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Rapid Review Pathology > Chapter 6 - Genetic and Developmental Disorders > Flashcards

Chapter 6 - Genetic and Developmental Disorders Flashcards

0
Q

Mutations involving germ cells can be transmitted to whom?

A

Mutation germ cell: transmitted to offspring

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1
Q

What is a mutation?

A

Mutation: permanent change in DNA

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2
Q

Mutations involving somatic cells are not transmitted to whom?

A

Mutation somatic cell: not transmitted to offspring

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3
Q

What is a point mutation?

A

Point mutation: change in single nucleotide base within a gene

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4
Q

What is a silent mutation?

A

Silent: altered DNA codes for same amino acid; no phenotypic effect

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5
Q

What is a missense mutation?

A

Missense: altered DNA codes for different amino acid; change in phenotypic effect

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6
Q

Give an example of a missense mutation.

A

Missense mutation: sickle cell disease/trait

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7
Q

What is a nonsense mutation?

A

Nonsense: stop codon; premature termination protein synthesis

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8
Q

Give an example of a nonsense mutation.

A

β-Thalassemia major: nonsense mutation; no synthesis β-globin chain

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9
Q

What is a frameshift mutation?

A

Frameshift: insertion/deletion 1 or more nucleotides that is not a multiple of 3

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10
Q

Describe the type of mutation in Tay-Sachs disease.

A

Tay-Sachs: 4 base insertion; ↓synthesis hexosaminidase A

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11
Q

Describe an insertion/deletion mutation that is not a frameshift mutation.

A

Number base pairs deleted/added multiple of 3, translated protein gained/lost amino acids

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12
Q

Give an example of an insertion/deletion mutation that is not a frameshift mutation.

A

CF: 3-nucleotide deletion; phenylalanine lost from CFTR; degraded in Golgi

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13
Q

What do trinucleotide repeat disorders produce?

A

TRD: produce DNA replication errors

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14
Q

What are trinucleotide repeats?

A

Trinucleotide repeats: amplified sequence of 3 nucleotides; prevent normal gene expression

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15
Q

Give four examples of TRDs and their triplet repeats.

A

FXS (CGG), myotonic dystrophy (CTG), Friedrich ataxia (GAA), HD (CAG)

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16
Q

Give an example of expansion of trinucleotide repeats primarily in oogenesis and an example of expansion of trinucleotide repeats primarily in spermatogenesis.

A

Amplification in oogenesis (FXS), spermatogenesis (HD)

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17
Q

What determines disease severity in TRDs?

A

Number triplet repeats determines disease severity

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18
Q

Give three examples of amplification in the noncoding region of the gene. What do these diseases have in common?

A

Amplification noncoding region: FXS, myotonic dystrophy, Friedrich ataxia; multisystem diseases

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19
Q

What is anticipation?

A

Anticipation: ↑disease severity future generations; ↑amplification of repeats in gametogenesis

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20
Q

What does CAG code for and what do CAG repeats produce?

A

CAG: codes for glutamine residues; produces polyglutamine disorders (neurodegenerative)

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21
Q

Give two examples of coding region amplification.

A

CAG: codes for glutamine residues; produces polyglutamine disorders (neurodegenerative)

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22
Q

What do misfolded protein aggregates with excess glutamine residues do?

A

Misfolded protein aggregates → suppress transcription, mt dysfunction, apoptosis

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23
Q

What are Mendelian disorders?

A

Single-gene mutations that produce large effects

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24
Q

What is the proportion of familial and new mutations in Mendelian disorders?

A

Majority are familial; remainder new mutations

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25
Q

When is the dominant phenotype expressed?

A

Dominant phenotype: expressed when only one chromosome of a pair carries mutant allele

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26
Q

When is the recessive phenotype expressed?

A

Recessive phenotype: expressed when both chromosomes of a pair carry mutant alleles

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27
Q

What are the possible locations for a mutation in Mendelian disorders?

A

Mutation locations: autosomes (1 to 22), sex chromosomes (X and Y)

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28
Q

What are the patterns of mutations in Mendelian disorders?

A

Patterns: autosomal recessive/dominant; X-linked recessive/dominant

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29
Q

What is the most common Mendelian disorder?

