Final exam
blueprint
\Week 13: Sexuality
19.2 Family Planning
o Preconception health promotion
▪ Helping the couple be in the best possible health state so they
don’t enter pregnancy with unnecessary health risks.
▪ Stop smoking and limit secondhand smoke.
▪ Avoid or limit caffeine.
▪ No alcohol or drugs
▪ Discuss the use of RX drugs with HCP. This includes
prescription & non- prescription drugs. Accutane (acne
medication) was mentioned.
▪ If woman has thyroid disorders, seizures, HTN, DM, she should see
appropriate specialist to be sure pregnancy is advised and to
change meds if needed.
▪ Determine possible environmental hazards such as radiation or chemical
expose in their community or at work.
o Physical exam
▪ Both parents should have a physical to identify health
problems so they can be corrected if possible.
▪ Genetic counseling if woman is over 35 and has a family history of
genetic disorders.
▪ Dental exam before pregnancy to avoid x-rays, local
anesthetic, and infection during pregnancy
▪ Age less than 16 is also a problem.
o Nutrition
▪ Woman should be average weight for build and height. BMI= 18-24
▪ Underweight women should gain.
▪ Overweight women should lose
▪ Follow nutritious diet rich in essential nutrients: calcium,
protein, iron, B- complex, vitamin C, magnesium and folic acid.
▪ Avoid vitamins in excess. They can cause severe fetal problems.
▪ Cultural norms that affect nutritional intake should also be assessed.
▪ Normal weight gain is 25-35lbs.
▪ PICA - eating weird things because you crave them. Example
dirt, ass, clay, just weird things in general.
o Exercise
▪ Continue present pattern of exercise or begin regular exercise
3 months before pregnancy.
▪ Aerobic exercise and general muscle toning will improve circulation and
general health.
▪ 30 min of mod exercise daily.
▪ Don’t start anything during pregnancy that you were not
doing before pregnancy.
o Immunizations
▪ DO THIS!!
▪ All immunizations should be complete 3 months prior to
conception, especially rubella.
, ▪ flu at anytime during pregnancy
o Infertility possible causes and common medications
▪ Infertility- lack of conception despite unprotected sex for 12 months.
, ▪ Subfertility- both partners have reduced fertility.
▪ Secondary infertility- couples unable to conceive after one
or more successful pregnancies or who cannot sustain a
pregnancy. (These women can get Progesterone to help
maintain pregnancy)
▪ Men – alcohol abuse, tobacco or drugs, exposure to environmental
toxins, certain RX drugs, or previous cancer treatment and age
(higher risk in women)
▪ Women – excess alcohol intake, tobacco use, stress, poor diet, being
under or overweight, athletic training, health problems that
affect hormones, STIs, or age.
▪ Women over 35 – smaller # of eggs, eggs left aren’t as healthy, prone to
miscarriage. Eggs are old as shit.
o Genetics
▪ Abnormal chromosomal number
● Most often caused by nondisjunction, a failure of
paired chromosomes to separate properly
during cell division.
● If nondisjunction occurs in either the sperm or the egg before
fertilization, the zygote will have an abnormal
chromosome makeup in all the cells.
o Each cell that develops will be monosomic (having only
one copy of a particular chromosome).
o Or trisomic (having 3 copies of a particular chromosome).
● If nondisjunction occurs after fertilization, the
developing zygote will have cells with 2 or more
different chromosomal makeups, evolving into 2 or
more different cell lines (mosaicism).
● Mosaics have trisomy occurring in some but not all of the cells of
the body, in which case the manifestations are not as severe.
● Trisomies – product of the union of a normal
gamete with a gamete that contains an extra
chromosome.
o Down syndrome is the most common trisomy.
o Extra chromosome 21.
o Common - 21, 18, 13
● Monosomies – occur when a normal gamete unites with a
gamete that is missing a chromosome.
o Most common monosomy is Turner Syndrome.
o If a fetus with monosomy survives, it is due to mosaicism.
▪ These individuals are sterile females.
▪ Abnormal chromosomal structure
● Involve only parts of the chromosome and occur in 2 forms:
o Translocation
o Deletions or additions
● Some people with down syndrome have an abnormal
rearrangement of chromosomal material known as a
translocation
o Clinically the 2 types of down syndrome are
indistinguishable unless you do a chromosomal analysis.
● Structure abnormality also caused by additions or
deletions of chromosomal material.
o Depending how much chromosomal material is involved,
, the clinical effects may be mild or severe.
▪ Abnormal sex chromosome
● In a female, at an early embryonic stage, one the two
normal X chromosomes becomes inactive.
o The inactive X chromosome forms a dark stain known as
the Barr body.
o Normal female has one Barr body because one of
her two X chromosomes has be inactivated.
o The normal male has NO Barr body because he has only
one X chromosome.
● Females most common abnormality is Turner syndrome.
(XO with no Barr body present)
● Males most common abnormality is Klinefelter syndrome (XXY
with one Barr body present)
o Modes of inheritance (define) not adding in the mendelian stuff yet
▪ Autosomal dominant
● If the disease trait is heterozygous.if the abnormal
gene overshadows the normal gene of the pair to
produce the trait.
● Remember:
o The affected individual generally has an affected
parent. Family tree will show multiple
generations with the disorder.
o Affected individuals have a 50% chance of passing
on the abnormal gene to each child.
o Males and females are equally affected.
o The father can pass abnormal gene to son.
o Disorders have varying degrees of presentation.
Parent may have a mild form and child have a
severe form.
● Examples: huntington disease, polycystic kidney disease,
neurofibromatosis, and achondroplastic dwarfism.
▪ Autosomal recessive
● The individual must have two abnormal genes, one from
mom and one from dad to be affected.
● Remember:
o Affected individual may have clinically normal
parents but both parents are carriers of the
abnormal gene.
o When both parents are carriers, there is a 25%
chance
that the abnormal gene will be passed on to any child.
o If a child of two carrier parents is clinically normal,
there is a 50% chance that the child is a carrier of
the gene.
o Both males and females equally affected.
o There is an increased history of consanguineous
matings (mating of close relatives)
o Use and remember how to do a Punnit Square.
● Examples: CF, phenylketonuria, sickle cell, galactosemia,
Tay- Sachs disease, and most metabolic disorders. After
testing you are notified through your Pediatrician but
ONLY for abnormalities.
▪ X-linked recessive