Fetal development and genetics Part 2

Patterns of Inheritance

Mendelian or monogenic disorders, Multifactorial disorders, Nontraditional inheritance

Mendelian or monogenic disorders

Autosomal inheritance and X-linked inheritance 

Both can be dominant/recessive

Abnormalities of chromosome number

Monosomies; trisomies, Polyploidy

Abnormalities of chromosome structures

Deletions, Inversions, Translocations

Chromosomal Abnormalities types

number, structure, sex

Down Syndrome

trisomy 21

Edwards syndrome

trisomy 18

Patsu syndrome

trisomy 13

Turner syndrome

One X chromosome (females)

Klinefelter syndrome

One extra X chromosome (males)

Structural abnormalities

Cri du chat syndrome and Fragile x syndrome

Sex chromosome abnormalities

Turner syndrome and Klinefelter syndrom

Potential Misuse of Genetic Information

Risk Profiling, Privacy and confidentiality breaches, Workplace discrimination and access to health insurance, Loss of autonomy, Possible injustices with risk determination years before the disorder occurs

Genetic Counseling

the process in which patients or relatives who are at risk for an inherited disorders are advises on the transmission, inheritance and the family planning options that are involved

Perfect time to seek genetic counseling is

prior to conception

Nursing Roles and Responsibilites: Part 1

Take a family history, Scheduling genetic testing, Explain the purposes, is/benefits for
all screening and diagnostic tests, Answering questions and addressing concerns

Nursing Roles and Responsibilites: Part 2

Discuss costs, benefits and health insurance as a whole, Recognize ethical, legal and social issues, Protect privacy and confidentiality, Support emotional support, Refer to support groups