Exam 2 Study Guide OB

1. Reasons for Contraceptive Use: P 81

They enjoy improved health and a lower incidence of sexually transmitted infections,
including HIV.
They have lower rates of induced, sometimes unsafe, abortions.
They have fewer unwanted pregnancies and births.
They have the opportunity to get more education and to find jobs, which enhances
their economic and social status and improves the well-being of their families.
Up to 150,000 maternal deaths per year could be avoided if contraception was
available and used by
women who did not desire children
2. Contraceptive Effectiveness: P 81
The two leading contraceptive methods in the United States are the combined oral
contraceptive pill for women younger than 35 years of age and sterilization for women
over the age of 35. Use of the condom
and other barrier methods has increased because of the prevalence of sexually
transmitted infections.
3. Client assessment for contraceptive choice?
TABLE 5-1 Factors to Consider in Choosing a Method of Contraception
Effectiveness of method in preventing pregnancy
Safety of the method: Are there inherent risks? Does it offer protection against sexually
transmitted infections (STIs) or other conditions?
Patients age and future childbearing plans
Any contraindications in patients health history
Religious or moral factors influencing choice
Personal preferences, biases
Lifestyle: How frequently does patient have intercourse? Does she have multiple
partners? Does she have ready access to
medical care in the event of complications?
Is cost a factor?
Partners support and willingness to cooperate
Personal motivation to use method
4. Basal Body Temperature P82: This method is based on the fact that the temperature
almost always rises and remains elevated after ovulation because of the production of
progesterone, a thermogenic (heat-producing) hormone, produced by the corpus luteum
cyst. To avoid conception, the woman and her partner abstain from intercourse, or use a
barrier method, on the day of the temperature rise and for 3 days following. Because the
temperature rise does not occur until after ovulation, if the woman had intercourse just
before the rise she may be at risk of pregnancy. provides an objective record of fertile
days by the woman taking her temperature every morning upon awakening (before any
activity) and record the findings on a temperature graph.
5. Natural Family Planning: FAB methods take into account the lifespan of sperm (27
days) and the ovum (13 days) in the female reproductive tract. Maximum fertility for the

woman occurs approximately 5 days before ovulation and decreases rapidly the day
after. Therefore, the couple must abstain from intercourse, or use a barrier method,
during the fertile days. If the couple using a FAB method also uses a barrier method
during fertile days, it is known as fertility awareness-combined methods.
If the couple abstains completely from intercourse during fertile days, it is known as
natural family planning (NFP). NFP is free, safe, and acceptable to many whose
religious beliefs prohibit other methods. It provides an increased awareness of the
menstrual cycle, involves no artificial substances or
devices, encourages a couple to communicate about sexual activity and family
planning, and is useful in helping a couple plan a pregnancy.
6. Vaginal Sponge PP87-88 : The Today vaginal sponge, available without a
prescription, is a pillow-shaped, soft, absorbent synthetic sponge containing a
spermicide. It is made with a concave or cupped area on one
side, which is designed to fit over the cervix. It has a loop to permit easy removal. The
sponge acts as a contraceptive by releasing the spermicide N-9 gradually over a 24hour period. The sponge is moistened thoroughly with water before use to activate the
spermicide and is then inserted into the vagina so that the cupped side fits snugly
against the cervical os. This decreases the chance of the sponge being dislodged
during intercourse. The sponge may be worn for up to 24 hours. It should be left in
place for at least 6 hours after intercourse and then removed and discarded.
Advantages of the sponge include the following: professional fitting is not required; it
may be used for multiple acts of coitus for up to 24 hours; one size fits all; and it acts as
both a barrier method and a spermicide agent. Problems associated with the sponge
include difficulty removing it and irritation or allergic reactions. Some women also report
a problem because the sponge absorbs vaginal secretions, contributing to vaginal
dryness. For women without children the failure rate is comparable to that of the
diaphragm. The failure rate is higher for
women who have borne children, possibly because of changes in the shape of the
cervix.
7. Intrauterine Device P 88: Both of the intrauterine devices (IUDs) available in the US
are designed to be inserted into the uterus by a qualified healthcare provider and left in
place for an extended period, providing continuous contraceptive protection. The
Copper IUD (ParaGard T380A) provides effective contraception for 10 years, whereas
the Mirena levonorgestrel intrauter- ine system (LNG-IUS) provides 5 years of
protection. The exact mechanism of either IUD is not clearly understood. The Copper
IUD is known to have local inflammatory effects on the endometrium and to impair
sperm from functioning properly. The Mirena IUD causes the lining of the uterus
(endometrium) to become atrophic. It also produces thick cervical mucus that is hostile
or unfriendly to sperm. Both IUDs produce a spermicidal intrauterine environment.
Advantages of both IUDs include a high rate of effectiveness, continuous contraceptive
protection, noncoitusrelated contraception, and relative inexpensiveness over time.
The Copper one is good for women that cannot tolerate hormones. The Mirena is great
for women with heavy cycles, after 3 months they have ammorhea.

