49 Questions
When does conception typically happen after fertilization of the ovum?
About 12 hours after fertilization
In X-linked recessive inheritance, what does the genogram typically reveal about affected individuals in a family?
Mostly males have the disorder
Why is amniotic fluid important during pregnancy? Select all that apply.
Too little amniotic fluid is linked with placental problems
While talking with a pregnant woman who has undergone genetic testing, what does the nurse understand Down syndrome to be an example of?
Trisomy numeric abnormality
Which genetic advance would a nurse least likely include when discussing advances in genetics to students?
Genetic agents may be used in the future to replace drugs
After successful teaching about fetal development, what do students identify as providing a barrier to other sperm after fertilization?
Zona pellucida
What would a nurse most likely include when teaching a class on X-linked recessive disorders?
No male-to-male transmission occurs
If a pregnant woman's maternal serum alpha-fetoprotein (MSAFP) testing shows decreased levels, what might the nurse suspect?
Down syndrome
When is the sex of offspring determined?
Fertilization
What function does amniotic fluid serve according to the nurse?
This fluid acts as a cushion to help protect your baby from injury
What might a nurse be alert for the development of if a pregnant woman has oligohydramnios?
Placental insufficiency
How many chromosomes does the zygote formed by the union of the ovum and sperm consist of?
46
What would the nurse identify as normal upon assessing the umbilical cord of a newborn?
One vein
Which hormone produced by the placenta forms the basis for pregnancy tests?
Human chorionic gonadotropin (hCG)
Why does fetal circulation have a different pattern than maternal circulation?
Fetal circulation carries highly oxygenated blood to vital areas first
Which of the following is an example of an autosomal dominant inheritance disorder?
Huntington's disease
What is the appropriate next step upon an elevated alpha-fetoprotein screening test result?
Further, more definitive evaluations to conclude anything
What would be included when discussing the potential misuse of genetic discoveries?
Individual risk profiling and confidentiality
Which of the following are stages of fetal development?
Preembryonic
Which processes, if they occur during the formation of the placenta, would lead to a successful pregnancy? Select all that apply.
Implantation of the trophoblast occurs in the upper uterus.
Which characteristics about amniotic fluid would alert the prenatal nurse to further investigate? Select all that apply.
Polyhydramnios is noted on assessment.
A client's recent prenatal ultrasound assessment reveals a normal placenta. Which outcomes would the nurse expect? Select all that apply.
The placenta produces hormones that ready the fetus for extrauterine life
A prenatal nurse is conducting a class on healthy pregnancy and explains the role of placental hormones. Which statements would the nurse make? Select all that apply.
Progesterone stimulates maternal metabolism and breast development.
A client at a prenatal class requests information on how the gender of a baby is determined. Which statement made by the nurse would be most accurate?
Gender is determined at conception and depends on whether the ovum is fertilized by a Y-bearing or an X-bearing sperm.
A client who is six weeks' pregnant asks the prenatal nurse, 'What development has taken place with my baby by now?' Which information should the nurse include in the response? Select all that apply.
By week 6 the lungs begin forming and the baby circulation is established
At a prenatal class, the participants ask the nurse who would benefit from genetic counseling. Which responses by the nurse are correct? Select all that apply.
A woman whose husband is age 50 years or older.
In order for conception to take place, it is most common for a woman to get pregnant two weeks after her normal menstrual period.
False
A couple asks the nurse at a preconception class for information on becoming pregnant. Which response made by the nurse is correct?
The 200 million sperm in ejaculated semen are necessary for conception to take place.
At genetic counseling, what are the chances that a couple will have a child with Down syndrome?
Chromosomal abnormalities occur in about 1 in 150 live-born infants.
A client asks about a child inheriting an autosomal recessive disorder. What must occur for an offspring to demonstrate signs and symptoms of the disorder with this type of inheritance?
Both parents must be carriers.
The nurse is assessing a 12-hour-old newborn and hears a heart murmur. What initial action should the nurse take?
Document the finding as normal for age
Which of the following would the nurse integrate into the response about fetal development at 12 weeks of pregnancy? (Select all that apply)
Digestive system becoming active
What is essential for fetal lung development?
Amniotic fluid
Which of the following hormones are produced by the placenta? (Select all that apply)
Relaxin
What is the opening between the right and left atrium called in fetal circulation?
Foramen ovale
Which of the following are examples of an autosomal recessive disorder? (Select all that apply)
Tay-Sachs disease
What manifestations are expected in a child with Klinefelter's syndrome? (Select all that apply)
Long arms
What does fetal nuchal translucency testing involve?
You'll have an intravaginal ultrasound to measure fluid in the fetus.
What is the best statement describing the limits of genetic testing?
Some genetic tests can give a probability for developing a disorder.
What is most important for the nurse to do when counseling a couple about bearing a child with a genetic abnormality?
Present the information in a factual, nondirective manner.
Which response indicates the need for further teaching about X-linked disorders to a couple concerned about passing on hemophilia?
If the father doesn't have it, then his kids won't either.
What might the nurse suspect if a pregnant woman's estriol and alpha-fetoprotein levels are decreased with high hCG levels during a triple screen at 16 to 18 weeks?
