Procreative Health

Creation, Procreation
& Evolution

• Creation – God create everything.

• Procreation – creation of human being a product
of sexual intercourse between a man & woman.
• Evolutionary theory – all things came about the
repeated random actions of natural selection
(survival of the fittest) by Charles Darwin.
Unitive & Procreative Aspect

• Marriage is when a man and woman unite as

one. (Unitive)
• Possibility of having children, creation of new
life. (Procreative)
Procreative Health

• Is the capability to generate offsprings.

• Innate ability of man to reproduce and keep our
species from dying out.
Theories related to
Procreation
• Theories of Conception

• Natural Law Theory

• An action is right if and only (and because) in performing the
action one does not directly violates any of the basic values.
• Human life
• Human procreation
• Human knowledge
• Human sociability
Risk factors for
Genetic Disorders

• Family history of genetic disorder.

• Prior child with genetic disorder.
• One parent has a chromosomal abnormality.
• Advance maternal age >35 years old.
• Advance paternal age >40 years old.
• Multiple miscarriage or prior stillbirth.
Genetics & Genetic
Counseling
Genetics
• Is the study of the way such disorder occur.
• Changing field of study, important for nurses to
keep in current with new advances.
• appreciate how a new discovery will affect a
family and child.
• Human Genome Project and determination of
the location of specific gens in the human
genome, improve screening technique.
Assessment
• Obtain detailed family history.
• At least 3 generations
• Physical examination of both parents and any
affected children.
• Series of laboratory studies
• Blood
• Amniotic fluid
• Maternal & fetal cells
1 trimester
st

• Routine sonogram
• Analysis of maternal serum level of α-fetoprotein
(MSAFP), pregnancy-associated plasma protein A
(PAPP-A), & free beta hCG.
• To evaluate for chromosomal disorders in the
fetus.
Nuchal
Translucency

Sonographic
appearance of a
collection of flid
under the skin
behind the fetal neck
in the 1st trimester of
pregnancy.
Nuchal translucency

• fetuses with chromosomal abnormalities,

cardiac defects and many genetic syndromes the
NT thickness is increased.
Alpha fetoprotein A (PAPP-A)
• Measure the amount of two substance in the
blood:
• Beta human chorionic gonadotropin (beta-hCG)
• Hormone made by the placenta
• High & low level are associated to birth defect
• Pregnancy-associated plasma protein A (PAPP-A)
• Protein in the blood
• Regulator of insulin-like growth factor
bioavailability essential for normal fetal
development.
Chromosomes

• Threadlike structures of nucleic acids and

protein found in the nucleus.
• Carry genetic information in the form of genes
Screening chromosomal
defects

• >35 years old

• Circulating cell-free DNA (cfDNA) testing
• Chorionic Villi Sampling (CVS)
• Amniocentesis
• Karyotype – graphic representation of the
chromosomes present.
Genetic Disorders

• Inherited disorders
• Can be passed from one generation to the next
generation.
• Common to same cultural groups (ethnic groups)
• Occupational hazards
• 50% of spontaneous miscarriage in 1st trimester
d/t chromosomal defects.
Cytogenetics

• study of chromosomes by light microscopy and

the method by which chromosomal aberrations
are identified.
Gene replacement therapy

• encouraging in the treatment of blood, neural

tube, eye, and congenital metabolic disorders as
well for cancer and immunodeficiency
syndromes.
Stem cells

• Can be obtain from:

• Bone marrow
• Embryos
• Umbilical cord blood
• Menstruation
Genes

• Basic units of heredity that determines both the

physical and cognitive characteristics of people.
• Composed of segments of DNA, they are woven
into strands in the nucleus of all body cells to
form chromosomes.
Chromosomes
• 46 chromosomes
• 44 autosomes
• 2 sex chromosomes
23 chromosomes spermatozoa
23 chromosomes ova
Alleles – 2 like genes on autosomes for every trait
in the ovum and sperm.
Phenotype

• refers to his or her outward appearance or the

expression of genes.
Mendelian Laws
• Gregor Mendel
• Austrian naturalist in 1800
• Homozygous – two healthy like genes
• Heterozygous – two different genes
• Dominant
• Recessive
Genetic Counseling & Testing
• Provide concrete, accurate information about the
process of inheritance and inheritance disorders.
• Reassure people who are concerned their child may
inherit a particular disorder will not occur.
• Allow people who are affected by inherited disorders
to make informed choices about future reproduction.
• Allow people to pursue potential interventions that
may exist such as fetal surgery.
• Allow families to begin preparation for a child with
special needs
• Ideal time of counselling is before first
pregnancy.
• Some before marriage
• After 1st birth with inherited disorders.
Beneficial for genetic
testing/counseling:
• Couple who has a child with a congenital
disorder or an inborn error of metabolism.
• Couple whose close relative have a child with
genetic disorders such as chromosomal disorders
or an inborn error metabolism.
• Any individual who is a known carrier of a
chromosomal disorders.
• Any individual who has an inborn error of
metabolism or chromosomal disorder.
• Consanguineous couple (closely related)
• Any woman older than 35 years of age and any
man older than 55 years of age.
• Couples of ethnic backgrounds in which specific
illness are known to occur.
Nursing Responsibilities
• Assessing sing and symptoms of genetic
disorders in offering support to individuals who
seek genetic counseling, and in helping with
reproductive genetic testing procedures.
• A great deal of time may need to be spent
offering support for a grieving couple confronted
with the reality of how tragically the laws of
inheritance have affected their lives.
Common principles apply
in genetic counseling