A

AR: MC mendelian disorder

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30
Q

Describe the offspring of two Aa parents.

A

Aa × Aa: 25% AA (normal), 25% (homozygous; aa), 50% heterozygous (Aa)

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31
Q

Describe the characteristics of AR disorders.

A

Characteristics: complete penetrance; Aa asymptomatic; early age; new mutations uncommon

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32
Q

What do most AR disorders involve?

A

Most AR disorders involve enzyme deficiencies

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33
Q

In enzyme deficiency, how are substrates proximal and distal to the enzyme block affected?

A

↑Substrate proximal to enzyme block; ↓substrate distal to block

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34
Q

What enzyme is affected in PKU and what substrates are affected?

A

Phenylketonuria (PKU): deficiency phenylalanine hydroxylase; ↑phenylalanine, ↓tyrosine

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35
Q

What occurs in LSDs?

A

LSD: undigested substrates (GAGS, sphingolipids, glycogen) accumulate in lysosomes

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36
Q

How is glycogen metabolism affected in the glycogenoses?

A

Glycogenoses: ↑synthesis, ↓glycogenolysis, ↑normal/abnormal glycogen in tissue

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37
Q

What are the clinical and lab findings in the glycogenoses?

A

Glycogenoses: organ dysfunction, fasting hypoglycemia, myoglobinuria (McArdle disease)

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38
Q

What is the most common AR disorder?

A

MC AR disorder: hemochromatosis

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39
Q

Who expresses the disorder in autosomal dominant disorders?

A

Heterozygotes (Aa) express the disorder

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40
Q

Who are spontaneously aborted in AD disorders?

A

Germline homozygotes (AA) are spontaneously aborted

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41
Q

Describe the offspring of Aa and aa parents.

A

Aa × aa → Aa, Aa, aa, aa; 50% have disorder (Aa); 50% normal (aa)

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42
Q

How are most new mutations inherited?

A

New mutations: paternally inherited

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43
Q

What is meant by delayed manifestations?

A

Delayed manifestations: symptoms/signs occur later in life

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44
Q

What is complete penetrance?

A

Complete penetrance: all individuals with mutation express disease

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45
Q

What is incomplete penetrance?

A

Incomplete penetrance: phenotypically normal; transmit disease to children

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46
Q

What is variable expressivity?

A

Variable expressivity: express disease but severity varies

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47
Q

What is the most common AD disorder?

A

MC AD disorder: von Willebrand disease

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48
Q

Where is the mutant gene located in males with XR disorder?

A

Males with XR disorder: mutant gene on X chromosome

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49
Q

Y chromosome disorders are more likely to involve what?

A

Y chromosome disorders involve defects in spermatogenesis

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50
Q

All X chromosomes in males are what?

A

All X chromosomes in males are active

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51
Q

Describe the offspring of X*Y and XX parents.

A

XY × XX → XX, X*X, XY, XY; all daughters asymptomatic carriers; no transmission to sons

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52
Q

Why are X*X heterozygous carriers not symptomatic?

A

X*X heterozygous carriers not symptomatic because they have a paired normal allele (X)

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53
Q

Describe the offspring of X*X and XY parents.

A

XX × XY → XX, XX, X*Y, XY; 50% sons symptomatic; 50% daughters asymptomatic carriers

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54
Q

XR diseases usually involve what?

A

XR diseases usually involve enzyme deficiencies

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55
Q

What is the most common Mendelian disorder causing mental retardation?

A

FXS: MC mendelian disorder causing mental retardation

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56
Q

Where is the genetic defect located in FXS?

A

Genetic defect distal end of long arm of X chromosome (band Xq27.3)

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57
Q

What gene is located at the fragile X site?

A

FMR1 gene located at fragile X site

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58
Q

Describe the clinical findings in females with the full mutation in FXS.

A

Females with full mutation: normal or mild ↓IQ with or without premature ovarian failure

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59
Q

Describe the degree of mental retardation in affected males with FXS

A

FXS: mental retardation (IQ 20–70)

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60
Q

Describe the facial changes in FXS.

A

FXS: long face, large mandible, everted ears, high-arched palate

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61
Q

Describe pubertal findings in FXS.

