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Questions and Answers
When does conception typically happen after fertilization of the ovum?
When does conception typically happen after fertilization of the ovum?
In X-linked recessive inheritance, what does the genogram typically reveal about affected individuals in a family?
In X-linked recessive inheritance, what does the genogram typically reveal about affected individuals in a family?
Why is amniotic fluid important during pregnancy? Select all that apply.
Why is amniotic fluid important during pregnancy? Select all that apply.
While talking with a pregnant woman who has undergone genetic testing, what does the nurse understand Down syndrome to be an example of?
While talking with a pregnant woman who has undergone genetic testing, what does the nurse understand Down syndrome to be an example of?
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Which genetic advance would a nurse least likely include when discussing advances in genetics to students?
Which genetic advance would a nurse least likely include when discussing advances in genetics to students?
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After successful teaching about fetal development, what do students identify as providing a barrier to other sperm after fertilization?
After successful teaching about fetal development, what do students identify as providing a barrier to other sperm after fertilization?
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What would a nurse most likely include when teaching a class on X-linked recessive disorders?
What would a nurse most likely include when teaching a class on X-linked recessive disorders?
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If a pregnant woman's maternal serum alpha-fetoprotein (MSAFP) testing shows decreased levels, what might the nurse suspect?
If a pregnant woman's maternal serum alpha-fetoprotein (MSAFP) testing shows decreased levels, what might the nurse suspect?
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When is the sex of offspring determined?
When is the sex of offspring determined?
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What function does amniotic fluid serve according to the nurse?
What function does amniotic fluid serve according to the nurse?
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What might a nurse be alert for the development of if a pregnant woman has oligohydramnios?
What might a nurse be alert for the development of if a pregnant woman has oligohydramnios?
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How many chromosomes does the zygote formed by the union of the ovum and sperm consist of?
How many chromosomes does the zygote formed by the union of the ovum and sperm consist of?
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What would the nurse identify as normal upon assessing the umbilical cord of a newborn?
What would the nurse identify as normal upon assessing the umbilical cord of a newborn?
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Which hormone produced by the placenta forms the basis for pregnancy tests?
Which hormone produced by the placenta forms the basis for pregnancy tests?
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Why does fetal circulation have a different pattern than maternal circulation?
Why does fetal circulation have a different pattern than maternal circulation?
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Which of the following is an example of an autosomal dominant inheritance disorder?
Which of the following is an example of an autosomal dominant inheritance disorder?
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What is the appropriate next step upon an elevated alpha-fetoprotein screening test result?
What is the appropriate next step upon an elevated alpha-fetoprotein screening test result?
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What would be included when discussing the potential misuse of genetic discoveries?
What would be included when discussing the potential misuse of genetic discoveries?
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Which of the following are stages of fetal development?
Which of the following are stages of fetal development?
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Which processes, if they occur during the formation of the placenta, would lead to a successful pregnancy? Select all that apply.
Which processes, if they occur during the formation of the placenta, would lead to a successful pregnancy? Select all that apply.
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Which characteristics about amniotic fluid would alert the prenatal nurse to further investigate? Select all that apply.
Which characteristics about amniotic fluid would alert the prenatal nurse to further investigate? Select all that apply.
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A client's recent prenatal ultrasound assessment reveals a normal placenta. Which outcomes would the nurse expect? Select all that apply.
A client's recent prenatal ultrasound assessment reveals a normal placenta. Which outcomes would the nurse expect? Select all that apply.
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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.
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.
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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?
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?
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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.
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.
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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.
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.
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In order for conception to take place, it is most common for a woman to get pregnant two weeks after her normal menstrual period.
In order for conception to take place, it is most common for a woman to get pregnant two weeks after her normal menstrual period.
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A couple asks the nurse at a preconception class for information on becoming pregnant. Which response made by the nurse is correct?
A couple asks the nurse at a preconception class for information on becoming pregnant. Which response made by the nurse is correct?
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At genetic counseling, what are the chances that a couple will have a child with Down syndrome?
At genetic counseling, what are the chances that a couple will have a child with Down syndrome?
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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?
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?
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The nurse is assessing a 12-hour-old newborn and hears a heart murmur. What initial action should the nurse take?
The nurse is assessing a 12-hour-old newborn and hears a heart murmur. What initial action should the nurse take?
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Which of the following would the nurse integrate into the response about fetal development at 12 weeks of pregnancy? (Select all that apply)
Which of the following would the nurse integrate into the response about fetal development at 12 weeks of pregnancy? (Select all that apply)
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What is essential for fetal lung development?
What is essential for fetal lung development?
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Which of the following hormones are produced by the placenta? (Select all that apply)
Which of the following hormones are produced by the placenta? (Select all that apply)
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What is the opening between the right and left atrium called in fetal circulation?
What is the opening between the right and left atrium called in fetal circulation?
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Which of the following are examples of an autosomal recessive disorder? (Select all that apply)
Which of the following are examples of an autosomal recessive disorder? (Select all that apply)
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What manifestations are expected in a child with Klinefelter's syndrome? (Select all that apply)
What manifestations are expected in a child with Klinefelter's syndrome? (Select all that apply)
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What does fetal nuchal translucency testing involve?
What does fetal nuchal translucency testing involve?
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What is the best statement describing the limits of genetic testing?
What is the best statement describing the limits of genetic testing?
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What is most important for the nurse to do when counseling a couple about bearing a child with a genetic abnormality?
What is most important for the nurse to do when counseling a couple about bearing a child with a genetic abnormality?
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Which response indicates the need for further teaching about X-linked disorders to a couple concerned about passing on hemophilia?
Which response indicates the need for further teaching about X-linked disorders to a couple concerned about passing on hemophilia?
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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?
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?
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When is the sex of offspring determined?
When is the sex of offspring determined?
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What does amniotic fluid act as during pregnancy?
What does amniotic fluid act as during pregnancy?
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Which mother is in the fetal stage of development?
Which mother is in the fetal stage of development?
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What results in zygote formation?
What results in zygote formation?
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When is gender determined?
When is gender determined?
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What happens when the ovum is fertilized by the sperm?
What happens when the ovum is fertilized by the sperm?
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Which processes that occur after fertilization lead to a normal pregnancy? (Select all that apply)
Which processes that occur after fertilization lead to a normal pregnancy? (Select all that apply)
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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
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Description
Identify the type of inheritance that results in Down syndrome. This quiz is for nursing students studying genetics and inheritance patterns.
