just wanna share what Trisomy 18...since myself went through it (told that my son Tanner had it, but found out at the end when he was born that he was a perfect lil baby)

Trisomy 18 syndrome is a disorder of human chromosomes which occurs in approximately 1 in 6,000 live born infants. Trisomy 18 is due to the presence of an extra #18 chromosome. Over 90% of infants with Trisomy 18 syndrome will have a full trisomy while the remainder will have a trisomy due to a rearrangement called a translocation or have mosaicism (two different cell lines).

Infants born with Trisomy 18 usually have small size at birth. There is a recognizable pattern of physical features that often allow the health professional to make the diagnosis of the syndrome. These physical findings are not medically significant but provide clues. They include: prominence to the back part of the head, short eyelid fissures, small mouth and jaw, external ear variations, clenched fist with index finger overlapping the third and 5th finger overlapping the 4th, small fingernails, underdeveloped or altered thumbs, short sternum (breastbone), club feet and redundant skin at the back of the neck.

Major impact of Trisomy 18 is a predisposition to congenital malformations (birth defects), increased infant mortality, and a developmental disability in older infants and children.

Birth Defects

The congenital malformations involve the medically and significant findings mentioned above as well as the presence of some internal or external birth defects. The most common and important is a defect of the heart. Over 90% of children with Trisomy 18 will have a congenital heart malformation; these include: ventricular septal defect ? an opening between the lower chambers of the heart which prevents the heart from pumping blood correctly (a heart murmur is generally heard from this finding); atrial septal defect ? an opening between the two upper chambers of the heart making it difficult for the heart to pump sufficient oxygen rich blood to body tissues (a heart murmur is often heard); patent ductus arteriosis ? a heart defect involving the lack of closure of the channel that usually closes near the time of birth. This then is a persistence of the opening of this channel. In addition, children with Trisomy 18 usually have an alteration of one of the four heart valves. This combination is referred to as a ventricular septal defect with polyvalvular dysplasia. About 10% of children with Trisomy 18 will have a life threatening heart defect noted before or soon after birth. These include a double outlet right ventricle and hypoplastic left heart

Medical Problems

The increased occurrence of infant mortality is related to a combination of factors but most importantly central apnea, where the brain does not give the message to breathe. Other complicating factors include difficulty feeding with aspiration with a predisposition to aspiration pneumonia, and under development of the lungs. The heart defects can play some role in this but are usually not the only cause of this increased mortality. Important and common birth defects seen in Trisomy 18:

Congenital heart defects 90%
Multiple joint contractures 10%
spina bifida
hearing loss >50%
radial aplasia (underdevelopment or missing radial bone of forearm) 5-10%
cleft lip 5-10%
birth defects of the eye 10%

Common Disorders in
Trisomy 18

feeding difficulties
gastroesophageal reflux
slow post natal growth
apnea
seizures
kidney defects
urinary tract infections
developmental disability
scoliosis

Routine follow-up of infants with Trisomy 18

Routine child care/anticipatory guidance
Cardiac evaluation
Eye evaluation
Hearing test
Infant/pre-school program early intervention
Ongoing Support
Routine ultrasound for Wilms tumor
Routine immunization
Referral for feeding clinic if appropriate
Scoliosis check