A

FXS: macro-orchidism at puberty

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62
Q

How is FXS diagnosed?

A

FXS: DNA analysis for trinucleotide repeats is best

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63
Q

What is Lesch-Nyhan syndrome?

A

Lesch-Nyhan syndrome: deficiency HGPRT; involved in salvaging purines

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64
Q

What are the clinical findings in Lesch-Nyhan syndrome?

A

Mental retardation, hyperuricemia, self-mutilation

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65
Q

Who is symptomatic in XD disorders?

A

XD inheritance: female carriers are symptomatic

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66
Q

What is vitamin D-resistant rickets?

A

Vitamin D–resistant rickets: defect in renal/gastrointestinal reabsorption of phosphate

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67
Q

How many human chromosomes are there?

A

46 chromosomes: 22 pairs of autosomes and 1 pair of sex chromosomes

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68
Q

What are gametes?

A

Gametes: products of meiosis; haploid (23 chromosomes)

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69
Q

What is a Barr body?

A

Barr body: inactivated X chromosome

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70
Q

What is the number of Barr bodies per cell?

A

Number of Barr bodies = number of X chromosomes − 1

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71
Q

What is nondisjunction?

A

Nondisjunction: unequal separation of chromosomes in meiosis

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72
Q

What is mosaicism?

A

Mosaicism: nondisjunction in mitosis; most often involves sex chromosomes

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73
Q

What is a translocation?

A

Translocation: transfer chromosome parts between nonhomologous chromosomes

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74
Q

What is a Robertsonian translocation? Give an example.

A

Robertsonian translocation: balanced translocation between acrocentric chromosomes; 14;21

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75
Q

What is a deletion?

A

Deletion: loss of portion of chromosome

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76
Q

What is cri du chat syndrome?

A

Cri du chat: short arm of chromosome 5 deleted; mental retardation, cat-like cry, VSD

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77
Q

Most cases of Down syndrome are due to what?

A

Most cases are due to nondisjunction

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78
Q

What does advanced maternal age increase the risk of?

A

Advanced maternal age: ↑risk for offspring with trisomy syndromes

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79
Q

What is the most common chromosomal abnormality causing mental retardation?

A

MC chromosomal abnormality causing mental retardation

Down syndrome

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80
Q

What is the most common cause of floppy baby syndrome?

A

MCC floppy baby syndrome

Down syndrome

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81
Q

Describe clinical findings in Down syndrome.

A

Muscle hypotonia, simian crease, flat facial profile

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82
Q

What is a major factor affecting survival in early childhood in Down syndrome?

A

Congenital heart defects: major factor affecting survival in early childhood

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83
Q

What is the most common heart defect in Down syndrome?

A

Endocardial cushion defect MC heart defect

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84
Q

What are the GI tract abnormalities in Down syndrome?

A

Gastrointestinal: duodenal atresia, Hirschsprung, tracheoesophageal fistula

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85
Q

What are the hematologic abnormalities in Down syndrome?

A

↑Risk for leukemia: acute lymphoblastic/acute megakaryocytic

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86
Q

Describe CNS abnormalities in Down syndrome.

A

Down syndrome: Alzheimer disease at young age

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87
Q

Describe immune defects in Down syndrome.

A

Immune defects: Hashimoto thyroiditis, diabetes mellitus, lung infections

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88
Q

Describe fertility abnormalities in Down syndrome.

A

Males usually infertile; females less fertile and have ↑incidence miscarriages

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89
Q

How is Down syndrome screened for?

A

Triple marker screen: ↓serum AFP, urine uE3; ↑serum hCG

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90
Q

What is Edward syndrome?

A

Edwards syndrome: trisomy 18

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91
Q

What are the clinical findings in Edward syndrome?

A

Mental retardation, clenched fist/overlapping fingers, VSD

92
Q

What is Patau syndrome?

A

Patau syndrome: trisomy 13

93
Q

What are the clinical findings in Patau syndrome?

A

Mental retardation, cleft lip/palate, polydactyly, VSD, cystic kidneys

94
Q

What is the most common sex chromosome abnormality in females?

A

MC sex chromosome abnormality in females

Turner syndrome

95
Q

Turner syndrome accounts for what percentage of spontaneous abortions?

