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Sophomore 1 Test 1 > Fetal Development and Genetics > Flashcards

Fetal Development and Genetics Flashcards

1
Q

What is the starting point of pregnancy?

A

Conception - which is the union of ovum and sperm resulting in the formation of a zygote

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2
Q

Zygote

A

The first cell of the new individual

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3
Q

Embryoblast (blastocyst)

A

Forms the embryo and amnion; inner cell mass

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4
Q

Trophoblast

A

Forms the placenta and chorion; outer layer of cells

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5
Q

How and when does implantation occur?

A

Occurs between 7-10 days after conception when the trophoblast secretes enzymes to enable it to burrow into the endometrial lining of the uterus (which can cause spotting)

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6
Q

How long does pregnancy last?

A
  1. 10 lunar months
  2. 9 calendar months
  3. 40 weeks
  4. 280 days
    * Length is computed from date of LMP
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7
Q

Three Stages of Intrauterine Development

A
  1. Ovum or pre-embryonic stage (conception to day 14)
  2. Embryonic stage (day 15 to week 8)
  3. Fetal Stage (week 9 through delivery)
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8
Q

When does organogenesis begin?

A

During the embryonic stage

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9
Q

Chorion

A

Develops from the trophoblast and has the chorionic villi on its surface; becomes the covering of the fetal side of the placenta

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10
Q

Amnion

A

Develops from the interior cells of the blastocyst; becomes the covering of the umbilical cord and covers the chorion on the fetal side of the placenta

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11
Q

Functions of Amniotic Fluid

A
  1. Maintains fetal body temperature
  2. Source of oral fluid
  3. Repository for waste
  4. Cushions the fetus from trauma
  5. Allows freedom of movement for musculoskeletal development
  6. Allows cord to be free from compression
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12
Q

Oligohydramnios

A

Less than 500 mL of amniotic fluid; associated with fetal renal abnormalities

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13
Q

Hydramnios or polyhydramnios

A

More than 2 liters of amniotic fluid; associated with maternal diabetes and fetal GI malformations

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14
Q

Average umbilical cord dimensions

A

1 inch in diameter and 22 inches long

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15
Q

Wharton’s jelly

A

Connective tissue that prevents compression of the blood vessels and ensures continued nourishment of the embryo or fetus

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16
Q

Formation and growth of the placenta

A
  1. Begins to form at implantation
  2. Structure complete by week 12 but continues to grow wider until 20 weeks when it cover approximately half of the uterine surface then it grows thicker
  3. Develops from the trophoblast
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17
Q

Appearance of the placenta

A
  1. Mother’s side is dark red

2. Fetal side is shiny and gray

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18
Q

hCG

A

Hormone produced by the placenta

  1. hCG detected at 7-10 days
  2. Reaches maximum by 60-70 days, decreases for 10 days, then increases gradually until term
  3. It is the hormone that is detected in home pregnancy tests
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19
Q

How does the placenta act as the liver and lungs for the fetus?

A
  1. Diffuses O2 and CO2
  2. Wastes pass form the fetus to maternal blood supply for excretion through the placenta
  3. Fetal glucose concentration in lower than the mother’s due to rapid metabolism of the fetus
  4. Clears unconjugated bilirubin for the fetus
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20
Q

Functions of the Placenta

A
  1. Stimulates maternal metabolism to supply needed nutrients for fetal growth
  2. Increases resistance to insulin
  3. Facilitates glucose transport
  4. Stimulates breast development to prepare for lactation
  5. Produces progesterone to maintain the endometrium
  6. Decreases contractility of the uterus
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21
Q

What can accelerate lung maturity in the fetus?

A
  1. Maternal HTN
  2. Placental dysfunction
  3. Infection
  4. Corticosteroid use
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22
Q

What can retard lung maturity in the fetus?

A
  1. Gestational diabetes

2. Chronic glomerulonephritis

23
Q

The proper function of the placenta is dependent on what?

A

Maternal blood pressure

24
Q

Three Shunts in Fetal Circulation

A
  1. Ductus venosus
  2. Foramen ovale
  3. Ductus arteriosus
25
Q

Ductus venosus

A

Shunts from liver to inferior vena cava

26
Q

Foramen ovale

A

Bypasses right side of heart by opening right and left atrium; this decreases pulmonary blood flow

27
Q

Ductus arteriosus

A

Connects the aorta and pulmonary artery to allow majority of blood to bypass lungs (contains mixed blood)

28
Q

Who is prescribed Rhogam?

A

A Rh negative mother with a Rh positive fetus. The blood mixes during delivery and the mother will start producing antibodies to Rh positive. During the second pregnancy the mother’s immune system will attack the second (and all other pregnancies going forward) baby in utero. The Rhogam is given during the first pregnancy to prevent the mother from producing the Rh positive antibodies.

