GENETIC ASSESSMENT AND COUNSELLING

LEARNING OBJECTIVES

✓ Describe the nature of inheritance, patterns of recessive and

dominant mendelian inheritance, and common chromosomal
aberrations that cause physical or cognitive disorders.

✓ Use critical thinking to analyze ways that can make genetic

assessment or education more family centered.

✓ Integrate knowledge of genetic inheritance with nursing process

to achieve quality maternal and child health nursing care.

GENETIC
DISORDERS

• NATUREOF INHERITANCE

• MENDELIAN INHERITANCE

• DOMINANT PATTERN

• RECESSIVE PATTERNS

• INHERITANCEOF DISEASE

AUTOSOMAL
DOMINANT
DISORDERS

One

Parent

One of the parents of a child with the

disorder also will have the disorder

Sex

The sex of the affected individual is

unimportant in terms of inheritance.

History

There is usually a history of the

disorder in other family members

AUTOSOMAL RECESSIVE
INHERITANCE

Both Parent

• Both parents of a child with the disorder are clinically free of

the disorder

Sex

• The sex of the affected individual is unimportant in terms of

inheritance.

History

• The family history for the disorder is negative—that is, no one

can identify anyone else who had it (a horizontal
transmission pattern).

Ancestor

• A known common ancestor between the parents sometimes

exists. This explains how both male and came to possess a
like gene for the disorder

X-LINKED DOMINANT
INHERITANCE

Dominant gene

• All individuals with the gene are affected

Affected

• All female children of affected men are

affected; all male children of affected men
are unaffected

Generation

• It appears in every generation

Homozygous/ Heterozygous

• All children of homozygous affected

women are affected. Fifty percent of the
children of heterozygous affected women
are affected

X-LINKED RECESSIVE
INHERITANCE

Males

• Only males in the family will have the disorder

History of death
• A history of girls dying at birth for unknown
reasons often exists (females who had the
affected gene on both X chromosomes).

Unaffected

• Sons of an affected man are unaffected

Parents

• The parents of affected children do not have the

disorder

MULTIFACTORIAL (POLYGENIC)
INHERITANCE

• MANY CHILDHOOD DISORDERSTEND TO HAVE

HIGHER-THAN USUAL INCIDENCE

• OCCUR FROM MULTIPLEGENE COMBINATIONS

POSSIBLYCOMBINEDWITH ENVIRONMENTAL
FACTORS

• DO NOT FOLLOW THEMENDELIAN LAWS

• NO SETPATTERNS IN FAMILY HISTORY

IMPRINTING

• REFERSTO THEDIFFERENTIAL EXPRESSION

OF GENETIC MATERIAL

• ALLOWS RESEARCHERS TO IDENTIFY

WHETHER CHROMOSOMAL MATERIAL
COMES FROM THE MALE OR FEMALEPARENT

CHROMOSOMAL
ABNORMALITIES
(CYTOGENIC DISORDERS)

NONDISJUNCTION
ABNORMALITIES

• ABNORMALITIES OCCURIF THEDIVISION IS UNEVEN

• IF SPERMATOZOON OR OVUM WITH 24 OR 22

CHROMOSOMES FUSES WITH A NORMAL
SPERMATOZOON OR OVUM. THE ZYGOTE WILL
HAVEEITHER 47 OR 45 CHROMOSOMES, NOT
THE NORMAL 46
• 45 CHROMOSOMES IS NOT COMPATIBLEWITH LIFE

AND COULD LEAD TO ABORTION.

DELETION ABNORMALITIES

• PART OF THE CHROMOSOMES BREAKS

DURING CELL DIVISION CAUSING THE
AFFECTED PERSON TO HAVE AN
EXTRA PORTION OF A
CHROMOSOME.

CHROMOSOMAL
ABNORMALITIES
(CYTOGENIC DISORDERS)

TRANSLOCATION
ABNORMALITIES

• A CHILD GAINS ADDITIONAL

CHROMOSOMETHROUGH
ANOTHER ROUTE.

ISOCHROMOSOMES

• RESULTS FROM CHROMOSOME

ACCIDENTALLY DIVIDING NOT BY VERTICAL
SEPARATION BUT BY HORIZONTAL ONE SO
A NEW CHROMOSOME WITH
MISMATCHED LONG AND SHORT ARMS

MOSAICISM

• ABNORMAL CONDITION THAT IS

PRESENT WHEN THE NONDISJUNCTION
DISORDER OCCURS AFTER FERTILIZATION
OF THE OVUM AS THE STRUCTURE
BEGINS MITOTIC DIVISION.

• DIFFERENT CELLS IN THE BODY WILL

HAVE DIFFERENT CHROMOSOME
COUNTS

GENETIC COUNSELLING

• PROVIDECONCRETE, ACCURATE INFORMATION ABOUT

THE PROCESSOF INHERITANCE AND INHERITED
DISORDERS

• REASSUREPEOPLEWHOARECONCERNEDTHATTHEIR
CHILD MAY INHERIT A PARTICULAR DISORDER OR THAT
THE DISORDER WILLNOT OCCUR

• ALLOW PEOPLEWHO AREAFFECTED BY INHERITED

DISORDERS TO MAKE INFORMED CHOICE ABOUT FUTURE
REPRODUCTION
• OFFER SUPPORT TO PEOPLE WHO ARE AFFECTED BY

GENETIC DISORDERS

WHO SHOULD GO FOR

GENETIC
COUNSELLING?

• COUPLE WHO HAS A CHILD WITH CONGENITAL DISORDER

OR AN INBORN ERROR OF METABOLISM

• COUPLE WHOSE CLOSERELATIVES HAVE A CHILD WITH A

GENETIC DISORDER

• ANY INDIVIDUAL WHO IS KNOWN BALANCED

TRANSLOCATION CARRIER

• ANY INDIVIDUAL WHO HAS AN INBORN ERROR OF

METABOLISM OR CHROMOSOMAL DISORDER

• A CONSANGUINEOUS (CLOSELY RELATED) COUPLE

• ANY WOMAN OLDER THAN 35 YEARSAND ANY MAN

OLDER THAN 55 YEARS

• COUPLESOF ETHNIC BACKGROUNDS IN WHICH SPECIFIC

ILLNESSESARE KNOWN TO OCCUR.

NURSING RESPONSIBILITIES

• EXPLAIN WHAT PROCEDURESTO UNDERGO

• EXPLAIN HOW DIFFERENT GENETIC SCREENING

TESTS ARE DONE AND WHEN OFFERED

• SUPPORT THE COUPLE DURING THE WAIT FOR

TESTRESULTS

• ASSIST COUPLES IN VALUES CLARIFICATION,

PLANNING, AND DECISION MAKING BASED ON
TESTRESULTS

History
Physical

GENETIC
DISORDERS
ASSESSMENT

assessment

Diagnostic testing

• Karyotyping

• Maternal serum screening

• Chorionic villi sampling

• Amniocentesis

• Percutaneous umbilical blood sampling

• Fetal imaging

• Fetoscopy

• Preimplantation diagnosis

THANK YOU!

ANY QUESTIONS
OR
CLARIFICATIONS?