GENETICS
disorders occur more commonly in
Genetics - the study of heredity and the
variation of inherited
characteristics.
Gene - is the basic biological unit of heredity
Heredity - is a biological process whereby a
parent passes certain genes onto their
children or offspring
GENE
ALLELES (DOMINANT OR RECESSIVE)
GENETIC DISORDERS
Autosomal
X-linked
ASSESSMENT FOR GENETIC
DISORDERS
A. Family History
Obtain information and document diseases
in family members for a
minimum of three generations - includes
half brothers and half sisters or
anyone related in any way as family.
Include the mother’s age - some disorders
increase in incidence with age.
Family’s ethnic background - certain
some ethnic groups than others
Any spontaneous miscarriages or children
in the family who died at birth
- many instances, these children died of
unknown chromosomal disorders.
Extensive prenatal history - to determine
whether environmental conditions could
account for the condition.
ASSESSMENT FOR GENETIC
DISORDERS
B. Laboratory Findings:
nuchal translucency sonogram
MSAFP (Maternal serum level of @
fetoprotein)
PAPP (Pregnancy associated plasma
protein)
beta hCG (beta human chorionic
gonadotropin)
cfDNA (cell free deoxyribonucleic acid)
CVS (chorionic villi sampling)
amniocentesis
NUCHAL TRANSLUCENCY
Timing: 11 to 14 weeks
Process: Ultrasound to assess
thickness at fetus’s neck , maternal blood
draw
Risk: non-invasive, ultrasound and Quadruple screening analyzes four
maternal blood flow indicators of fetal health:
Results: screening test for Down - AFP - Unconjugated estriol
Syndrome
- hCG - Inhibin A

cfDNA (cell free DNA)

Timing: 11 plus weeks, can be done

as early as 7 weeks Amniocentesis
Process: Maternal blood draw, fetal
cell fragments in maternal blood are Timing: 15-18 weeks
assessed
Process: collection of amniotic fluid
Risk: non-invasive, maternal blood containing fetal skin cells through maternal
flow abdomen
Results: screening test for Risk: invasive, risk of miscarriage
abnormal amounts of chromosomes and
microdeletions in Results: diagnostic for fetal
fetal DNA karyotype
Common Genetic disorders: Down
Syndrome, Trisomy 18, Trisomy 13, Cri-du-
Chorionic Villi Sampling chat syndrome, Fragile X syndrome, Turner
Syndrome, Klinefelter Syndrome
Timing: 10-12 weeks
Process: biopsy of placenta
Risk: invasive, risk for miscarriage Percutaneous Umbilical Blood sampling
Results: diagnostic test for
karyotype Timing: > 17 weeks
Process: Fetal umbilical blood
sampling through maternal abdomen
Maternal Quadruple Marker screen
Risk: invasive, risk of miscarriage
Timing: 15-20 weeks Results: diagnostic for fetal
karyotype and fetal blood disease
Process: Maternal blood flow
Risk: non-invasive, maternal blood
flow Fetal Anatomy Ultrasound
Results: Screening test for
Down syndrome, trisomy 18 and 13: Timing: 18-22 weeks, ideal timing
Process: ultrasound of the fetal Fear related to outcome of genetic
anatomy screening test
Risk: non-invasive, ultrasound Situational low self-esteem related to
identified chromosomal disorder.
Results: screening test for
visual fetal anomalies Deficient knowledge related to enheritance
pattern of the family’s inherited disorder

Fetoscopy
GENETIC DISORDERS
Inherited or genetic disorders are disorders
Timing: second and third trimester
that can be passed from one generation to
Process: small camera and the next because they result from some
instruments passed into amniotic sac to disorder in the gene or chromosome
view and treat anomalies structure.

Risk: invasive, risk of miscarriage Genetic disorders occur in some ethnic

groups more than others because people
Results: often used to treat tend to marry within their own cultural
disorders like twin-to-twin transfusion group.
Some genetic disorders may occur due to
Newborn Screening occupational hazards, such as toxic
substance in the environment of
workplaces.
Timing: Day 2-several weeks after
Genetic disorders occur at the the moment
birth
an ovum and sperm fuse when the
Process: a blood sample via heel prick chromosome count is halved from 46 to 23.
or blood draw from newborn 90% of first trimester spontaneous
miscarriages may occur as the result of
Risk: non-invasive, blood draw
chromosomal disorders.
from newborn
Other genetic disorders do not affect life in
Results: Screening for genetic
utero, so the result of the disorder only
disorders via serum DNA or other factors
becomes apparent at the time of fetal
PKU, Congenital hypothyroidism, testing or after birth
Galactosemia, Sickle cell disease, Maple
GENETIC INHERITANCE
syrup urine disease, Congenital adrenal
hyperplasia, G6PD (Glucose-6 Phosphate
Dehydrogenase Deficiency)
Genes

Nursing Diagnoses:
Chromosomes - 46 chromosomes
Decisional conflict related to continuation of
genetic affected pregnancy
alleles - two like genes
phenotype - outward appearance or the
expression of genes
genotype - actual gene composition
HOMOZYGOUS RECESSIVE
An individual with two genes for a recessive
trait is said to be homozygous recessive

MENDELIAN INHERITANCE

GREGOR MENDEL
- an Austrian naturalist known as Mendelian
laws
- concluded from his experiments that
"hereditary units" transmitted traits from
one generation to the next.

HOMOZYGOUS
person is said to be homozygous for a gene
if they have two identical copies of the gene.

HETEROZYGOUS
Heterozygous just means that a person has
two different versions of the gene (one
inherited from one parent, and the other
from the other parent).

HOMOZYGOUS DOMINANT
an individual with two homozygous genes
for a dominant trait.
Genetic counseling can result in making
individuals feal "weil" or free of guilt - if they
discover a disorder, they were worried
about is not an inherited one but rather
occurred by chance.
Genetic counseling can result in informing
individuals they are carriers of a trait
responsible for a child's condition.
The ideal time for discussing whether the
possibility of a genetic disorder exist is
before a first pregnancy at a preconception
health visit.
If a couple did not receive counseling before
a first pregnancy, it is best if they receive it
before a second pregnancy