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MIDS 187 > Ch 16 Patterns of Anomalies > Flashcards

Ch 16 Patterns of Anomalies Flashcards

1
Q

What is a syndrome?

A

Pattern of multiple anomalies related to a single causative factor/pathology

(ex. a trisomy)

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2
Q

What is an association?

A

-Pattern of multiple anomalies seen in numerous individuals that is NOT related to a single factor/pathology
-NOT part of a sequence or syndrome

(ex. finding 1 malformation leads to searching for others associated with it)

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3
Q

What is a sequence?

A

Pattern of multiple anomalies that results from an initial single anomaly

(a sequence may be the result of a malformation, deformation or disruption)

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4
Q

What is a malformation?

A

Anomaly (single or multiple) where the structure or tissue is abnormal from the start

(ex. cleft lip or palate)

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5
Q

What is a deformation?

A

Anomaly that is intrinsic or extrinsic in origin

(ex. of extrinsic deformation - structure/tissue is affected by outside forces resulting in an abnormal shape or position)

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6
Q

What is a disruption?

A

-Anomaly where the structure/tissue that was previously normal breaks down as a result of some type of insult to the developmental process
-Intrinsic, extrinsic + vascular insults can cause this

(ex. amputation of extremity due to amniotic bands OR malformation due to a teratogen like rubella)

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7
Q

What is a dysplasia?

A

Anomaly where the structure of tissue lacks the normal organization of cells

(ex. congenital ectodermal dysplasia)

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8
Q

What is genetics?

A

Study of heredity in living organisms

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9
Q

List the 2 groups of cells in the body?

A

Germ cells (gametes): 23 chromosomes (haploid) - consists of 22 autosomes + 1 sex chromosome either X or Y

Somatic cells (everything else): 23 pairs/46 chromosomes (diploid) - consists of 22 pairs of autosomes + 2 sex chromosomes

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10
Q

Somatic cells replicate through what process?

A

Mitosis - produces 2 daughter cells that are diploid (46 chromosomes)

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11
Q

Germ cells replicate through what process?

A

Meiosis - produces 4 daughter cells that are haploid (23 chromosomes)

(errors with meiosis can cause abnormalities in chromosomes)

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12
Q

What is heteroploidy?

A

Changes in the # of chromosomes present in the cells (are numeric anomalies)

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13
Q

What is euploidy?

A

-Condition where there are integral multiples of haploid number of chromosomes
-Meaning all chromosomes in the cell are affected equally

(ex. triploidy)

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14
Q

How many chromosomes are in a triploidy?

A

69 (3 x 23)

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15
Q

What is aneuploidy?

A

Condition where there is a departure from the euploid number of chromosomes

(ex. having extra chromosome (trisomy) OR missing a chromosome (monosomy))

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16
Q

What is inheritance?

A

Transmission of genetic code from parents to offspring

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17
Q

Differentiate autosomal dominant + recessive?

A

Dominant: When one parent has the dominant gene there is a 50% chance each child will inherit the trait.

Recessive: When each parent carries the gene with the trait but are not affected. Each child has a 25% chance of having the trait, 50% of becoming a carrier + 25% chance of not inheriting the gene.

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18
Q

What does X-linked mean?

A

Conditions associated with genes located on X chromosome, may be dominant or recessive (m/c)

(ex. color blindness)

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19
Q

What is multifactorial?

A

Conditions can occur as both genetic + nongenetic causes (they recur in families but there is no identifiable pattern of transmission)

(ex. cardiac defects, neural tube defects + facial clefting)

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20
Q

List 3 R/F’s for chromosomal abnormalities?

A

-Maternal age (>35) + paternal age (>40-45)
-Previous pregnancy with chromosomal abnormality
-History of early pregnancy loss

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21
Q

1st trimester prenatal screening is for assessing the risk for what?

A

Trisomy 13, 18 + 21

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22
Q

An increase in hCG, decrease in PAPP-A + increase in NT are associated with which trisomy?

A

Trisomy 21 (down syndrome)

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23
Q

In 2nd trimester, what 4 biochemical markers are used for prenatal screening?

A

MSAFP, hCG, unconjugated estriol (uE3) + inhibin A

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24
Q

MSAFP + uE3 are low while hCG + inhibin A are elevated in which trisomy?

A

Trisomy 21

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25
Q

What is beckwith-weidemann syndrome (BWS)?

A

-Overgrowth disorder

5 findings:
Macroglossia, anterior wall defects, hypoglycemia at birth, macrosomia + hemihpyperplasia

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26
Q

Name 1 feature of BWS?

A

Facial nevus flammeus (a pink or red patch on newborn’s skin)

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27
Q

Which chromosome does BWS affect?

A

Chromosome 11 (m/c autosomal dominant)

28
Q

What is the classic sonographic finding in BWS?

A

-Macroglossia + trisomy 21

29
Q

What is meckel-gruber syndrome?

A

Rare + characterized by renal dysplasia, limb anomalies + encephalocele

(1:1 ratio in males to females)

30
Q

Is meckel-gruber syndrome m/c autosomal dominant or recessive?

A

Recessive - is linked to multiple chromosomes

31
Q

List the 3 classic findings of meckel-gruber syndrome?

A

-Enlarged echogenic kidneys (100%)
-Polydactyly (55-75%)
-Occipital encephalocele (60-80%)

(oligohydramnios + absent bladder also seen due to lack of urine production)

32
Q

Do babies with meckel-gruber syndrome live?