Possible adverse reactions to both IUDs include discomfort to the wearer (possible
cramping), increased bleeding during menses, increased risk of pelvic infection for
about 3 weeks following insertion, perforation of the uterus during insertion,
unscheduled bleeding, dysmenorrhea, and expulsion of the device.
There are few women for whom either IUD is contraindicated. A current pregnancy or
current STI or pelvic infection would be contraindications. Also, if the woman is allergic
to copper.
warning signs: late period, abnormal spotting or bleeding, dyspareunia (pain with
intercourse), abdominal pain, abnormal discharge, signs of infection (fever, chills,
malaise), missing strings, or lengthening of the strings. If a woman becomes pregnant
with an IUD in place, the device should be removed as soon as possible to prevent
infection.
8. Diaphragm P87: The diaphragm is a barrier method that consists of a steel band that
forms a ring and is covered with latex or silicone so that when the diaphragm is
inserted, the ring lodges high in the vagina with the latex or silicone covering the cervix.
It is used with spermicidal cream or jelly and offers a good level of protection from
conception. Three types of diaphragms are availablethe flat spring, the coil spring,
and the arcing spring. Each type has its own advantages, and the type of coil makes the
different diaphragms better suited to some women than to others. A woman must be
fitted with a diaphragm and given instructions by trained personnel. The diaphragm
should be rechecked for correct size after
each childbirth and whenever a woman has gained or lost 10 to 15 pounds or more.
It is necessary to leave the diaphragm in place for at least 6 hours after the act of
coitus. If intercourse is desired again within the 6 hours, another type of contraception
must be used or additional spermicidal jelly placed in the vagina with an applicator,
taking care not to disturb the placement of the diaphragm. The diaphragm should not
remain in the vagina for more than 24 hours because of the risk of toxic shock
syndrome.
Periodically check for holes. If properly maintained, it can last for several years, so it is a
cost-effective method of contraception. The diaphragm should be washed and dried well
after each use and then stored in a dry container.
Women who have had TSS, frequent UTIs, and should not be used during
menstrual cycle.
9. Depo Provera P92: is a long-acting, injectable, progestin-only contraceptive. DMPA is
manufactured in 2 dosings: DMPA-IM 150 mg for intramuscular use or DMPA-SC 104
mg for subcutaneous use. Both provide highly effective birth control for 3 months after
administration with subsequent injections scheduled every 10 to 14 weeks. DMPA-SC
may cause less pain than an intramuscular (IM) injection and could be selfadministered, increasing compliance by not having to return every 3 months to the
clinic.
DMPA, which acts primarily by suppressing ovulation, is safe, convenient, private, and
relatively inexpensive. It also separates birth control from the act of coitus. It can be
given to nursing mothers, because it contains no estrogen. DMPA provides blood levels
of progesterone high enough to block the