A

Accounts for 15% of spontaneous abortions

96
Q

What are the karyotype abnormalities in Turner syndrome?

A

Karyotype abnormalities: 45,X; structural abnormalities; mosaicism (45,X/46,XX)

97
Q

The 45,X/46,XY karyotype increases the risk for what?

A

45,X/46,XY ↑risk for gonadoblastoma of ovary

98
Q

What is the most common cause of Turner syndrome?

A

Mosaicism MCC Turner syndrome

99
Q

What is a cardinal sign in Turner syndrome? This sign is due to what?

A

Short stature cardinal sign; loss of SHOX gene

100
Q

The SHOX gene is critical for what?

A

SHOX gene critical for growth regulation

101
Q

What are the clinical findings in Turner syndrome?

A

Shield chest, short 4th metacarpal/metatarsal, pubic hair development normal
Lymphedema hands, feet, neck (webbed neck)

102
Q

What is the most common cause of mortality in infancy in Turner syndrome?

A

Hypoplastic left heart most common cause mortality in infancy

103
Q

What are two cardiovascular abnormalities in Turner syndrome?

A

Preductal coarctation, bicuspid aortic valve common

104
Q

What are streak gonads?

A

Streak gonads: devoid of oocytes, risk for dysgerminoma

Turner syndrome

105
Q

The phrase “menopause before menarche” refers to what syndrome?

A

Turner syndrome: “menopause before menarche”

106
Q

What is the most common genetic cause of primary amenorrhea? How are estradiol, progesterone, FSH, and LH affected?

A

MC genetic cause primary amenorrhea; ↓estradiol/progesterone; ↑FSH/LH, respectively

107
Q

No Barr bodies are present in the buccal smear of patients with what karyotype?

A

No Barr bodies in buccal smear

45X,O

108
Q

What is the most common genetic cause of male hypogonadism?

A

MC genetic cause male hypogonadism

Klinefelter syndrome

109
Q

What is the most common cause of Klinefelter syndrome?

A

Nondisjunction produces 47 chromosomes (XXY)

110
Q

What is the most common karyotype of Klinefelter syndrome caused by mosaicism?

A

Mosaicism: MC karyotype 46,XY/47,XXY

111
Q

Describe the effect of increased FSH in Klinefelter syndrome.

A

↑FSH → ↑aromatase synthesis → ↑conversion testosterone to estradiol in Leydig cells

112
Q

Why are Leydig cells prominent in Klinefelter syndrome?

A

Testicular atrophy; fibrosis seminiferous tubules/Sertoli cells; Leydig cells prominent

113
Q

How are testosterone, inhibin, LH, and FSH affected in Klinefelter syndrome?

A

↓Testosterone and inhibin; ↑LH and FSH, respectively

114
Q

Describe the genes carried by the X chromosome.

A

X chromosome genes: androgen receptors, testis function, brain development, growth

115
Q

What does the androgen receptor contain?

A

Androgen receptor contains CAG trinucleotide repeats

116
Q

Testosterone reacts best with androgen receptors containing what?

A

Testosterone reacts best with androgen receptors containing least # CAG repeats

117
Q

Which androgen receptors are inactivated in Klinefelter syndrome?

A

Klinefelter syndrome: androgen receptors with least # CAG repeats preferentially inactivated

118
Q

What begins at puberty in Klinefelter syndrome?

A

Male hypogonadism + feminization begins at puberty

119
Q

List two feminization signs in Klinefelter syndrome.

A

Feminization signs: female body hair distribution, persistent gynecomastia

120
Q

Describe Eunuchoid proportions in Klinefelter syndrome.

A

Eunuchoid proportions: disproportionately long legs

121
Q

How is intelligence affected in Klinefelter syndrome variants with >2 X chromosomes?

A

Variants with >2 X chromosomes have mental retardation

122
Q

What are the cardiac and endocrine abnormalities in Klinefelter syndrome?

A

MVP, type 2 DM, metabolic syndrome

123
Q

What is the cause of XYY syndrome? What are the clinical findings?

A

XYY syndrome: paternal nondisjunction; aggressive behavior, normal gonadal function

124
Q

Inheritance in multifactorial (complex) inheritance is due to what?

