Chromosomal Abnormalities

Question 1

______ _____ exists as an error in either the number or structure of chromosomes

Answer 1

chromosomal abnormality

Question 2

The normal cell has _____ chromosomes or 2 pairs of ___.

Answer 2

46, 23

Question 3

Condition in which there are an abnormal number of whole chromosomes

Answer 3

aneuploidy

Question 4

_________ _____ is an example of a specific type of aneuploid in which there is an additional copy of the chromosome 18 .

Answer 4

edwards syndrome

Question 5

Turner syndrome is also referred to as __________

Answer 5

monosomy X

Question 6

A ____ is a group of clinically observable findings that exist together and allow for classification.

Answer 6

syndrome

Question 7

Chromosomal abnormalities often exist when there are:

Answer 7

multiple defects

Question 8

_____ ______ has clinically identifiable signs such as a flat facial profile and a transverse crease in the palm of the hand, example of symptoms would be developmental delays and hearing loss.

Answer 8

down syndrome

Question 9

A _________ is a structural abnormality that results from unusual development.

Answer 9

malformation

Question 10

_______ _____ is a congenital brain malformation that is thought to be caused by a developmental deviation in the roof of the fourth ventricle.

Answer 10

dandy-walker

Question 11

A cell having the normal pair of each chromosome. there are 46 chromosomes in this situation. Normal cells are this, with the exception of the gametes.

Answer 11

Diploid

Question 12

A cell having only one member of each pair of chromosomes.

Answer 12

haploid

Question 13

A cell having only one of an individual chromosome.

Answer 13

Monosomy

Question 14

A situation in which some cells have an abnormal number of chromosomes whereas others do not.

Answer 14

mosaic

Question 15

A cell having 3 times the normal haploid number. there are 69 chromosomes.

Answer 15

triploid

Question 16

A cell having 3 copies of an individual chromosome.

Answer 16

triploidy

Question 17

Three lab values which usually compromise the triple screen :

Answer 17

MSAFP, estriol, hCG

Question 18

AFP is produced by the:

Answer 18

yolk sac and liver

Question 19

Estriol and hCG are produced by the:

Answer 19

placenta

Question 20

Most common cause of abnormal serum screening test:

Answer 20

incorrect dates of pregnancy

Question 21

PAPP-A and Inhibin A are produced by the :

Answer 21

placenta

Question 22

Advanced maternal age is considered to be:

Answer 22

35 years of age

Question 23

Three main procedures used to obtain material for fetal karyotyping:

Answer 23

chorionic villi sampling, amniocentesis, and cordocentesis

Question 24

Chorionic villi sampling can be performed TA or TV between :

Answer 24

10-13 weeks

Question 25

CVS under sonographic guidance, a needle is placed into the placental mass for aspiration of:

Answer 25

trophoblastic cells

Question 26

Amniocentesis is used for genetic purposes between :

Answer 26

15-20 weeks

Question 27

An amniocentesis may be done to asses the :

Answer 27

fetal lungs for maturity by obtaining the fluid and testing the lecithin and sphingomyelin ration.

Question 28

Cordocentesis is also referred to as :

Answer 28

percutaneous umbilical cord sampling or fetal blood sampling

Question 29

Cordocentesis is performed TA after :

Answer 29

17 weeks

Question 30

PUBS has been associated with:

Answer 30

fetal bradycardia and hemorrhage at the sampling site

Question 31

PUBS allows for detection of chromosomal anomalies, it only reqiures ______ hours for analysis

Answer 31

48-72

Question 32

Most common chromosomal abnormality:

Answer 32

Trisomy 21

Question 33

Sonographic findings of down syndrome:

Answer 33

``` Absent nasal bone Brachycephaly clinodactyly duodenal atresia echogenic intracardiac focus hyperechoic bowel macroglossia mild ventriculomegaly nonimmune hydrops nuchal thickening >6mm between 15-21 weeks thickened Nuchal translucency Pericardial effusion pyelectasis Sandal gap shortened limbs ventricular septal defects widened pelvic angles ```

Question 34

Maternal serum screening results of down syndrome:

Answer 34

Low MSAFP, Low estriol, Low PAPP-A | High inhibin A, High hCG

Question 35

Second most common chromosomal abnormality:

Answer 35

Edwards Syndrome : Trisomy 18

Question 36

Fetuses diagnosed with Trisomy 18:

Answer 36

Die either before or shortly after birth

Question 37

Maternal serum screening results of Edwards Syndrome:

Answer 37

Low everything

Question 38

Sonographic findings of Edwards Syndrome

Answer 38

``` Starwberry-shaped skull Agenesis of the Corpus callosum Choroid plexus cyst Hypoplastic Cerebellum enlarged CM hydrocephalus micrognathia small, low-set ears esophageal atresia Spina bifida Clenched hands, overlapping index finger, fixed wrists cardiac defects (including VSD and tetralogy of Fallot) Omphalocele Non-immune hydrops diaphragmatic hernia renal anomalies single umbilical artery feet abnormalities (rockerbottom feet, clubfeet) ```

Question 39

Holoprosencephaly and abnormal facies are common findings with:

Answer 39

Patau syndrome/trisomy 13

Question 40

Sonographic findings of patau syndrome:

Answer 40

``` Microcephaly polydactyly holoprosencephaly ventriculomegaly Hydrocephalus agenesis of the corpus callosum small low set ears Facial anomalies (cyclopia, cleft lip, cleft palate, microopthalmia, hypotelorism Cardiac defects (hypoplastic left heart and echogenic intracardiac focus) omphalocele nonimmune hydrops renal anomalies ( hydro, echogenic enlarged kidneys) single umbilical artery clubfeet ```

Question 41

Most fetuses with triploidy die :

Answer 41

in the first trimester or early second

Question 42

Often a ___________ is found with a triploid fetus, thus resulting in elevated _______

Answer 42

partial molar pregnancy | hCG

Question 43

Bilateral _______ _____ ____ are also often seen with triploidy.

Answer 43

theca lutein cysts

Question 44

Fist trimester findings of triploidy

Answer 44

cystic spaces seen within an enlarged placenta ( molar pregnancy ), fetal demise, bilateral ovarian theca lutein cysts

Question 45

Second and Third trimester sonographic findings of triploidy:

Answer 45

holopros, dandy-walker, agenesis of the Corpus callosum, hydrocephalus, facial abnormalities (micrognathia, microphthalmia), small low set ears, cardiac defects, renal anomalies, IUGR, omphalocele, syndactyly (3rd and 4th fingers) Single umbilical artery, clubfeet

Question 46

Disorder found in females AKA 45X or monosomy X

Answer 46

Turner syndrome

Question 47

Turner syndrome is known as monosomy X because most often the:

Answer 47

paternal sex chromosome is missing

Question 48

Sonographic findings of turner syndrome:

Answer 48

Increased nuchal translucency, cystic hygroma, renal anomalies (horseshoe kidneys and renal agenesis), cardiac defects (coarctation of the aorta), Nonimmune hydrops

Question 49

non-immune hydrops is the buildup of fluid within:

Answer 49

at least two fetal body cavities

Question 50

Ascites, pleural effusions, pericardial effusion, and subcutaneous edema are all common findings with:

Answer 50

turner syndrome

Question 51

Maternal serum screening results for turner syndrome:

Answer 51

Low everything

Question 52

AKA 47, XXY, is a male chromosomal anomaly that can result in hypogonadism, small testis, tall stature, long legs and arms, and gynecomastia:

Answer 52

klinefelter syndrome