luteinizing hormone (LH) surge, thereby suppressing ovulation. It also thickens the
cervical mucus to block sperm penetration.
Side effects include menstrual irregularities, headache, weight gain, breast tenderness,
hair loss, and depression. Return of fertility may be delayed for an average of 9 months.
DMPA is associated with bone demineralization, especially during the first 2 years of
use. The rate of calcium loss slows after this time, and bone loss is reversible after
discontinuation of DMPA. All women should exercise daily and take 1200 mg of calcium
with vitamin D.
10. Oral Contraceptives PP 90-91 and ATI P6:
Hormonal contraception containing estrogen and progestin act on suppressing
ovulation, thickening the cervical mucus to block semen, and altering the uterine
decidua to prevent implantation.
Medication requires a script and follow-up appts. The medication requires consistent
use to be effective. If one pill is missed take ASAP, if 2-3 pills missed instruct the client
to use alternative forms of contraception and follow manufacturers instructions.
It is highly effective is used correctly. Medication can relieve dysmenorrhea by
decreasing menstrual flow and cramps. Reduces acne.
Do not prevent against STIs. Birth control pills can increase
COCs)commonly called birth control pills or the pillare a combination of a
synthetic estrogen and a progestin. COCs are one of the most popular contraceptive
options available to women in the United
States because they are safe, highly effective, and rapidly reversible. Most COCs are
taken daily for 21 or 28 days, following one of these methods:
Day 1 start: The woman begins taking the pill on the first day of her menstrual
cycle. This method prevents ovulation in the first cycle, so no backup method of
contraception is needed.
Sunday Start The woman begins taking the pill on the Sunday after the first day
of the menstrual cycle and ends the packet on a Saturday. The Sunday start is common
because it tends to prevent periods on weekends. However, a backup method of
contraception is necessary during the first 7 days of use.
Quick start. The woman begins taking the pill in the practitioners office if she is
reasonably certain she is not pregnant. A backup method is necessary for 7 days COCs
are packaged with 21 or 28 pills. Seven days after taking her last pill, the woman using
the 21-day pack of pills restarts the next cycle of pills. The 28-day pack includes seven
blank pills so that the woman never stops taking a pill and thus never forgets to start a
new pack a week later. Women who use either the 21- or 28-day COC pack will always
begin a new pack on the same day. The pill should be taken at approximately the same
time each dayusually on arising or before retiring in the evening. SeasonaleR and
SeasoniqueR are the two COCs marketed for extended use. Women who choose
Seasonale take 84 active pills containing estrogen and a progestin followed by 7 blank
pills, and those who take Seasonique take 84 active pills and 7 pills with a reduced
dosing of estrogen intended to promote less bleeding. Women taking either extended
use COC have 4 withdrawal bleeds per year rather than 12. Extended use reduces the
side effects of COCs such as bloating, headache, breast tenderness, cramping, and
swelling

TABLE 5-2 Side Effects Associated with Oral Contraceptives

ESTROGEN EFFECTS
PROGESTIN EFFECTS
Alterations in lipid metabolism
Acne, oily skin
Breast tenderness, engorgement
Breast tenderness; increased breast size
or increased breast size
Cerebrovascular accident
Decreased libido
Changes in carbohydrate metabolism Decreased high-density lipoprotein(HDL)
cholesterol levels
Chloasma
Hirsutism
Fluid retention; cyclic weight gain
Depression
Headache
Fatigue
Hepatic adenomas
Increased appetite; weight gain
Hypertension
Increased low-density lipoprotein(LDL)
cholesterol levels
Leukorrhea, cervical erosion,
Oligomenorrhea, amenorrhea
Ectropion
Pruritus
Nausea
Sebaceous cysts
Nervousness, irritability
Telangiectasia
Thromboembolic complications
thrombophlebitis, pulmonary
embolism
11. Emergency Contraception P 92 and ATI 8: Postcoital emergency contraception
(EC) is indicated when a woman is worried about pregnancy because of unprotected
intercourse, sexual assault, or possible contraceptive failure (e.g., broken condom,
slipped diaphragm, missed oral contraceptives, or too long a time between depotmedroxyprogesterone acetate [DMPA] injections). Research indicates that oral
hormonal EC taken as soon as possible within 72 hours can reduce the risk of
pregnancy after a single act of unprotected intercourse by 75%. Two hormonal
regimens for EC include a combined hormonal approach (levonorgestrel and ethinyl
estradiol), and Plan B, a progestin-only approach (levonorgestrel). Though sometimes
called the morning-after pill, which should be taken immediately and then 12 hrs later.
Can be obtained w/o script by 17yo+
Does not protest against STD, Does not terminate existing pregnancy, as such
contraindicated. Also, if woman has undiagnosed abnormal bleeding. Evaluation
needed if no menses w/I 21 days.
Dis: Nausea, heavy menses, lower abd pain, fatigue, HA
The medical abortion-inducing drug, mifepristone, is very effective in providing
emergency contraception. However, its use is highly restricted and it is not currently
approved for emergency contraception (
12. ESSURE Method P 94 and ATI 11: Is 99.8% effective. The Essure method of
permanent sterilization by Conceptus requires no surgical incision. Under hysteroscopy,

