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MIDS 187 - OB2 + OB3 > Patterns of Fetal Anomaly (lesson 29) > Flashcards

Patterns of Fetal Anomaly (lesson 29) Flashcards

1
Q

What is an analyte?

A

Any substance measured in a laboratory

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2
Q

What is Aneuploidy?

A

An abnormal number of chromosomes

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3
Q

What is a Haploid?

A

Normal number of chromosomes in a cell

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4
Q

What is Mitosis?

A

Division of a cell resulting in the normal haploid number

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5
Q

What is Meiosis?

A

Division of a cell in which there is a reudction, by half, in the normal haploid number of chromosomes

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6
Q

What is pre-eclampsia?

A

Triad of: HYPERTENSION, FLUID RETENTION (EDEMA), AND PROTEINURIA after 20 wks of gestation

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7
Q

What is a quadruple screen?

A

Testing for maternal levels of AFP, unconjugated estriol (uE3), hCG, and inhibin A

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8
Q

What does a triple screen test for?

A

Maternal levels of AFP, uE4, and hCG

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9
Q

What is a syndrome?

A

A pattern of multiple anomalies seen in numerous individuals that is not related to a single factor or pathology

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10
Q

What is an association?

A

A pattern of multiple anomalies seen in numerous individuals that is not related to a single factor or pathology

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11
Q

What is a sequence?

A

A pattern of multiple anomalies that results from an initial single anomaly.

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12
Q

What can be the result of a malformation, deformation, or disruption? (sequence, association, or syndrome)

A

A sequence

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13
Q

What are the 4 categories of anomalies? MDDD

A

Malformation, deformation, disruption, dysplasia

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14
Q

What is heteroploidy?

A

Changes of number of chromosomes present in the cells - numeric anomalies

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15
Q

What is Euploidy?

A

The condition in which there are integral multiples of the haploid number (23) of chromosomes (ex; Triploidy)

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16
Q

What is Aneuploidy?

A

A departure from the euploid number of chromosomes (having an extra chromosome in a set, triploidy, or missing a chromosome of a set, monosomy)

17
Q

When does the chromosomal nondisjunction occur during?

A

Meiosis

18
Q

What is more common: structural abnormalities of the chromosomes or numerical abnormalities?

A

Numerical abnormalities

19
Q

What can cause breakage of a chromosome?

A

Drugs, radiation, viruses, or chemical agents
DRVC

20
Q

What are two examples of environmental teratogens?

A

Fetal rubella syndrome and fetal alcohol syndrome

21
Q

What are the risk factors for chromosomal abnormalities? (4)

A

Maternal age, previous pregnancy with chromosomal abnormality, history of pregnancy loss, advanced paternal age

22
Q

In the first trimester, what are the 3 measurements done for screening for Trisomy 21?

A

Increase in hCG
Decrease in PAPP-A
Increased NT

23
Q

What are the 4 biochemical markers used for prenatal screening in the second trimester?

A

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

24
Q

What is one of the two syncytiotrophoblastic hormones used in prenatal screening?

A

uE3

25
Q

What organs synthesize uE3?

A

Adrenal gland and liver

26
Q

What deconjugates uE3?

A

Placenta

27
Q

In Trisomy 21, a quadruple screen will have which values elevated and which values low?

A

Inhibin A (elevated)
hCG (elevated)
AFP (low)
uE3 (low)

28
Q

What is the classic sonographic feature in Beckwith-Weidemann Syndrome?

A

Macroglossia

29
Q

What is a Triploidy?

A

The presence of a complete extra set of chromosomes

30
Q

In first trimester, what lab values are affected in Triploidy?

A

Elevated MSAFP and hCG, low PAPP-A

31
Q

In second trimester, what lab values are affected in Triploidy?

A

hCG low, low uE3, low (or normal) AFP

32
Q

90% of triplodies are due to… ?

A

two sperms fertilizing one egg or from an extra chromosome set from the mother

33
Q

What is diandry?

A

Two sperms fertilizing one egg

34
Q

What is digyny?

A

An extra chromosome set from the mother

35
Q

In Triploidy, what happens if the mother contributes the extra chromosomes?

A

A fetus with asymmetric IUGR and a small placenta

36
Q

In Triploidy, what happens if the father contributes the extra chromosomes?

A

A fetus with symmetric IUGR and a large (hydropic) placenta

37
Q

What is a mosaic trisomy 13?

A

A person with the extra chromosome in some of their cells

MIDS 187 - OB2 + OB3 (8 decks)

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