NCM 109

CARE OF MOTHER AND CHILD

AT RISK OR WITH PROBLEMS
(ACUTE AND CHRONIC)
2nd Semester
AY 2020 - 2021
GENETICS AND GENETIC
COUNSELING
 Nature of inheritance
• Genes – are the basic unit of heredity that
determine both the physical and cognitive
characteristics of people.
• Composed of segments of DNA
(deoxyribonucleic acid); they are woven into
strands in the nucleus of all body cells to form
chromosomes.
• In humans, each cell, with the excemption of
the sperm and ovum, contains 46
chromosomes (44 autosomes and 2 sex
chromosomes)
• Spermatozoa and ova each carry 23
chromosomes (1/2)
• For each chromosome in the sperm cell, there
is a like chromosome of similar shape and size
and function in the egg cell (AUTOSOME)
• Alelles – 2 like genes
• Phenotype – refers to his or her outward
appearance or the expression of the genes
• Genome –complete set of genes present.
(46 XX or 46 XY)
• Genotype – refers to his or her actual gene
composition.
 Nature of Inheritance : Dominant and
Recessive Pattern
• The principle of inheritance of disease are the
same as those that govern genetic inheritance
of other physical characteristics, such as eye
or hair color.
• These principles are discovered and described
by Gregor Mendel, an Austrian naturalist.
• Mendelian Laws
• A person who has two like genes for a trait on
two like chromosomes (homozygous)
• If gene differs (heterozygous)
• Dominant – dominant in their action over
others; if paired with other genes
• Recessive – not dominant gene
• Mendelian laws permits the prediction of
inheritance of traits such as eye color or the
chance that a child born to parents with a
certain genotype will be born with a disorder.
• If the father is homozygous dominant (has 2
dominant genes for brown eye color) and the
mother is homozygous recessive (has 2 genes
for blue eye color) it can be predicted that
their children have a 100% chance of being a
heterozygous for a trait (brown eyed –
phenotype) that will carry a recessive gene for
blue eyes (genotype).
• If the father is heterozygous (has one
dominant and one recessive gene), a child
born to this couple has equal chance to have
brown eyes or blue eyed
• Suppose the mother is heterozygous, and the
father is homozygous dominant, the chances
are equal that their child will be homozygous
dominant like the father or heterozygous like
the mother. All the children’s phenotype will
be brown eyes
• Suppose both parents are heterogenous.
• There is a 25% chance of their child to being
homozygous recessive (appearing blue eyed),
50% chance of being heterozygous (appearing
brown eyed) and 25% homozygous dominant
(appearing brown eyed)
• This is how 2 brown eyed parents can produce
a blue eyed child.
 Inheritance of Disease
• AUTOSOMAL DOMINANT DISORDERS (ADD)
– More than 3,000 ADD are known only a few are
commonly seen.
– Most of them cause structural defects.
– With ADD, either a person has 2 unhealthy genes
(homozygous dominant) or is heterozygous, with
the gene causing the disease stronger than the
corresponding healthy recessive gene for the
same trait.
 Rule (ADD)
• A person who is heterozygous for an ADD
mates with a person who is free of the trait:
– 50% chance – child will have the disorder or would
be disease-free and carrier-free.
• 2 heterogenous people with a dominantly
inherited disorder to choose each other,
because of they do, their chances of having
children free from the disorder decline.
• There would only be 25% chance of a child’s
being disease and carrier-free.50% chance
that the child would have the disorder, 25%
chance that the child would be homozygous
dominant (incompatible with life.
 When assessing the family genogram:
• One of the parents of a child with the disorder
also will also will have the disorder (vertical
transmission)
• The sex of the affected individual is
unimportant in terms of inheritance
• The is usually a history of the disorder in other
family members
 Example:
• HUNTINGTON DISEASE
– A progressive neurologic disorder that usually
manifests symptoms between 35 and 45 years of
age and is characterized by loss of motor control
and intellectual deterioration.
– Analyzing a specific gene in chromosome 4
– No cure
• Facioscapulohumeral muscular dystrophy
– A disorder that result to muscle weakness
• Osteogenesis imperfecta
– A disorder in which bones are exceedingly brittle
•Marfan Syndrome
• A disorder of connective tissue in which the
child is thinner and taller than normal and may
Have associated heart defects.
 Autosomal Recessive Disorders
• Biochemical or enzymatic
• Do not occur unless 2 genes for a disease are
present (homozygous recessive pattern)
• Examples: Cystic fibrosis, adrenogenital
syndrome,albinism,Tay-sachs
disease,galactosemia,phenylketonuria, limb-
girdle muscular dystrophy and RH factor
incompatibility.
 Genogram
• Both parents are disease free but both are
heterozygous in genotype.
• The sex of the affected individual is
unimportant
• The family history for the disorder is negative
• A known common ancestor between the
parents sometimes exist.
 Screening and Diagnostic Testing

Pre-pregnancy:

• DNA analysis or karyotyping of both parents and an already

Affected child ( provides a picture of the family’s genetic pattern
And can be used for prediction in future children)
 GENETIC DISORDER SCREENING AND DIAGNOSTIC TEST

Test type Timing Process Risk Results

Nuchal 11-14 weeks UTZ to assess Noninvasive Screening test
translucency thickness at for Trisomy
fetus’s neck, 21,18,13
maternal blood
draw`