a stainless steel micro insert is placed into the proximal section of each fallopian tube.
Within 3 months, these micronserts create a benign tissue response (scarring) that
occludes the fallopian tubes. Three months after placement, tubal occlusion is
confirmed by hysterosalpingogram. One of the materials used in the production of the
implants is a nickel-titanium alloy; therefore, women allergic to nickel should consult
their healthcare provider before placement. It is the only sterilization method approved
in the United States that will yield no surgical scar.
Quick procedure, not reversible, non-hormonal, not for postpartum pt, changes in
menses, perforation can occur, pregnancy can occur if patient has sex w/o protection
during 3 months and it would be ectopic.
13. Meiosis: Meiosis produces cells called gametes (ova and sperm) that are necessary
for reproduction of the species. It occurs during gametogenesis (oogenesis and
spermatogenesis) and consists of two successive cell divisions (reduction division),
which produce a gamete with 23 chromosomes (22 chromosomes and 1 sex
chromosome)the haploid number of chromosomes.
14. Mitosis: Mitosis is the process by which additional somatic (body) cells are formed. It
provides growth and development of the organs and replacement of body cells.
15. Human Chromosomes chromosomes, which determine the structure and function of
organ systems and traits. Human (body) cells contain within their nuclei threadlike
bodies known as chromosomes, which are composed of strands of deoxyribonucleic
acid (DNA) and protein. Each chromosome contains two longitudinal halves called
chromatids, which are joined together at a point called the centromere. Chromosomes
are classified according to their length and to the position of their centromere. When the
centromere is centrally located, the longitudinal halves are divided into one short arm
region and one long arm region, and the chromosome resembles an X. This is the
shape of most human chromosomes. Every body (somatic) cell in the human body
contains 46 chromosomes, referred to as the diploid number of chromosomes. These
are divided into 23 pairs. There are 22 pairs of similar cells in both males and females,
called autosomes, and one pair of sex chromosomes (XX in females, XY in males). One
chromosome of each pair is contributed by the individuals mother, and the other is
contributed by the father. The two chromosomes carrying matching genetic information
that make up each pair are called homologous chromosomes or homologs. Each
homologous chromosome pair carries genes coding for similar traits in identical
locations on the chromosomes. Genes that are similar are called homozygous genes,
whereas dissimilar genes are referred to as heterozygous genes
16. Gametogenesis P 219: Meiosis, the process by which gametes are formed, can also
be called gametogenesis, literally creation of gametes. The specific type of meiosis
that forms sperm is called spermatogenesis, while the formation of egg cells, or ova, is
called oogenesis. The most important thing you need to remember about both
processes is that they occur through meiosis, but there are a few specific distinctions
between them.

17. Oogenesis Just like spermatogenesis, oogenesis involves the formation of haploid
cells from an original diploid cell, called a primary oocyte, through meiosis. The female
ovaries contain the primary oocytes. There are two major differences between the male
and female production of gametes. First of all, oogenesis only leads to the production of
one final ovum, or egg cell, from each primary oocyte (in contrast to the four sperm that
are generated from every spermatogonium). Of the four daughter cells that are
produced when the primary oocyte divides meiotically, three come out much smaller
than the fourth. These smaller cells, called polar bodies, eventually disintegrate, leaving
only the larger ovum as the final product of oogenesis. The production of one egg cell
via oogenesis normally occurs only once a month, from puberty to menopause.
The male testes have tiny tubules containing diploid cells called spermatogonium that
mature to become sperm. The basic function of spermatogenesis is to turn each one of
the diploid spermatogonium into four haploid sperm cells. This quadrupling is
accomplished through the meiotic cell division detailed in the last section. During
interphase before meiosis I, the spermatogoniums 46 single chromosomes are
replicated to form 46 pairs of sister chromatids, which then exchange genetic material
through synapsis before the first meiotic division. In meiosis II, the two daughter cells go
through a second division to yield four cells containing a unique set of 23 single
chromosomes that ultimately mature into four sperm cells. Starting at puberty, a male
will produce literally millions of sperm every single day for the rest of his life.
18. Implantation or Nidation P222-223 While floating in the uterine cavity, the blastocyst
is nourished by the uterine glands, which secrete a mixture of lipids,
mucopolysaccharides, and glycogen. The trophoblast attaches itself to the surface of
the endometrium for further nourishment. The most frequent site of attachment is the
upper part of the posterior uterine wall (Figure 11-5). Between days 7 and 10 after
fertilization, the zona pellucida disappears, and the blastocyst implants itself by
burrowing into the uterine lining and penetrating down toward the maternal capillaries
until it is completely covered (Moore & Persaud, 2008). The lining of the uterus thickens
below the implanted blastocyst, and the cells of the trophoblast grow down into the
thickened lining, forming processes called chorionic villi.
Under the influence of progesterone, the endometrium increases in thickness
and vascularity in preparation for implantation and nourishment of the ovum. After
implantation, the endometrium is called the decidua. The portion of the decidua that
covers the blastocyst is called the decidua capsularis; the portion directly under the
implanted blastocyst is the decidua basalis; and the portion that lines the rest of the
uterine cavity is the decidua vera (parietalis). The maternal part of the placenta
develops from the decidua basalis, which contains large numbers of blood vessels. The
chorionic villi (discussed shortly) in contact with the decidua basalis will form the fetal
portion of the placenta.
19. Sex determination: The X and Y chromosomes, which are responsible for sex
determination. Sex is determined at time of fertilization.

