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
• NATURE OF INHERITANCE
• MENDELIAN INHERITANCE
• DOMINANT PATTERN
• RECESSIVE PATTERNS
• INHERITANCE OF DISEASE
AUTOSOMAL
DOMINANT
DISORDERS
One One of the parents of a child with the
Parent disorder also will have the disorder
The sex of the affected individual is
Sex 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)
IMPRINTING
INHERITANCE
• MANY CHILDHOOD DISORDERS TEND TO HAVE • REFERS TO THE DIFFERENTIAL EXPRESSION
HIGHER-THAN USUAL INCIDENCE OF GENETIC MATERIAL
• OCCUR FROM MULTIPLE GENE COMBINATIONS
• ALLOWS RESEARCHERS TO IDENTIFY
POSSIBLY COMBINED WITH ENVIRONMENTAL
WHETHER CHROMOSOMAL MATERIAL
FACTORS
COMES FROM THE MALE OR FEMALE PARENT
• DO NOT FOLLOW THE MENDELIAN LAWS
• NO SET PATTERNS IN FAMILY HISTORY
CHROMOSOMAL ABNORMALITIES
(CYTOGENIC DISORDERS)
NONDISJUNCTION
DELETION ABNORMALITIES
ABNORMALITIES
• ABNORMALITIES OCCUR IF THE DIVISION IS UNEVEN • PART OF THE CHROMOSOMES BREAKS
• IF SPERMATOZOON OR OVUM WITH 24 OR 22 DURING CELL DIVISION CAUSING THE
CHROMOSOMES FUSES WITH A NORMAL AFFECTED PERSON TO HAVE AN EXTRA
SPERMATOZOON OR OVUM. THE ZYGOTE WILL
HAVE EITHER 47 OR 45 CHROMOSOMES, NOT THE
PORTION OF A CHROMOSOME.
NORMAL 46
• 45 CHROMOSOMES IS NOT COMPATIBLE WITH LIFE
AND COULD LEAD TO ABORTION.
CHROMOSOMAL ABNORMALITIES
(CYTOGENIC DISORDERS)
TRANSLOCATION
ABNORMALITIES MOSAICISM
• A CHILD GAINS ADDITIONAL • ABNORMAL CONDITION THAT IS PRESENT
CHROMOSOME THROUGH ANOTHER WHEN THE NONDISJUNCTION DISORDER
ROUTE. OCCURS AFTER FERTILIZATION OF THE
OVUM AS THE STRUCTURE BEGINS
ISOCHROMOSOMES MITOTIC DIVISION.
• RESULTS FROM CHROMOSOME • DIFFERENT CELLS IN THE BODY WILL HAVE
ACCIDENTALLY DIVIDING NOT BY VERTICAL DIFFERENT CHROMOSOME COUNTS
SEPARATION BUT BY HORIZONTAL ONE SO
A NEW CHROMOSOME WITH
MISMATCHED LONG AND SHORT ARMS
GENETIC COUNSELLING
• PROVIDE CONCRETE, ACCURATE INFORMATION ABOUT
THE PROCESS OF INHERITANCE AND INHERITED
DISORDERS
• REASSURE PEOPLE WHO ARE CONCERNED THAT THEIR
CHILD MAY INHERIT A PARTICULAR DISORDER OR THAT
THE DISORDER WILL NOT OCCUR
• ALLOW PEOPLE WHO ARE AFFECTED 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 CLOSE RELATIVES 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 YEARS AND ANY MAN
OLDER THAN 55 YEARS
• COUPLES OF ETHNIC BACKGROUNDS IN WHICH SPECIFIC
ILLNESSES ARE KNOWN TO OCCUR.
NURSING RESPONSIBILITIES
• EXPLAIN WHAT PROCEDURES TO UNDERGO
• EXPLAIN HOW DIFFERENT GENETIC SCREENING
TESTS ARE DONE AND WHEN OFFERED
• SUPPORT THE COUPLE DURING THE WAIT FOR
TEST RESULTS
• ASSIST COUPLES IN VALUES CLARIFICATION,
PLANNING, AND DECISION MAKING BASED ON
TEST RESULTS
GENETIC DISORDERS
ASSESSMENT
History
Physical 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?