29
Q

Genome

A

An individual’s genetic blueprint

30
Q

Genotype

A

Gene pairs inherited from parents; specific genetic makeup of individual usually in form of DNA

31
Q

Phenotype

A

Observed outward characteristics of individual

32
Q

Allele

A

One of two or more alternative versions of gene at given position on a chromosome (one from each parent)

33
Q

Homozygous

A

Alleles are the same for the characteristic; can be dominant or recessive

34
Q

Heterozygous

A

Alleles are different for the characteristic; usually the dominant allele is expressed in the phenotype of the individual

35
Q

What is an autosomal dominant inheritance disorder? (definition)

A

Occurs when a single gene in the heterozygous state is capable of producing the phenotype

36
Q

What is an autosomal recessive inheritance disorder? (definition)

A

Occurs when 2 copies of the mutant or abnormal gene in the homozygous state are necessary to produce the phenotype

37
Q

What are X-Linked Inheritance Disorders?

A
  1. Males who inherit an x-linked altered gene will express the condition
  2. Females can be heterozygous or homozygous
  3. No male to male transmission. An affected male will have daughters who are carriers
38
Q

What are multifactoral inheritance disorders?

A

Caused by multiple gene (polygenic) and environmental factors
**Tend to run in families but pattern of inheritance is not as predictable as with monogenic disorders

39
Q

What is mosaicism?

A

Chromosomal abnormalities that happen after fertilization

40
Q

Major Congenital Anomalies

A
  1. Cleft lip/palate
  2. Congenital heart disease/defects
  3. Neural tube defects
  4. Brain anomalies
  5. Omphalocele
  6. Skin lesions
  7. Skeleton asymmetry
  8. Dysmorphism
41
Q

Minor Congenital Anomalies

A
  1. Widow’s peak
  2. Flat-bridged nose
  3. Cleft uvula
  4. Webbed neck
  5. Extra nipples
  6. Single umbilical artery
  7. Overlapping digits
  8. Syndactyly/polydactyly
  9. Increased space between toes
42
Q

What is Trisomy 21?

A

Down Syndrome; presence of all or part of an extra 21st chromosome

43
Q

Features of Trisomy 21

A
  1. Small, low set ears
  2. Hyperflexibility
  3. Muscle hypotonia
  4. Wide spaced eyes
  5. Simian crease - deep crease across palm
  6. Open mouth with protruding tongue
44
Q

Risk Screening for Trisomy 21

A
  1. Can be detected prenatally at 11-14 weeks by ultrasound, AFP (alpha-fetoprotein), amniocentesis, or chorionic villi sampling
  2. Confirmed after birth with chromosome analysis (gene testing)
45
Q

Diagnosis and Assessment Screening for Trisomy 21

A
  1. Echocardiogram
  2. Vision and hearing screening (by 6 months old)
  3. Thyroid hormone level (by 6 months, then anually)
  4. Ultrasound to assess for GI malformations
46
Q

Potential Health Problems for a patient with Trisomy 21

A
  1. Cardiac defects
  2. GI disorders (celiac disease, constipation, imperforate anus)
  3. Visual and hearing impairment
  4. Intestinal malformations
  5. Increased susceptibility to infections
  6. Thyroid disease
  7. Higher risk for obesity
47
Q

What is Trisomy 18?

A

Edward’s Syndrome

48
Q

What is Trisomy 13?

A

Patau Syndrome

49
Q

Why is newborn screening done?

A

Used to detect inborn errors of metabolism before symptoms develop

  1. Many due to a defect in an enzyme or transport protein
  2. Accumulation of damaging byproduct
  3. Often treated with dietary management
50
Q

Nursing Implications for newborn screening

A
  1. If the test comes back positive, additional tests are required to confirm diagnosis
  2. If taken in first 24 hours, must be repeated in 1-2 weeks
51
Q

Amniocentesis

A

Study of fetal cells in amniotic fluid that yields genetic and chromosomal information about the fetus; done between 15-20 weeks

52
Q

Chorionic Villi Sampling

A

Sample of chorionic villi is obtained by aspiration biopsy to evaluate fetus for genetic and chromosomal abnormalities

  1. Done between 10-12 weeks
  2. Before 10 weeks has been associated with limb defects
53
Q

L/S Ratio

A
  1. Lecithin/sphingomyelin (L/S) ratio is the study of amniotic fluid that determines fetal lung maturity
  2. Lecithin is the most critical alveolar surfactant required for postnatal lung expansion
  3. Detectable at approximately 21 weeks
  4. Increases in amount after week 24
  5. Sphingomyelin remains constant throughout pregnancy
  6. When the L/S ratio is 2:1, the lungs are considered mature (approximately 35 weeks)
54
Q

Nursing Interventions and Assessments of Fetal Growth

A
  1. Monitoring fetal HR
  2. Measuring fundal weight
  3. Assessing risk factors
  4. Recording kick counts (should be less than or equal to 3 kicks per hour)

Sophomore 1 Test 1 (5 decks)

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