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FALL 2014 OB > Congenital Anomalies > Flashcards

Congenital Anomalies Flashcards

0
Q

What is CVS?

A

US directed biopsy of placenta-chorionic villi (chorion fondosum - fetal side of placenta)

tissue removed and cultured for cell growth - evaluated for chromosomal anomalies

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1
Q

What are the different types of genetic testing?

A

CVS (chorionic villus sampling)

amniocentesis

quadruple screen

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2
Q

What are the advantages to CVS?

A

performed early in pregnancy

done at 10-14 weeks MA - transcervical

after 10 weeks - transabdominal

Quick results - 1 week

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3
Q

When a CVS is done what is our role?

A

ultrasound guided - TA or TV

must scan post CVS to confirm fetal viability post procedure

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4
Q

CVS can be done TA or TV, where is the transducer?

A

TA for both

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5
Q

What are the risks associated with CVS?

A

Pregnancy loss o.5% to 2%

association with limb reduction defects if done prior to 8 weeks gest.

Rho (D) immune globulin - RhoGAM should be given to Rh-negative unsensitized women

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6
Q

What is an amniocentesis for?

A

initially used to relieve polyhydramnos

predict Rh isoimmunization

document fetal lung maturity

mid 1960’s used to obtain fetal cells to detect chromosomal abn.

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7
Q

What does amniocentesis evaluate for?

A

chromosomes 21, 13, 18, x, y

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8
Q

Who gets amniocentesis done the most?

A

AMA (advanced maternal age)

parent or previous child with chromosomal abn

abn AFP or quad screen

fetus with congenital anom on US

check lung maturity **L/S RATIO FINISH IMPORTANT

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9
Q

What do you document post amnio?

A

fetal heart rate

look for bleed

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10
Q

What is PUBS?

A

percutaneous umbilical blood sampling

same as a cordiocentesis

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11
Q

What is a cordiocentesis?

A

obtain fetal blood from umbilical cord near placental cord insertion

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12
Q

What are the two ways to measure alfa-fetoprotein?

A

MSAFP - Maternal serum

AFAFP - amniotic fluid alpha-fetoprotein

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13
Q

What are you looking for if there is an elevated AFP?

A

open neural tube defects (NTD)

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14
Q

What are you looking for if the AFP is decreased?

A

Chromosomal Abnormalities - trisomy 21, 18, 13

**incorrect dates **

fetal death

hydatidform moles

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15
Q

What does a CVS test detect?

A

chromosomal abnormalities

biochemical or metabolic disorders

hemoglobinopahies (ie. sickle cell)

16
Q

If the MSAFP is elevated but has a normal AFAFP what is the baby at risk for?

A

hydrocephalus

congestive heart disease

17
Q

88% anencephaly and 79% open spina bifida is detected by what serum?

A

MSAFP (maternal serum alphafetoprotein)

18
Q

which blood test is more sensitive for detecting trisomy 21 and 18?

A

quadruple screen (AFP, hCG, unconjugated estriol, dimeric inhibin A)

19
Q

If PAPP-A (pregnancy associated plasma protein) is increased in maternal serum throughout pregnancy, what might be wrong if it is decreased?

A

aneuploidy

20
Q

what detects Down’s syndrome?

A

Free Beta Human Chorionic Godadotropin

21
Q

What is aneuploidy?

A

abnormality of the number of chromosomes

22
Q

What is a chromosomal disorder?

A

too much or too little chromosome material

23
Q

What is an Autosomal Dominant disorder?

A

Usually carried by one affected partent

50% chance of occurrence with each pregnancy

24
Q

What is Autosomal Recessive disorder?

A

each parent carries defective gene

25% chance of occurrence with each pregnancy

25
Q

What is a nuchal translucency?

A

abnormal fluid collection behind fetal neck

26
Q

What does the nuchal translucency need to measure to be abnormal?

A

> 3mm

strongly associated with aneuploidy

27
Q

When is the best time to identify a nuchal translucency?

A

between 10-14 weeks

28
Q

What abnormalities are associated with nuchal translucency?

A

trisomies 13, 18, 21

triploidy

Turner’s

29
Q

What is trisomy 21?

A

Down’s Syndrome

extra chromosome number 21

30
Q

what is the most common chromosomal abnormality?

A

Trisomy 21 (Down’s Syndrome)

31
Q

What is trisomy 21 associated with?

A

advanced maternal age

abn nuchal translucency

abn first trimester screen

abn quad screen

32
Q

What are some features of a trisomy 21 baby?

A

flattened nose and face

upward slanting eyes

single palmer crease

short fifth finger that curves inward

widely separated first and second toes and increased skin creases

33
Q

What is another name for trisomy 18

A

Edward’s syndrome

2nd most common chromosomal trisomy

extra 18th chromosome

34
Q

What happens with babies with trisomy 18?

A

severe mental retardation

often spontaneously abort

90% die in the first year of life

35
Q

What are some physical features of trisomy 18?

A

small mouth and jaw

short neck

shield chest (short prominent sternum)

wide set nipples

Clenched hands with overlapping fingers

dysplastic or malformed ears

occiput is prominent

flexed big toe

prominent heels

FALL 2014 OB (4 decks)

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