A

Multifactorial (complex) inheritance: interaction of genetic and environmental factors

125
Q

Multifactorial inheritance is more common than what?

A

More common than mendelian and chromosomal disorders

126
Q

Give four examples of multifactorial inheritance.

A

Neural tube defects, mental disease, cleft lip/palate, coronary artery disease

127
Q

What does mtDNA code for?

A

mtDNA codes for enzymes in oxidative phosphorylation

128
Q

How is mtDNA inherited?

A

Maternal inheritance; ova have mutant gene

129
Q

What is genomic imprinting?

A

Expression of disease phenotype depends on whether mutant allele is inherited from father or mother

130
Q

Describe genomic imprinting of chromosome 15 in normal maternal gametogenesis.

A

Normal maternal gametogenesis: PW gene imprinted, Angelman gene activated

131
Q

Describe genomic imprinting of chromosome 15 in normal paternal gametogenesis.

A

Normal paternal gametogenesis: PW gene activated, Angelman gene imprinted

132
Q

Describe the cause of PW syndrome.

A

PW syndrome: microdeletion paternal 15; complete loss PW genes expression

133
Q

Describe the cause of Angelman syndrome.

A

Angelman syndrome: microdeletion maternal 15; complete loss Angelman gene expression

134
Q

What are the clinical findings of PW syndrome?

A

Hypotonia, genital hypoplasia, mental retardation, obesity

135
Q

What are the clinical findings of Angelman syndrome?

A

Mental retardation, wide-based gait, inappropriate laughter (happy puppet)

136
Q

What determines the male sex?

A

Y chromosome: single Y gene determines male sex

137
Q

What is the Y chromosome sex determining gene?

A

SRY gene on Y chromosome sex-determining gene

138
Q

What does the SRY gene produce?

A

SRY gene produces testis-determining factor → undifferentiated gonad becomes a testis

139
Q

What does the MIS do?

A

MIS causes paramesonephric duct to undergo apoptosis

140
Q

What is the function of fetal testosterone?

A

Testosterone develops mesonephric duct structures → epididymis, seminal vesicles, vas deferens

141
Q

What does 5α-Reductase do?

A

5α-Reductase converts testosterone to DHT

142
Q

What are the functions of fetal DHT?

A

DHT develops scrotum, penis, prostate gland

143
Q

What results from the absence of the Y chromosome?

A

Absence Y chromosome: undifferentiated gonads develop into ovaries

144
Q

What develops from the paramesonephric ducts?

A

Paramesonephric ducts: fallopian tubes, uterus, upper vagina

145
Q

What does the sinus tubercle fuse with? This fused structure then develops into what?

A

Sinus tubercle fuses with urogenital sinus → sinovaginal bulbs → vaginal plate → vagina

146
Q

What is a true hermaphrodite?

A

True hermaphrodite: testis on one side, ovary on other side

147
Q

What is a pseudohermaphrodite?

A

Pseudohermaphrodite: phenotype and genotype do not match

148
Q

What is a male pseudohermaphrodite?

A

Male pseudohermaphrodite: genotype XY; phenotype ambiguous or completely female

149
Q

What is the most common cause of male pseudohermaphroditism?

A

AIS MCC male pseudohermaphroditism

150
Q

What is a female pseudohermaphrodite?

A

Female pseudohermaphrodite: genotypically female; phenotypically ambiguous or virilized

151
Q

What is the most common cause of female pseudohermaphroditism?

A

Adrenogenital syndrome: MCC female pseudohermaphroditism

152
Q

Describe the epidemiology of AIS.

A

XR disorder; male pseudohermaphroditism

153
Q

What mutation causes AIS?

A

Loss-of-function mutation in androgen receptor gene on X chromosome

154
Q

The mutation in AIS results in what?

A

Prenatal undervirilization of external genitalia; loss of pubertal male changes

155
Q

Where are the gonads located at birth in AIS?

A

Testicles in inguinal canal at birth or abdominal cavity

156
Q

How are the paramesonephric duct structures affected in AIS?

A

Absence of fallopian tubes, uterus, cervix, upper vagina; MIS is functional

157
Q

How are the mesonephric duct structures affected in AIS?