Chorionic Villi 10-12 weeks Biopsy of Invasive, risk of Diagnostic test

Sampling placenta miscarriage for
chromosomal
disorder

Amniocentesis 15-18 weeks Collection of Invasive, risk of Diagnostic test

amniotic fluid miscarriage for
containing fetal chromosomal
skin cells thru disorder
maternal
abdomen
 Test type Timing Process Risk Results
PUBS >17 weeks Fetal umbilical Invasive, risk for Diagnostic for
blood sampling miscarriage fetal blood
through disease
maternal
abdomen
Fetal anatomy 18-22 weeks UTZ of the fetal Noninvasive Screening test
ultrasound ideal timing anatomy for visual fetal
anomalies
Fetoscopy 2nd and 3rd Small camera Risk of Often used to
trimester and miscarriage treat disorders
instruments like twin-to-
passed into the twin
amniotic sac to transfusion
view and treat
anomalies
Newborn Day 2- several A blood sample Noninvasive Screening for
screening weeks after via heel prick or genetic
birth blood draw disorders
from newborn
Candidates for referral for genetic testing or
counseling:
• A couple who has a child with a congenital
disorder or an inborn error of metabolism.
• A couple whose close relatives have a child
with a genetic disorder such as chromosomal
disorder or an inborn error of metabolism.
• Any individual who is a known carrier of a
chromosomal disorder.
• Any individual who has an inborn error of
metabolism or chromosomal disorder.
• A consanguineous couple.
• Any woman older than 35 years of age and
any man older than 55 years of age.
• Couples of ethnic background in which specific
illnesses are known to occur.
 Legal and Ethical Aspects of
Genetic Screening and Counseling
• Legal responsibilities of genetic testing, counseling
and therapy:
– Participation by couples or individuals in genetic
screening must be elective.
– People desiring genetic screening must sign an informed
consent for the procedure
– Results must be interpreted correctly yet provided to
the individuals as quickly as possible,
– After genetic counseling, persons must not be coerced
to undergo procedures such as abortion or sterilization.
• Failure to heed these guidelines could result
to charges of invasion of privacy, breech of
confidentiality or psychological injury caused
by “labeling” someone or imparting
unwarranted fear and worry about the
significance of a disease or carrier state.
 Reproductive Alternatives
• Some couples are reluctant to seek genetic counseling
because they are afraid they will be told it would be
unwise to have children. Helping them to realize viable
alternatives for having a family exist can allow them to
seek the help they need.
– Alternative insemination by donor (AID) – if inherited by
male partner or is recessively inherited disorder carried by
both partners.
– Surrogate embryo transfer – if inherited by a female
– Surrogate mother
– Adoption
 Common Chromosomal Disorders Resulting in
Physical or Cognitive Developmental
• Trisomy 13 Syndrome (47XY13+ or 47XX13+)
– Patau Syndrome
– Extra chromosome 13 and cognitively challenged
– Manifestations:
• Midline body disorders (cleft lip and palate)
• Heart disorders (VSD)
• Abnormal genetalia
• Microcephaly with disorders of the forebrain and forehead
• Eyes are smaller than usual (microphthalmos) or absent
• Low-set ears
 Trisomy 18 Syndrome (Edwards syndrome)
47XX18+/47XY18+
• 3 copies of chromosome 18
• Severely cognitively challenged
• SGA
• Markedly low-set ears
• Small jaw
• Misshapen fingers and toes (the index finger
deviates or crosses over other finger)
• Rocker-bottom feet
• Mostly do not survive beyond infancy
Cri-du-chat syndrome (46XX5P-/46XY5p-)

• Result of missing portion of chromosome 5.

• Abnormal cry (cat-like cry)
• Small head, wide set eyes, downward slant to
the palpebral fissures of the eye
• Recessed mandible
• Severely cognitively challenged
 Turner Syndrome (45X0)
• Gonadal Dysgenesis
• Has only 1 functional X chromosome
• Short in stature and has only streak (small and non-
functional) ovaries
• Sterile
• Undeveloped secondary sex characteristics
• The hairline is low set
• Short and Webbed-neck
• DX: Nuchal translucency
• TX: Human growth hormone
 Klinefelter Syndrome (47XXY)
• Males with an extra X chromosome
• Characteristics may not be noticeable but at
puberty secondary sex characteristics do not
develop.
• Child’s testes remains small and produce
ineffective sperm.
• Gynecomastia and have an increased risk of
male breast cancer.
 Fragile X Syndrome (46XY23Q-)
• Most common cause of cognitive challenge in males.
• X-linked disorder (long arm of X chromosome)
• Male: Before puberty,demonstrate maladaptive behavior
(hyperactivity, aggression, or autism)
– Reduced intellectual function with marked deficits in speech
and arithmetic.
– PE: large head, long face with a high forehead, prominent
lower jaw, large protruding ears, and obesity
– Hyperextensive joints and cardiac disorder
– After puberty, enlarged testicles may be evident.
– Affected individuals are fertile and can reproduce.
Down Syndrome (Trisomy 21) 47XX21+/47XY21+

• Frequently occurring chromosomal disorder.

• Nose – broad and flat
• Eyelids have extra fold of tissue at the inner canthus ( epicanthal fold )
• Palpebral fissures tends to slant laterally upward.
• Brushfield spots – white specks in the iris
• Protruding tongue (oral cavity is smaller than usual)
• Back of the head is flat, neck is short, extra pad of fat at the base of
the head
• Low-set ears
• Poor muscle tone (Rag doll appearance in infant)
• Fingers are short and thick and little finger often curved inward
• Simean crease