All newborns be screened shortly after birth for conditions mandated by law
Reduce the proportion of children diagnosed with a disorder through newborn blood spot screening who experienced developmental delay requiring special education services
Increase the proportion of screen-positive children who receive follow-up testing within the recommended time
Increase the proportion of youth with special health care needs whose health care provider has discussed transition planning from pediatric to adult health care
Reduce the number of children and youth with disabilities (aged 21 years and younger) living in congregate care residences
Genetics is a constantly changing field of study that is why it is important for nurses and other health workers to be updated with the current developments so as to appreciate how these developments affects the family and the patient
Routine sonogram screening (a nuchal translucency scan)
1. Nuchal translucency- is the normal fluid-filled subcutaneous space identified at the back of the fetal neck during the late first trimester and early second trimester (11 -13 weeks)
2. Normal nuchal measurement is under 3mm
3. An increased nuchal translucency increases the probability that the fetus will be affected by a chromosomal abnormality, congenital cardiac defects or intrauterine fetus demise
4. A low nuchal measurement less than 2.5mm places the pregnancy in a low risk for problems such as fetal heart abnormalities
The CVS and amniocentesis are diagnostic test for karyotype – a graphic representation of chromosomes present when fetal chromosomes are photograph and displayed which can provide a definite answer about the presence or absence of disorder