip/Cleft Palate Although most mothers and babies can breastfeed without special assistance, sometimes occasional help is needed. Premature babies, failure-to-thrive babies, and babies with specific impairments, such as neurological challenges, may require extra attention. Infants with severe feeding problems can also benefit from specialized feeding products.

Clinical Genetic  article ( Full text -click here)


The parents' journey: continuing a pregnancy after a diagnosis of Patau's syndrome

Keeping the baby; Parents need good support and understanding clinicians in Trisomy 13 and other severe disabilities.

I really like the way this site offers information on Genetics
http://rms.nelh.nhs.uk/genepool/  

Rare / Orphan Diseases
Patau Syndrome  (Trisomy 13)
Extra copy of Chromosome 13

If you have a Genetic Doctor or Physician who does not help you with these kids, please have him read this page from
SOFT (Support Organization for Trisomy)

COMMON PROBLEMS OF BABIES
WITH TRISOMY 18 OR 13
Feeding Difficulties
Slow Post Natal Growth
Irritability and Constipation
Low Muscle Tone & Neurological Problems
Common Chronic Illnesses and Problems
Congenital Anomalies
Usual Reported Causes of Death
Long Term Survivor
For the Professional
Recommended Medical Care

Looking for Trisomy Support? All variations for Trisomy 1, Trisomy 2, Trisomy 3, Trisomy 4, Trisomy 5, Trisomy 6, Trisomy 7, Trisomy 8, Trisomy 9, Trisomy 10, Trisomy 11, Trisomy 12, Trisomy 13, Trisomy 14, Trisomy 15, Trisomy 16, Trisomy 17, Trisomy 18, Trisomy 19 (still looking for a contact link), Trisomy 20, Trisomy 21, Trisomy 22
SOFT Support Organization for Trisomy Universal Contact Information for Local Trisomy Support

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