A

No, don’t survive more than few fays due to renal malformations

33
Q

What is turner syndrome also called?

A

Monosomy X (45 XO)

34
Q

What is turner syndrome?

A

Absence of 1 of the 2 sex chromosomes

(m/c missing sex chromosome from the paternal contribution)

35
Q

Does turner syndrome only affect males or females?

A

Females

36
Q

Cause of turner syndrome (monosomy X)?

A

A sporadic event of a nondisjunction error occurring at gametogenesis

37
Q

What is the classic sonographic finding of turner syndrome?

A

A cystic hygroma (bulge at neck)

38
Q

What is potter sequence?

A

Describes the typical physical appearance caused by pressure in utero due to oligohydramnios

39
Q

Oligohydramnios may be caused by what 3 things?

A

-Renal anomalies
-Amniotic leakage
-Placental anomalies

40
Q

Diminished amniotic fluid volume impairs what?

A

Normal development of fetal structures + results in deformities of extremities, facial features (potter facies) + pulm hypoplasia

41
Q

What are other synonyms for potter sequence?

A

Potter syndrome + oligohydramnios syndrome are used interchangeably

42
Q

What is triploidy?

A

Presence of a complete extra set of chromosomes

(3% survival rate)

43
Q

99% of triploidy’s are due to what?

A

-2 sperms fertilizing 1 egg (diandry)
OR
-From an extra chromosome set from the mother (digyny)

44
Q

What type of thickening can be seen in 1st trimester when triploidy is present?

A

NT thickening

45
Q

Differentiate what will occur if the mother vs father contributes the extra chromosomes with triploidy?

A

Mother: fetus with asymmetric IUGR + small placenta

Father: fetus with symmetric IUGR + large placenta (partial hydatidiform mole)

46
Q

What is the m/c combination of findings with triploidy?

A

Ventriculomegaly + syndactyly of the 3rd/4th digtis

47
Q

What are the alternate names for trisomy 13, 18 + 21?

A

13: patau
18: edward
21: down

48
Q

What is trisomy 13?

A

-Chromosomal condition with a pattern of malformations that cause intrauterine + neonatal death
-Often due to advanced maternal age

49
Q

Does the triple or quadruple screening in the 2nd trimester show some benefit when looking for trisomy 13?

A

Quadruple - increased AFP in presence of a CNS or ventral wall defect

50
Q

Is the extra set of chromosomes with trisomy 13 inheritable?

A

No, it is a random event that is noninheritable

51
Q

What is a mosaic trisomy 13?

A

A person with the extra chromosome in some of his/her cells

52
Q

Is it easy to identify a fetus with trisomy 13 with u/s?

A

Yes - NT thickening in 1st trimester + multiple major anomalies seen in 2nd trimester (hard to miss)

53
Q

Do most trisomy fetuses survive to birth?

A

Yes - but most die after birth

54
Q

What is the 2nd m/c trisomy that can carry to term?

A

Trisomy 18 (m/c female)

55
Q

Does virtually every organ system have identifiable sonographic markers in associated with trisomy 18?

A

Yes:
-1st trimester NT thickening is greater than with trisomy 21
-Strawberry shaped skull
-ASD + VSDs
-Clenching of hands

56
Q

A combination of what 3 things is highly predictive of trisomy 18 in 3rd trimester?

A

-Abnormal hand posturing
-IUGR
-Polyhydramnios

(intrauterine death is common - but if fetus survives they will have profound mental + physical disabilities)

57
Q

What is the m/c pattern of malformation in man?

A

Trisomy 21 (found by John Langdon Down in 1866)

58
Q

Is there a single screening test that identifies trisomy 21?

A

Nope

59
Q

Trisomy 21 is m/c due to what 2 things?

A

-Maternal nondisjunction 95% of time (occurs when chromosomes fail to segregate during meiosis)
-Advanced maternal age

60
Q

Can trisomy 21 be inherited?

A

No - is random event in classic + mosaic forms

61
Q

Trisomy 21 fetuses are reported to have what findings?

A

-Cardiac defects
-Shortened humerus
-Thickened NF
-Absent/hypoplastic NB
-Shortened femur
-Mild pyelectasis
-Echogenic bowel
-Echogenic intracardiac focus

(only 25% of fetuses have detectable major anomalies in 2nd trimester)

62
Q

What is the highest level of sensitivity + specificity in identifying down syndrome in a fetus?

A

By identifying a cluster of markers, rather than just 1 finding

63
Q

What is the median life span for people with trisomy 21?

A

49 years - due to cardiac defects

64
Q

What is VATER/VACTERL association?

A

-Collection of anomalies that include vertebral defects, anal atresia, TE fistula + renal anomalies

-A complex condition that affects several parts of the body.
-Is an acronym that stands for the affected parts of the body including the vertebrae, anus, heart, trachea, esophagus, kidney and limbs.

65
Q

VATER/VACTERL is associated with X or Y linked chromosomes?

A

X-linked + is autosomal recessive

66
Q

Can VATER/VACTERL occur in a normal child?

A

Yes - or in children with chromosomal abnormalities

67
Q

Do most people with VATER/VACTERL association survive?

A

Yes - most get surgical correction + rehabilitation

MIDS 187 (19 decks)

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