A

Absence of epididymis, seminal vesicles, vas deferens, prostate; no fetal testosterone effect

158
Q

How do the external genitalia appear in AIS?

A

Female external genitalia, blind vaginal pouch; no fetal DHT effect

159
Q

How do AIS patients present as teenagers?

A

Present with primary amenorrhea as teenager

160
Q

What is there risk for in AIS?

A

Testes at risk for gonadoblastoma

161
Q

What are the lab findings in AIS?

A

Normal testosterone/DHT; slight ↑serum LH, estradiol

162
Q

How are the majority of AIS individuals reared?

A

Majority reared female

163
Q

Define congenital.

A

Congenital: defect recognized only at birth

164
Q

What is the most common cause of death in children < 1 year old?

A

Congenital anomalies: MCC death children <1 year old

165
Q

What are the major causes of congenital anomalies?

A

Major causes—genetic, maternal, multifactorial

166
Q

What is the most common genetic cause of congenital anomalies?

A

Chromosome aberrations MC genetic cause of congenital anomalies

167
Q

How does maternal diabetes affect the fetus?

A

Maternal diabetes: macrosomia; hyperinsulinemia ↑muscle mass and fat

168
Q

How may maternal SLE affect the newborn?

A

Maternal SLE: congenital heart block due to anti-Ro antibodies

169
Q

How may maternal hypothyroidism affect the newborn?

A

Maternal hypothyroidism: danger of cretinism in newborn; severe mental retardation

170
Q

What is the most common teratogen and what does it cause?

A

Alcohol: MC teratogen (fetal alcohol syndrome)

171
Q

What is TORCH syndrome?

A

TORCH syndrome = toxoplasmosis, other agents, rubella, cytomegalovirus, herpes simplex virus

172
Q

What does an increase in cord blood IgM indicate?

A

↑Cord blood IgM indicates congenital infection

173
Q

What is the most common congenital infection?

A

CMV MC congenital infection

174
Q

What are the routes of transmission in vertical transmission?

A

Vertical transmission: transplacental (MC), birth canal, breast-feeding

175
Q

What is the most common cause of congenital anomalies?

A

Multifactorial inheritance disorders overall MCC congenital anomalies

176
Q

What are malformations?

A

Malformations: disturbance in morphogenesis in embryonic period

177
Q

What is the most susceptible period for malformations?

A

4th to 5th week most susceptible period for malformations

178
Q

What are the germ cell layers?

A

Germ cell layers: ectoderm, endoderm, mesoderm

179
Q

What are deformations?

A

Deformations: extrinsic disturbance in fetal development after fetal organs developed

180
Q

Deformations are most often due to what?

A

Most often due to uterine constraint; maternal/placental factors

181
Q

What is disruption?

A

Disruption: destruction of irreplaceable normal fetal tissue

182
Q

An amniotic band is due to what?

A

Amniotic band: rupture of amnion; encircling fibrous bands constrict fetal parts (e.g., digits)

183
Q

What is agenesis?

A

Agenesis: complete absence of organ; absence of primordial tissue

184
Q

What is aplasia?

A

Aplasia: primordial tissue present but no development into an organ

185
Q

What is hypoplasia?

A

Hypoplasia: incomplete development primordial tissue; tissue histologically normal

186
Q

What is atresia?

A

Atresia: incomplete formation of lumen

187
Q

What is important in the pathogenesis of congenital anomalies?

A

Congenital anomalies: timing of teratogenic insult important

188
Q

How does retinoic acid result in congenital anomalies?

A

Retinoic acid: disrupts Hox gene function; craniofacial, CNS, cardiovascular defects

189
Q

What are the Hox genes involved in?

A

Hox genes: involved in patterning of craniofacial structures, vertebrae, limbs

190
Q

What is stillbirth?

A

Stillbirth: birth of a dead child

191
Q

What is the most common cause of stillbirth?

A

Abruptio placentae MCC stillbirth

192
Q

What is a spontaneous abortion?

A

Spontaneous abortion: termination of pregnancy before 20 weeks

193
Q

What is the most common complication of early pregnancy?

