Patterns of Fetal Anomaly (lesson 29)

Question 1

What is an analyte?

Answer 1

Any substance measured in a laboratory

Question 2

What is Aneuploidy?

Answer 2

An abnormal number of chromosomes

Question 3

What is a Haploid?

Answer 3

Normal number of chromosomes in a cell

Question 4

What is Mitosis?

Answer 4

Division of a cell resulting in the normal haploid number

Question 5

What is Meiosis?

Answer 5

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

Question 6

What is pre-eclampsia?

Answer 6

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

Question 7

What is a quadruple screen?

Answer 7

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

Question 8

What does a triple screen test for?

Answer 8

Maternal levels of AFP, uE4, and hCG

Question 9

What is a syndrome?

Answer 9

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

Question 10

What is an association?

Answer 10

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

Question 11

What is a sequence?

Answer 11

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

Question 12

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

Answer 12

A sequence

Question 13

What are the 4 categories of anomalies? MDDD

Answer 13

Malformation, deformation, disruption, dysplasia

Question 14

What is heteroploidy?

Answer 14

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

Question 15

What is Euploidy?

Answer 15

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

Question 16

What is Aneuploidy?

Answer 16

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

Question 17

When does the chromosomal nondisjunction occur during?

Answer 17

Meiosis

Question 18

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

Answer 18

Numerical abnormalities

Question 19

What can cause breakage of a chromosome?

Answer 19

Drugs, radiation, viruses, or chemical agents
DRVC

Question 20

What are two examples of environmental teratogens?

Answer 20

Fetal rubella syndrome and fetal alcohol syndrome

Question 21

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

Answer 21

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

Question 22

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

Answer 22

Increase in hCG
Decrease in PAPP-A
Increased NT

Question 23

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

Answer 23

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

Question 24

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

Answer 24

uE3

Question 25

What organs synthesize uE3?

Answer 25

Adrenal gland and liver

Question 26

What deconjugates uE3?

Answer 26

Placenta

Question 27

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

Answer 27

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

Question 28

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

Answer 28

Macroglossia

Question 29

What is a Triploidy?

Answer 29

The presence of a complete extra set of chromosomes

Question 30

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

Answer 30

Elevated MSAFP and hCG, low PAPP-A

Question 31

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

Answer 31

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

Question 32

90% of triplodies are due to... ?

Answer 32

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

Question 33

What is diandry?

Answer 33

Two sperms fertilizing one egg

Question 34

What is digyny?

Answer 34

An extra chromosome set from the mother

Question 35

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

Answer 35

A fetus with asymmetric IUGR and a small placenta

Question 36

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

Answer 36

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

Question 37

What is a mosaic trisomy 13?

Answer 37

A person with the extra chromosome in some of their cells