20. Fetal organ formation Organogenesis The formation and development of body
organs that occurs during the first trimester of pregnancy
21. Fraternal versus Identical twins Twins are either dizygotic (fraternal) or monozygotic
(identical). Dizygotic twins arise from two separate ova fertilized by two separate
spermatozoa. Monozygotic twins develop from a single ovum fertilized by a single
spermatozoon. Multiple gestation pregnancies are pregnancies with more than one
fetus. They are more common now because of the use of ovulation stimulating drugs
and assisted reproductive technology (ART).
Approximately one third of twins are monozygotic (from one egg)
and two thirds are dizygotic (from two eggs).
Monozygotic twins are from one zygote that divides in the first week of gestation.
They are genetically identical and similar in appearance and always have the same
gender.
Dizygotic twins result from fertilization of two eggs. Dizygotic twins may be the same
or differing genders.
There are two principal placental types, monochorionic (one chorion) and dichorionic
(two chorions). About 20% of twins are monochorionic. Monoamniotic twins are the least
common (1%) and results in an amniotic sac containing both twins. Because they share
the same sac, monoamniotic twins have a fetal mortality rate of 50% to 60% due to
entangling of umbilical cords
22. Fetal stage versus P 236:Embryonic stage of development: The embryonic stage
begins in the third week after fertilization; The stage of the embryo starts on day 15
(beginning of the third week after conception) and continues until approximately 8
weeks or until the embryo reaches a crown-to-rump (CR) length of 3 cm (1.2 in.). This
length is usually reached about 56 days after fertilization (the end of the eighth
gestational week). During the embryonic stage, tissue differentiates into essential
organs, and the main external features develop. The embryo is most vulnerable to
teratogens during this period.
The fetal stage begins in the ninth week. By the end of the eighth week, the embryo is
sufficiently developed to be called a fetus. Every organ system and external structure
that will be found in the full-term newborn is present. The remainder of gestation is
devoted to refining structures and perfecting function.
23. Fetal heart sound: is the tubular heart beats at a regular rhythem and pushes its
own primitive blood cells through the main blood vessels in the 4 th week of fetal
development.
24. Intrauterine environment: Do not use saunas or hot tubs as they are associated with
maternal hyperthermia, and can cause CNS defects and failure of neural tube closure.
Drugscan have teratogenic effects, deficient maternal nutrition can cause damage to the
fetus, vitamins and folic acid taken prior and before can have beneficial effects.

