Question

Design nursing care strategies which incorporate genetic and genomic risk factors.

Background information:

You are feeling passionate about developing information to share with your clients and families that have positive genetic testing results. A young couple approaches you concerned that they may have a child with Down syndrome as both the male and female in the relationship have siblings with Down syndrome. You decide to create an educational document that supports the family in their search for more information.

Points to Mention:

· Describe educational information that a couple may need to know before the birth of their baby. What testing can be recommended? How is this testing done and when in the gestation?

· After birth, what resources can be offered to this couple to care for their newborn with Down syndrome?

· List and describe resources this family may access now and into the future to support care for their child with Down Syndrome into adulthood.

Answer 1

The educational information that a couple need while they are planning for pregnancy with the family history of Down syndrome are as follows :

While the Down syndrome cannot be prevented, the parents can take few steps to reduce the chance of having baby with Down syndrome. Studies say that women who give birth before the age of 35 years are at reduced risk of Down syndrome .

Supplementation of folic acid while planning for pregnancy and during early phases of pregnancy reduce the risk of neural tube defects as well as Down's syndrome.

Antenatal screening is done using various biochemical and ultrasound markers which usually detects 90% of affected pregnancies.

Tests to detect Down's syndrome antenatally :

Universal screening along with serum concentrations of alpha fetoprotein which shows lower levels in case of Down's syndrome.

Screening of nuchal translucency , a fluid filled space behind the fetal neck which is more prominent in fetus affected with Down's syndrome. This test is done between 10 and 13 weeks of pregnancy.

Ultrasound scans of fetal nuchal translucency in first trimester along with other biochemical markers in initial pregnancy phase and in second trimester can detect about 90% of the cases.

Resources that can be offered to couple to care for their newborn with Down's syndrome :

Breast feeding issues :

Baby with Down's syndrome may have problems latching and feeding. As a nurse, we need to be supportive and assist in feeding and positioning of the mother and baby.

Heart defects :

Some babies with Down's syndrome may have heart defects which have to be corrected in initial period of life. As a nurse teach the parents to check the heart rate and identify any abnormalities in rhythm and sound of the heart beat.

Vision related issues :

Cataract and other eye related issues may be present. As a nurse , educate the couple regarding this so that they are aware of this.

Resources that family may access to support care for their child with Down's syndrome :

• Contact with other parents who are raising child with Down's syndrome :
• Certain organisations according to the place you live provide support to parents through education and information. As a nurse, we can provide assistance in providing information regarding these organisations.
• Few local communities too have support system for easy access for the parents which deals with speech therapy, feeding therapy in early stages of life and funding education and skill developments in later stages of the life. The parents need to be informed regarding this.
• In infancy and toddler phase, baby sign language books comes into resuce while can be changed into pictures as they grow which helps in communication.