GENETIC COUNSELLING Pdf1

CHAPTER 1:
GENETIC DISORDERS,
COUNSELING,
AND COUPLES WITH
SUBFERTILITY
RODEL ROVEN C. DACANAY , RN

Chapter 1
01 02 03
Genetic Genetic Couple with
Disorders. Counseling, Subfertility
1. GENETIC
DISORDERS.
WHAT IS GENETICS?
◦Genetics is the study of how genes
and how traits are passed down from
one generation to the next. Our
genes carry information that affects
our health, our appearance, and even
our personality!
TERMINOLOGIES:
❖Genetic: Branch of science which studies genes and the pattern of inheritance
of particular diseases
❖Inheritance: The passing of familial elements from one generation to the next.
❖Gene – Basic unit of genetic information. Genes determine the inherited

characters. It is the functional subunit of DNA and contain instruction for making
protein.
❖Chromosomes – storage units of genes. A structure within the cell that deliver
the genetic material as DNA.
TERMINOLOGIES:
❖DNA - is a nucleic acid that contains the genetic instructions
specifying the biological development of all cellular forms of life
Molecule encodes the genetic information.
❖Genome – the collection of genetic information.
❖Carrier individual- individual who appear normal but has one copy of
mutant gene.
TERMINOLOGIES:
❖ Phenotype: an appearance or characteristic of an individual, which results from the interaction of the
person’s genetic makeup and his/her environment.
❖ Genotype: the genetic constitution (genome) of a cell, an individual or an organism.
❖ Autosomal Dominant: it is one of several ways that a trait or disorder can be passed down through
families.
◦ (Or) A gene on one of the non-sex chromosomes that is always expressed, even if
only one copy is present.
❖ Autosomal recessive: A pattern of inheritance in which both copies of an autosomal gene must be
abnormal for a genetic condition or disease to occur
CHROMOSOMAL
ABNORMALITIES
What are chromosomal abnormalities?
◦ A chromosomal disorder occurs when there is a change in the
number or structure of the chromosomes.
◦ This change in the amount, or arrangement of, the genetic

information in the cells may result in problems in growth,
development and/or functioning of the body systems
◦ These alterations can be detected by studying the affected person´s

karyotype
◦ A karyotype is an individual's complete set of chromosomes.

Normal karyotype
◦ There are 46 chromosomes (23

homologous ones)
◦ Homologous chromosomes are
evenly banded)
COMMON CHROMOSOMAL DISORDERS
RESULTING TO
PHYSICAL OR COGNITIVE
DEVELOPMENT DISORDERS
A.DOWN
SYNDROME
A. TRISOMY 21(DOWN SYNDROME)
◦ Down syndrome is the most common of the autosomal chromosomal disorders and is a major cause
of intellectual disability.
◦ INCIDENCE,
◦ 1 in 750 of live birth,
◦ It is due to the presence of inheritance of extra number of chromosome number 21.
◦ Therefore also known as ‘trisomy 21’. So their chromosome count is 47
◦ The parents of such children have a normal karyotype and are normal in all respects.
◦ Most common cause of Down syndrome is meiotic nondisjunction.

TRISOMY 21(DOWN SYNDROME)RISK
FACTORS
◦ 1.Advancing maternal age – usually
women of age 35 and above.
◦ 2.Mothers who already have one child

with Down syndrome.
◦ 3.Parents who are carriers of the genetic

translocation for Down syndrome.
Clinical features- Down’s Syndrome:
Physical appearances
flat facial profile and an
upward slant to the eye
short neck
abnormally shaped ears
white spots on the iris of
the eye (called Brushfield
spots)
single, deep transverse
crease on the palm of the
hand.
DOWN SYNDROME
◦ Cognitive disabilities are characteristic of Down syndrome,
with typical intelligence quotients (IQs) between 20 and 80
(mostly between 45 and 55).
◦ Generalized hypotonia is common.
◦ Sexual development is delayed, especially in males, who are
usually sterile. The affected newborn may have prolonged
physiologic jaundice, polycythemia, and a transient leukemoid
reaction.
B. TURNER´S
SYNDROME (XO):
Turner´s syndrome (XO):
◦ Turner syndrome results from a deletion or the non-functioning of

one X chromosome in females. About half of the population with
Turner syndrome have monosomy X (45,XO). The other 50% of the
population has a mosaic chromosomal component (45,X with
mosaicism).
◦ Disorder affecting women
Clinical
symptoms:
◦ Sterility and
underdevelope
d genitals
◦ Short height
C. KLINEFELTER
SYNDROME
Klinefelter syndrome
◦ It is best defined as male hypogonadism that occurs when there are
two or more X chromosomes and one or more Y chromosomes.
◦ The incidence of this condition is reported to be approximately 1

in 660 live male births.
◦ Risk factor:
Advanced maternal age (>40 years) is a risk factor.
Clinical features:
◦ Increase in length between the
soles and the pubic bone.
◦ Abnormally long legs; small

atrophic testes often associated
with a small penis.
◦ Lack of secondary male

characteristics as deep voice,
beard, and male distribution of
pubic hair.
◦ Gynecomastia may be present