25. Factors associated with congenital malformations: The first months of pregnancy
are the most vulnerable time for a fetus. Malformations can usually be traced back to
the development with in the first three weeks.
27. Fetal oxygen exchange In the fetus, gas exchange occurs in the placenta. The fetal
circulation is shunt-dependent. Cardiac output in the fetus is defined in terms of
combined ventricular output (CVO).The presence of fetal haemoglobin and a high CVO
help maintain oxygen delivery in the fetus despite low oxygen partial pressures. The
transition from fetal to neonatal life involves closure of circulatory shunts and acute
changes in pulmonary and systemic vascular resistance. The placenta functions as the
lungs for the fetus.
Fetal Circulation
Ductus venosis
Shunts blood past the liver into vena cava
Foramen ovale
Opening between the right and left atrium
Allows oxygenated blood to bypass lungs
Ductus arteriosis
Opening between the pulmonary artery and aorta
Allows oxygenated blood to bypass lungs
Umbilical cord
One vein (carries oxygenated blood from placenta)
Two arteries (carry waste products back to the placenta)
28. Hormones of pregnancy After the development of a functioning placenta, the
placenta produces most of the hormones of pregnancy including estrogen,
progesterone, human placental lactogen (hPL), and relaxin. Each of these hormones
plays a role in the physiology of pregnancy, resulting in specific alterations in nearly all
body systems, as described in this chapter, to support maternal physiological needs,
maintenance and progression of the pregnancy, and fetal growth and development.
29. Function of amniotic fluid:
Act as a cushion to protect the embryo against mechanical Injury,
Help control the embryos temperature (relies on the mother to release heat).
Permit symmetric external growth and development of the embryo.
Act as an extension of fetal extracellular space (hydropic infants have increased
amniotic fluid).
Prevent adherence of the embryo-fetus to the amnion (decreases chance of amniotic
band syndrome) to allow freedom of movement so that the embryo-fetus can change
position (flexion and extension), thus aiding in musculoskeletal development.
Allow the umbilical cord to be relatively free of compression.
Act as a wedge during labor.
Provide fluid for analysis to determine fetal health and maturity.
30. Fertility evaluation P243: Young couples with no history that is suggestive of
reproductive disorders should be referred for infertility evaluation if they have been
unable to conceive after at least 1 year of attempting to achieve pregnancy. An earlier

workup is indicated in couples with positive history for fertility-lowering disease or

advancing maternal. In women over 35 years of age, it is appropriate to refer the couple
after only 6 months of unprotected intercourse without conception or earlier if clinically
indicated. The most important determinant of a couples fertility is the age of the woman.
The cumulative conception rate for women up to age 25 is 60% at 6 months and 85% at
1 year.
31. Fertility drug effect P 254: Drugs commonly used for ovarian stimulation in the
follicular phase, control of midcycle release, and luteal phase support. The
pharmacologic treatment chosen depends on the specific cause of the infertility.
Antiestrogenic effects may cause decrease in cervical mucus production and
endometrial lining development. Other side effects include vasomotor flushes;
abdominal distention and ovarian enlargement secondary to follicular growth (bloating)
and multiple corpus luteum formation; pain, soreness, breast discomfort; nausea and
vomiting; visual symptoms (spots, flashes); headaches, dryness or loss of hair; multiple
pregnancies.
32. Spermatogenesis
Production of sperm begins during puberty:
First meiotic division: Primary spermatocyte replicates and divides
Second meiotic division: Secondary spermatocytes replicate and divide
Produce four spermatids
Series of changes
33. Genetic counseling P274
Genetic counseling is a communication process in which the genetic counselor,
physician, or specially trained and certified nurse helps a family or individuals
understand and adapt to the medical, psychologic, and familial implications of genetic
contributions to disease: Chromosomal abnormalities, Congenital abnormalities,
including intellectual disability, Familial Disorders, Known inherited diseases, and
Metabolic Disorders.
TABLE 12-11 Nursing Responsibilities in Genetic Counseling
Identify families at risk for genetic problems.
Determine how the genetic problem is perceived and what information is desired
before proceeding.
Assist families in acquiring accurate information about the specific problem.
Act as liaison between family and genetic counselor.
Assist the family in understanding and dealing with information received.
Provide information on support groups.
Aid families in coping with this crisis.
Provide information about known genetic factors.
Ensure continuity of nursing care to the family.
Assessment and identification of client
Clinically identified affected person