A

MC complication early pregnancy

Spontaneous abortion

194
Q

Spontaneous abortion is most commonly caused by what?

A

Spontaneous abortion: most commonly caused by trisomy 16

195
Q

What is SIDS?

A

SIDS: sudden, unexpected death of healthy infant <1 year old

196
Q

What is the most common cause of infant death in the U.S.?

A

In U.S, MCC infant death between 1 month and 1 year of age

SIDS

197
Q

In SIDS, when do the majority of deaths occur?

A

Majority of deaths before age 6 months

198
Q

Describe the pathogenesis of SIDS.

A

Multifactorial; maternal/infant risk factors

199
Q

What is the most common finding at autopsy in SIDS?

A

Petechiae MC finding at autopsy; sign of tissue hypoxia

200
Q

What are brainstem and cerebellum findings at autopsy in SIDS?

A

Brainstem (hypoplasia arcuate nucleus; astrogliosis); cerebellum (astrogliosis)

201
Q

Which group based on weight and gestational age has the highest mortality rate?

A

SGA: group with highest mortality rate

202
Q

LGA is most often due to what?

A

LGA: most often due to maternal DM

203
Q

Define prematurity.

A

Prematurity: gestation age <2500 g

204
Q

What is the most common cause of neonatal death and morbidity?

A

Prematurity MCC neonatal death/morbidity

205
Q

What is the most common cause of prematurity?

A

Premature rupture of membranes MCC prematurity

206
Q

What is chorioamnionitis?

A

Chorioamnionitis: inflammation of placental membranes

207
Q

What is funisitis?

A

Funisitis: inflammation of umbilical cord

208
Q

What are the complications of prematurity?

A

Complications: RDS, necrotizing enterocolitis, intraventricular hemorrhage

209
Q

What is most often responsible for IUGR?

A

IUGR: maternal factors most often responsible

210
Q

Describe the nature of growth retardation if a fetal cause is responsible for IUGR.

A

Fetal causes IUGR: symmetrical growth retardation

211
Q

Describe the nature of growth retardation if a placental cause is responsible for IUGR.

A

Placental causes IUGR: asymmetric growth retardation; brain spared

212
Q

What do the majority of IUGR infants have?

A

IUGR: majority have oligohydramnios

213
Q

When is the neonatal period?

A

Neonatal period: first 4 weeks of life

214
Q

What are the common causes of death in the neonatal period?

A

Neonatal period: common causes of death are RDS/congenital anomalies

215
Q

Amniocentesis is used to do what?

A

Identifies prenatal genetic defects

216
Q

Describe the composition of amniotic fluid.

A

AF is primarily fetal urine; contains fetal cells

217
Q

Where can AFP be measured?

A

AFP measured in AF and maternal serum

218
Q

What is chorionic villus sampling used for?

A

Chorionic villus sampling detects fetal abnormalities earlier than amniocentesis

219
Q

Ultrasound is important for what in pregnancy?

A

US: assessment fetal age/sex/viability, multiple pregnancies, fetal morphologic abnormalities

220
Q

How is the AFP level affected in open neural tube defects? What is it related to?

A

Open neural tube defect: folic acid deficiency before conception; ↑AFP

221
Q

How is the AFP level affected in Down syndrome?

A

Down syndrome: ↓AFP

222
Q

How is the serum hCG level affected in Down syndrome?

A

Down syndrome: ↑serum hCG

223
Q

How is the urine unconjugated estriol level affected in Down syndrome?

A

Down syndrome: ↓urine unconjugated estradiol

224
Q

How is genetic analysis performed?

A

Genetic analysis: chromosome karyotyping, DNA molecular assays

225
Q

What are the Stochastic theories?

A

Stochastic theories: somatic mutation, DNA repair defects, cross-linking defects, FR injury

226
Q

What does the programmed cell death theory propose?

A

Programmed cell death theory: aging genetically determined

227
Q

Give two examples of age-dependent changes.

A

Age-dependent: inevitable with age; e.g., ↓GFR, prostate hyperplasia

228
Q

Define age-related changes. Give two examples.

A

Age-related: common but not inevitable; e.g., Alzheimer disease, systolic hypertension

Rapid Review Pathology (14 decks)

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