Clinical features:
◦ The cognitive abilities range from average to below average with modest
deficit in verbal skills particularly those that are used in reading and
language comprehension.
◦ Patients are at a higher risk for congenital heart disease.
◦ There is also an increased incidence of osteoporosis and fractures.
◦ Klinefelter syndrome is an important genetic cause of reduced

spermatogenesis and male infertility.
2.GENETIC
COUNSELING
INTRODUCTION:
Genetic counseling process follows
these basic characteristic of a
counseling process. It is undertaken
with families confronted with genetic
and inherited disorders.
INTRODUCTION:
Genetic Counseling enables couples / affected individual to make decision about a
future pregnancy. It helps the affected individual to educate and cope with the
disorders with minimal clinical problem. Therefore Genetic Counseling is done in
an objective manner, so that any treatment selected remains the personal choice
of the individual involved.
Hence thorough knowledge of the disease for giving information regarding the
cause and risk factors of the disease is necessary before counseling.
PURPOSE:
➢Provide concrete, accurate information about inherited
disorders.
➢Reassure people who are concerned that their child may
inherit a particular disorder that the disorder will not occur.
➢Allow people who are affected by inherited disease to
make informed choice about future reproduction.
➢Educate people about inherited disorder and the process of
inheritance.
➢Offer support by skilled health care professionals to
people who are affected by genetic disorders.
ROLE OF A NURSE IN
GENETIC COUNSELING
◦ Guiding a women or couple through prenatal
diagnosis.
◦ Helping parents make decision in regard to
abnormal prenatal diagnostic results.
◦ Assisting parents who have had a child with
a birth defect to locate needed service and
support.
◦ Providing support to help the family deal
with the emotional impact of a birth defect.
◦ Coordinative services of other professionals,
such as social workers, physical and
occupational therapist, psychologist &
dietician.
3. COUPLES WITH
SUBFERTILITY
What is subfertility
◦ Subfertility is a delay in conceiving. Infertility is the inability to conceive
naturally after one year of trying. In subfertility, the possibility of
conceiving naturally exists, but takes longer than average.
PHYSIOLOGIC AND
PSYCHOLOGICAL
ASSOCIATED WITH
SUBFERTILITY
SEX CHROMOSOMES
◦ The sex chromosomes determine whether a fetus

becomes male or female. A pair of X and Y chromosomes
(XY) results in a male, and a pair of X and X chromosomes
(XX) results in a female.
SEX CHROMOSOMES
◦ Sex chromosome abnormalities occur when a person is missing a whole sex
chromosome (called monosomy) or has an extra sex chromosome (called a
duplication). Abnormalities can also occur when a person is missing part of a sex
chromosome (called a deletion).
◦ Sex chromosome abnormalities are common and cause syndromes that are
associated with a range of physical and developmental problems. Many of these
syndromes are not noticed while the mother is pregnant but may be discovered
if prenatal testing is done for other reasons, such as older age in the mother. The
abnormalities are often hard to recognize at birth and may not be diagnosed until
puberty.
ROLE OF NURSES
IN SUBFERTILITY
• Educating patients about their fertility options
• Working with physicians to perform physical
examinations, embryo transfers, ultrasounds, and
scans
• Collecting and sending blood samples for testing
• Communicating with patients, conducting
interviews, and gathering medical histories
◦ Additionally, fertility nurses provide emotional
support, giving patients the encouragement they
need to successfully grow their families.
THANK YOU

GENETIC COUNSELLING Pdf1

Uploaded by

Copyright:

Available Formats

GENETIC COUNSELLING Pdf1

Uploaded by

Document Information

Original Title

Copyright

Available Formats

Share this document

Share or Embed Document

Sharing Options

Did you find this document useful?

Is this content inappropriate?

Copyright:

Available Formats

GENETIC COUNSELLING Pdf1

Uploaded by

Copyright:

Available Formats

CHAPTER 1:

RODEL ROVEN C. DACANAY , RN

❖Gene – Basic unit of genetic information. Genes determine the inherited

❖Genome – the collection of genetic information.

❖ Genotype: the genetic constitution (genome) of a cell, an individual or an organism.

◦ This change in the amount, or arrangement of, the genetic

◦ These alterations can be detected by studying the affected person´s

◦ A karyotype is an individual's complete set of chromosomes.

◦ There are 46 chromosomes (23

◦ 1 in 750 of live birth,

◦ It is due to the presence of inheritance of extra number of chromosome number 21.

◦ Therefore also known as ‘trisomy 21’. So their chromosome count is 47

◦ Most common cause of Down syndrome is meiotic nondisjunction.

◦ 2.Mothers who already have one child

◦ 3.Parents who are carriers of the genetic

◦ Turner syndrome results from a deletion or the non-functioning of

◦ The incidence of this condition is reported to be approximately 1

◦ Abnormally long legs; small

◦ Lack of secondary male

◦ Gynecomastia may be present

◦ Patients are at a higher risk for congenital heart disease.

◦ There is also an increased incidence of osteoporosis and fractures.

◦ Klinefelter syndrome is an important genetic cause of reduced

◦ The sex chromosomes determine whether a fetus

You might also like