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Chapters 30-32 > Chromosomal Abnormalities > Flashcards

Chromosomal Abnormalities Flashcards

1
Q

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

A

chromosomal abnormality

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2
Q

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

A

46, 23

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3
Q

Condition in which there are an abnormal number of whole chromosomes

A

aneuploidy

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4
Q

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

A

edwards syndrome

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5
Q

Turner syndrome is also referred to as __________

A

monosomy X

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6
Q

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

A

syndrome

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7
Q

Chromosomal abnormalities often exist when there are:

A

multiple defects

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8
Q

_____ ______ 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.

A

down syndrome

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9
Q

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

A

malformation

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10
Q

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

A

dandy-walker

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11
Q

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.

A

Diploid

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12
Q

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

A

haploid

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13
Q

A cell having only one of an individual chromosome.

A

Monosomy

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14
Q

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

A

mosaic

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15
Q

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

A

triploid

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16
Q

A cell having 3 copies of an individual chromosome.

A

triploidy

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17
Q

Three lab values which usually compromise the triple screen :

A

MSAFP, estriol, hCG

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18
Q

AFP is produced by the:

A

yolk sac and liver

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19
Q

Estriol and hCG are produced by the:

A

placenta

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20
Q

Most common cause of abnormal serum screening test:

A

incorrect dates of pregnancy

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21
Q

PAPP-A and Inhibin A are produced by the :

A

placenta

22
Q

Advanced maternal age is considered to be:

A

35 years of age

23
Q

Three main procedures used to obtain material for fetal karyotyping:

A

chorionic villi sampling, amniocentesis, and cordocentesis

24
Q

Chorionic villi sampling can be performed TA or TV between :

A

10-13 weeks

25
Q

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

A

trophoblastic cells

26
Q

Amniocentesis is used for genetic purposes between :

A

15-20 weeks

27
Q

An amniocentesis may be done to asses the :

A

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

28
Q

Cordocentesis is also referred to as :

A

percutaneous umbilical cord sampling or fetal blood sampling

29
Q

Cordocentesis is performed TA after :

A

17 weeks

30
Q

PUBS has been associated with:

A

fetal bradycardia and hemorrhage at the sampling site

31
Q

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

A

48-72

32
Q

Most common chromosomal abnormality:

A

Trisomy 21

33
Q

Sonographic findings of down syndrome:

A 
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
34
Q

Maternal serum screening results of down syndrome:

A

Low MSAFP, Low estriol, Low PAPP-A

High inhibin A, High hCG

35
Q

Second most common chromosomal abnormality:

A

Edwards Syndrome : Trisomy 18

36
Q

Fetuses diagnosed with Trisomy 18:

A

Die either before or shortly after birth

37
Q

Maternal serum screening results of Edwards Syndrome:

A

Low everything

38
Q

Sonographic findings of Edwards Syndrome

A 
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)
39
Q

Holoprosencephaly and abnormal facies are common findings with:

A

Patau syndrome/trisomy 13

40
Q

Sonographic findings of patau syndrome:

A 
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
41
Q

Most fetuses with triploidy die :

A

in the first trimester or early second

42
Q

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

A

partial molar pregnancy

hCG

43
Q

Bilateral _______ _____ ____ are also often seen with triploidy.

A

theca lutein cysts

44
Q

Fist trimester findings of triploidy

A

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

45
Q

Second and Third trimester sonographic findings of triploidy:

A

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

46
Q

Disorder found in females AKA 45X or monosomy X

A

Turner syndrome

47
Q

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

A

paternal sex chromosome is missing

48
Q

Sonographic findings of turner syndrome:

A

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

49
Q

non-immune hydrops is the buildup of fluid within:

A

at least two fetal body cavities

50
Q

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

A

turner syndrome

51
Q

Maternal serum screening results for turner syndrome:

A

Low everything

52
Q

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

A

klinefelter syndrome

Chapters 30-32 (3 decks)

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