Down syndrome
When is the sex of offspring determined?
At fertilization
What does amniotic fluid act as during pregnancy?
Cushion to protect the baby from injury
Which mother is in the fetal stage of development?
Thirty weeks pregnant
What results in zygote formation?
The nucleus of the ovum and sperm combine chromosomes
When is gender determined?
At fertilization when the ovum is fertilized
What happens when the ovum is fertilized by the sperm?
The zygote is transported into the uterine cavity
Which processes that occur after fertilization lead to a normal pregnancy? (Select all that apply)
The morula divides into specialized cells that will form fetal structures
Study Notes
Genetic Disorders
- Down syndrome is an example of a trisomy numeric abnormality, involving an extra copy of chromosome 21
- Multifactorial inheritance gives rise to disorders such as cleft lip, congenital heart disease, neural tube defects, and pyloric stenosis
- X-linked recessive inheritance is associated with disorders such as hemophilia
- Chromosomal deletion is involved with disorders such as cri du chat syndrome
Genetic Diagnosis and Testing
- Genetic diagnosis is now possible very early in pregnancy (second trimester)
- Genetic testing can identify presymptomatic conditions in children and adults
- Gene therapy can be used to replace or repair defective or missing genes with normal ones
- Genetic agents may replace drugs in the future, and gene surgery may replace general surgery
Fetal Development
- The zona pellucida is the clear protein layer that acts as a barrier to other sperm once one sperm enters the ovum for fertilization
- Fertilization occurs when the sperm penetrates the zona pellucida
- The morula is the result of four cleavages, leading to 16 cells that appear as a solid ball of cells
- Amniotic fluid protects the floating embryo and cushions the fetus from trauma
X-Linked Recessive Disorders
- No male-to-male transmission occurs in X-linked recessive disorders
- Any man who is affected will have carrier daughters
- If a woman is a carrier, there is a 50% chance that her sons will be affected and a 50% chance that her daughters will be carriers
Maternal Serum Alpha-Fetoprotein (MSAFP) Testing
- Decreased MSAFP levels may indicate Down syndrome or trisomy 18
- Increased MSAFP levels may indicate neural tube defects, omphalocele, gastroschisis, or hydrocephaly
Fetal Circulation
- Fetal circulation carries highly oxygenated blood to vital areas first
- The foramen ovale is the opening between the right and left atrium
- The ductus venosus connects the umbilical vein to the inferior vena cava
- The ductus arteriosus connects the main pulmonary artery to the aorta
Autosomal Dominant and Recessive Disorders
- Huntington's disease is an example of an autosomal dominant inheritance disorder
- Sickle cell disease, phenylketonuria, and cystic fibrosis are examples of autosomal recessive inheritance disorders
- Cystic fibrosis, phenylketonuria, and Tay-Sachs disease are examples of autosomal recessive disorders
- Polycystic kidney disease and achondroplasia are examples of autosomal dominant diseases### Reproductive Development
- Meiosis occurs during gametogenesis (formation of gametes: sperm and ova)
Fertilization
- Fertilization typically occurs 2 weeks after the last normal menstrual period
- 200 million sperm are present in ejaculated semen, but only one sperm fertilizes the ovum
- Zygote forms when the nucleus of the ovum and sperm make contact and combine chromosomes (resulting in 46 chromosomes)
Embryonic Development
- Morula divides into specialized cells that will form fetal structures
- Blastocyst forms within the morula, which will later form the embryo
- Morula reaches the uterine cavity about 72 hours after fertilization
Placenta Development
- Implantation of the trophoblast occurs in the upper uterus (fundus)
- Trophoblast produces human chorionic gonadotropin (hCG) as early as 3 days after conception
- Placenta develops from the trophoblast and helps to regulate fetal metabolism and remove waste products
Amniotic Fluid
- Amniotic fluid surrounds the embryo and increases in volume as the pregnancy progresses, reaching approximately 1 L at term
- Oligohydramnios (too little amniotic fluid) and polyhydramnios (too much amniotic fluid) are associated with various complications
- Amniotic fluid helps maintain the fetus's body temperature, cushions the fetus from trauma, and is ingested by the fetus (but not for nourishment)
Gender Determination
- Gender is determined at fertilization and depends on whether the ovum is fertilized by a Y-bearing or an X-bearing sperm
- XX zygote will become a female, and an XY zygote will become a male
Hormones and Pregnancy
- Human chorionic gonadotropin (hCG) is the basis for pregnancy tests
- Human placental lactogen participates in the development of maternal breasts for lactation
- Estrogen causes enlargement of a woman's breasts, uterus, and external genitalia, and stimulates myometrial contractility
- Progesterone maintains the endometrium, decreases the contractility of the uterus, and stimulates maternal metabolism and breast development
Genetic Counseling
- Women over 35 years old, couples where the paternal age is 50 years or older, and those who have been exposed to teratogens or have a pregnancy screening abnormality may benefit from genetic counseling
Identify the type of inheritance that results in Down syndrome. This quiz is for nursing students studying genetics and inheritance patterns.
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