Birth of affected child

Parental age
Prenatal test results
Family history Pedigree chart generated and risk established
Further testing of client and/or other family members
Implications, options, outcomes discussed
Genetic Screening:
Purpose: Early detection of diseas
Identification of carriers for pregnancy planning
Obtain population data on genetic diseases
Various time frames for testing
General populations (sickle cell disease)
Relatives of known carrier or affected person
Preconception (Tay-Sachs)
Postconception (prenatal) involving known carriers
Newborn testing (PKU)
34. Autosomal Dominant P266 A person is said to have an autosomal dominantly
inherited disorder
if the disease trait is heterozygous; that is, the abnormal gene overshadows the normal
gene of the pair to produce the trait. The genetic condition may be familial, meaning it
was passed to an individual from one of his or her parents; or it may be the result of a
de novo (new) mutation that occurred during meiosis of the egg or sperm that created
the individual, and he or she is the first and only affected person in the family. In
autosomal dominant inheritance, the following occurs:
An affected individual may have an affected parent. The family pedigree (graphic
representation of
a family tree) usually shows multiple generations having the
disorder.
Affected individuals have a 50% chance of passing on the abnormal gene to each of
their children
Males and females are equally affected, and a father can pass the abnormal gene on
to his son. This is an important principle when distinguishing autosomal dominant
disorders from X- linked disorders.
Autosomal dominant inherited disorders have varying degrees of presentation. This is
an important factor when counseling families concerning autosomal dominant
disorders. Although a
parent may have a mild form of the disease, the child may
have a more severe form.
35. Nuchal Translucency Testing A combination of an ultrasound and maternal serum
test that is used to screen fetuses between 11 weeks and 1 day and 13 weeks and 6
days to determine if a fetus is at risk for a chromosomal disorder, such as Down
syndrome (trisomy 21) and trisomy 18. The nuchal translucency test is a blood test and
sonogram combined that screens for trisomy 18 and 21. The test is more accurate than
the quadruple screen and is done earlier. Some insurance may not cover the test
though, so you will need to call your insurance company to see if it is covered.

36. Amniocentesis P 92: is a diagnostic procedure in which a needle is inserted through

the maternal abdominal wall into the uterine cavity to obtain amniotic fluid. It is
commonly performed for genetic testing (at 1420 weeks gestation), assessment of
fetal lung maturity, and assessment of hemolytic disease in fetus or for intrauterine
infection. Risk factors for fetal genetic disorders include advanced maternal age (older
than 35 years of age), history of genetic disorders, positive screening test such as a
positive alpha-fetoprotein, and known or suspected
hemolytic disease in the fetus. Assess fetal and maternal well-being post-procedure.
Instruct the woman to report abdominal pain or cramping, leaking of fluid, bleeding,
decreased fetal movement, fever, or chills to the care provider.
Administer RhO(D) immune globulin (RhoGAM) to Rh-negative women post-procedure
as per order to prevent antibody formation in the Rh-negative women.
Examines fetal chromosomes for genetic disorders. Direct examination of biochemical
specimens
37. Trisomy 21 P263: Trisomies are the product of the union of a normal gamete (egg or
sperm) with a gamete that contains an extra chromosome. The individual will have 47
chromosomes and be trisomic
(have three copies of the same chromosome) for whichever chromosome is extra.
Down syndrome is the most common trisomy abnormality seen in children. The
presence of the extra chromosome 21 produces distinctive clinical features

38. Maternal/Paternal Age While further research is needed, studies suggest that a
father's age at the time of conception (paternal age) might pose health risks for his
children.For example, studies have shown that the offspring of men over age 40 might
face an increased risk of: miscarriage, autism, birth defects, schizophrenia.
Researchers believe that the increased risk of health conditions might be due to agerelated genetic mutations in older men. Despite the increase in these risks, however, the
overall risks remain small and less certain than those associated with being born to a
woman over age 40.
39. Phenylketonuria (PKU) An inborn error of metabolism that affects the neonates
ability to metabolize phenylalanine, an amino acid commonly found in many foods such
as breast milk and formula. Lack of the enzyme needed to convert phenylalanine to
tyrosine. If untreated causes cognitive and physical problems.
It is inherited, autosomal recessive disorder.
40. Achondroplasia a hereditary condition in which the growth of long bones by
ossification of cartilage is retarded, resulting in very short limbs (congenital dwarfism)
and sometimes a face that is small in relation to the (normal-sized) skull.
It is inherited autosomal dominat disorder.
41. Marfans SyndromeMarfan syndrome is a genetic disorder that affects the bodys
connective tissue. Connective tissue holds all the bodys cells, organs and tissue

together. It also plays an important role in helping the body grow and develop properly.
Connective tissue is made up of proteins. The protein that plays a role in Marfan
syndrome is called fibrillin-1. Marfan syndrome is an autosomal dominant disorder of
connective tissue in which there may be serious cardiovascular involvementusually
dissection or rupture of the aorta. Because there may be a fivefold increase in morbidity
during pregnancy, a pregnant woman with Marfan syndrome needs very careful
cardiovascular assessment and counseling about her prognosis for pregnancy. Because
of its inheritance pattern, there is a 50% chance that the disease will be passed on to
offspring disorders.