• The individual or couple being counseled needs

a clear understanding of the information
provided.
• It is never appropriate for a healthcare provider
to impose his or her own values or opinions on
others.
Assessment for Genetic
Disorders
• genetic assessment begins with careful study of
the pattern of inheritance in a family.
• A history, physical examination of family
members, and laboratory analysis, such as
karyotyping or DNA analysis, are performed to
define the extent of the problem and the chance
of inheritance.
• Parents can obtain a DNA analysis from a profit-
making private laboratory.
Reproductive Alternatives
• Alternative insemination by donor (AID)
• option for couples if the genetic disorder is one inherited by the male
partner or is a recessively inherited disorder carried by both partners.
• Surrogate embryo transfer
• If the inherited problem is one arising from the female partner, surrogate
embryo transfer is an assisted reproductive technique that is a possibility.
• An oocyte is donated by a friend or relative or provided by an
anonymous donor, which fertilized by the male partner sperm in the
laboratory and implanted in woman uterus.
• Surrogate mother
• Alternately inseminated, typically by male partner's sperm and carry the
fetus for the couple.
Common Chromosomal
Disorders
Resulting in physical or cognitive Development Disorders
Trisomy 13 Syndrome
• Patau syndrome
• Extra chromosome 13
• 47XY13+ or 47XX13+
• Severely cognitive challenge
• 0.45 per 1000 live births
• Midline body disorders
• Cleft palate/lip
• Heart disorders (VSD)
• Abnormal genitalia
• Microcephaly
• Microphthalmos
Trisomy 18 Syndrome
• Edwards syndrome
• 3 copies of chromosome 18
• 47XY18+ or 47XX18+
• 0.23 per 1000 live births
• Severe cognitive challenge
• Small for gestational age
• Markedly low-set ears
• Small jaw
• Congenital heart defects
• Misshapen fingers & toes
• Round soles rather than flat
•
 Cri-du-chat Syndrome
• result of a missing portion of chromosome 5
• 46XX5P− OR 46XY5P−
• Abnormal cry, sound like cat (https://youtu.be/TYQrzFABQHQ)
• Small head
• Wide-set eyes
• Downward slant to the palpebral fissure of the eye
• Recessed mandible
• Severely cognitive challenged
Turner Syndrome
• Gonadal dysgenesis
• 1 per 10,000 live births
• Only one functional X chromosome
• Short stature
• Small & nonfunctional ovaries
• Secondary sex characteristic do not develop at puberty
• Hairline at the nape of the neck is low set
• Neck appear to be webbed and short
• Newborn have appreciable edema of the hands and feet
• Number of congenital anomalies
• Human growth hormone administration
• Increase height
• Estrogen treatment at the age of 13
• Secondary sex characteristic
• Prevent osteoporosis
Klinefelter syndrome
• 47XXY
• Males with extra X chromosome
• Not noticeable at birth
• Testes remain small & produce ineffective sperm
• Develop gynecomastia
• 1 per 1000 live births
• Karytotyping can reveal the additional X
chromosome
Fragile X syndrome
• 46XY23Q-
• Cognitive challenge in males
• X-linked disorder
• 1 per 4000 males
• Maladaptive behaviors (hyperactivity, aggression or autism)
• Reduce intellectual functioning
• Deficit in speech & arithmetic
• Large head long face with high forehead
• Prominent lower jaw
• Large protruding ears
• Obesity
• Hyperextensive joints and cardiac disorders
Down syndrome
• Trisomy 21
• (47XY21+ OR 47XX21+)
• 1 in 800 pregnancies
• Women 35 and above, incidence of 1:100 live births
• Nose is broad and flat
• Eyelids have an extra fold of tissue at the inner canthus
• Palpebral fissure tends to slant laterally upward
• Iris of the eye, may have white specks (brushflied spots)
• Tongue protrude in the mouth, smaller oral cavity
• Head is flat
• Neck is short
• Extra pad of fat at the base of the head causes skin to be so loose
• Ears may be low set
• Muscle tone is poor (newborn: rag doll appearance)
• Toe can touched against the nose
• Fingers are short and thick
• Little finger is often curved inward
• Widespread in between 1st and 2nd toe and fingers.
• Palm of the hand show peculiar crease (simian line) single horizontal
crease rather than usual 3 creases in the palm.
• IQ 50-70
• Congenital heart disease (AVD)
• Stenosis or atresia of duodenum, strabismus, cataract may be
present.
Thank you.
• https://youtu.be/FQLmmhn8HOk - nuchal translucency
• https://pubmed.ncbi.nlm.nih.gov/24783354/ - Pregnancy-associated
plasma protein A (PAPP-A) and preeclampsia
Reference
• Maternal and Child Health Nursing Care 8th edition by Adele Pillitteri
and Joann Silbert-Flagg
• https://women.texaschildrens.org/program/high-risk-pregnancy-care/
conditions/genetic-disorders
- risk factors for genetic disorders.