Lesson 29: Patterns of Fetal Anomalies

Question 1

A pattern of multiple anomalies related to a single causative factor or pathology

Answer 1

Syndrome

Question 2

A pattern of multiple anomalies seen in numerous individuals that are NOT related to a causative factor

Answer 2

Association

Question 3

A pattern of multiple anomalies that result from an initial single anomaly

Answer 3

Sequence

Question 4

An anomaly, either single or multiple, which the structure or tissue is abnormal from the beginning. Ex) Cleft Lip

Answer 4

Malformation

Question 5

An anomaly that is either intrinsic or extrinsic in origin. When a structure or tissue is acted upon by outside forces resulting in an abnormal shape/position.

Answer 5

Deformation

Question 6

An anomaly in which the structure or tissue, previously normal, breaks down as a result of some type of insult to development. Ex) ABS or teratogen

Answer 6

Disruption

Question 7

An anomaly which the structure lacks the normal organization of cells, abnormal cell development

Answer 7

Dysplasia

Question 8

Germ cells (gametes) contain ____ chromosomes, or ____ set.

Answer 8

23
1

Question 9

The term haploid refers to _____ autosomes and _____ sex chromosome, either X or Y. Referred to as haploid

Answer 9

22
1

Question 10

Somatic cells contain ___ PAIRS of chromosomes and ____ sex chromosomes. They are referred to as diploid

Answer 10

23
2

Question 11

Somatic cells replicate through the process of _________ while germ cells replicate through the process of ________.

Answer 11

Mitosis
Meiosis

Question 12

Heteroploidy is the change in the _______ of chromosomes

Answer 12

Number

Question 13

The condition in which there are integral multiples of haploid number of chromosome. All chromosomes are affected equally. Ex) Triploidy or 69 chromosomes (3 x 23)

Answer 13

Euploidy

Question 14

The condition in which there is a departure from euploid number of chromosomes. Having one an extra chromosome in a set or missing one from a set. Ex) Trisomy or Monosomy

Answer 14

Aneuploidy

Question 15

When one parent has the dominant gene there is a _____% chance each child will inherit the trait or condition

Answer 15

50%

Question 16

Each parent carries the gene associated with the trait but are not affected. Each child has a ____% of having the condition, ____% of becoming a carrier, and ___% chance of not inheriting the gene

Answer 16

25%
50%
25%

Question 17

X-Linked Conditions tend to affect the _____ sex

Answer 17

Male

Question 18

_______- conditions are more common than ______, with a predominance in males. Ex) Colour blindess

Answer 18

Recessive
Dominant

Question 19

Term used to described conditions that can occur from genetic and nongenetic causes

Answer 19

Multifactorial

Question 20

Maternal age from 35 years and older increase the risk of Trisomy ____

Answer 20

21

Question 21

Prenatal screening in the first trimester is used to assess risk for trisomies ___, _____, _____.

Answer 21

13, 18, 21

Question 22

What tests make up the triple screen?

Answer 22

hCG
MSAFP
uE3 (unconjugated estriol)

Question 23

What test is added to the triple screen to make the quad screen?

Answer 23

Inhibin A

Question 24

Triple screening produces a ______ % detection rate

Answer 24

70%

Question 25

Quad screening produces an _____% detection rate

Answer 25

80%

Question 26

In trisomy 21, MSAFP and uE3 are _____, while hCG and inhibin A are _______.

Answer 26

low high

Question 27

Overgrowth disorder with 5 findings; Macroglossia, anteria wall defects, hypoglycemia, macrosomia, and himipyperplasia

Answer 27

Beckwith- Widemann Syndrome

Question 28

Facial Nevus Flammeus, or a pink/red patch, it seen in this Syndrome

Answer 28

Beckwith- Weidmann

Question 29

Renal Dysplasia (PCKD), Limb anomalies, and encephalocele presents in this syndrome

Answer 29

Meckel-Gruber

Question 30

Monosomy X, also called ______ Syndrome, results from the absence of one of the two sex chromosomes, most often on the _____ side

Answer 30

Turner Paternal

Question 31

Turner Syndrome only affects this sex

Answer 31

Female

Question 32

Horseshoe Kidney, Cystic Hygroma and Ovarian dysgenesis are present in this Syndrome

Answer 32

Turner

Question 33

Renal anomalies can cause Oligohydraminos, amniotic leakage, or placental abnormalites. This can cause _______ Syndrome

Answer 33

Potter

Question 34

The presence of a complete extra set of chromosomes is known as ______.

Answer 34

Triploidy

Question 35

NT thickening can be an indicator of ______

Answer 35

Triploidy

Question 36

Ventriculomegaly, Syndactyly of the 3rd and 4th digits are the most common findings in ______

Answer 36

Triploidy

Question 37

Trisomy 13 is known as ______ Syndrome

Answer 37

Patau

Question 38

Trisomy 18 is known as ____-Syndrome

Answer 38

Edward

Question 39

Microcephaly, facial anomalies, and polydactyly are common in Trisomy ______.

Answer 39

13

Question 40

Strawberry shaped head, choroid cysts, clenched hands, spina bifida are signs of Trisomy ___

Answer 40

18

Question 41

Nuchal thickening, cardiac defects, Sandal Gap, and clinodactyly are signs of Trisomy ____

Answer 41

21