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Genetics > Week 7- Prenatal Diagnosis and Treatment > Flashcards

Week 7- Prenatal Diagnosis and Treatment Flashcards

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1
Q

What are 3 main reasons prenatal testing is done?

A

Family history or carrier testing
Advanced maternal age
Routine prenatal care

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2
Q

What is the goal of prenantal testing?

A

Inform couples about the risk of a birth defect or genetic disorder so they can make informed choices

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3
Q

What are some non-invasive tests?

A

Serum (maternal alpha fetoprotein)
Ultrasonography
Isolation of fetal cells from maternal circulation

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4
Q

What are 4 invasive tests for prenatal diagnosis and screening?

A

Amnicentesis
CVS (chorionic villus sample)
Cordocentesis)
Preimplantation genetic diagnosis

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5
Q

What is the removal of a needle into the amniotic sac to remove a sample of fluid?

A

Amniocentesis

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6
Q

When is an amniocenteisis normally performed?

A

15-16 weeks

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7
Q

What does an amniocentesis test?

A

Fetal chromosomes

Concentration of alpha-fetoprotein (AFP) in amniotic fluid

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8
Q

What does elevated AFP indicate?

A

Neural tube defect

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9
Q

What does decreased AFP indicate?

A

Down’s Syndrome

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10
Q

Where is AFP? Where is it excreted?

A

AFP is produced in the liver

Excreted by the kidneys

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11
Q

What is MSAFP?

A

Maternal serum AFP, non-invasive method

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12
Q

What is AFAFP?

A

Amniotic fluid, AFP, invasive

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13
Q

What test takes a biopsy of tissue from villous area of the chorion?

A

Chorionic Villus Sample

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14
Q

When is Chorionic Villus Sampling performed?

A

10-12 weeks of gestation

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15
Q

Can you assay AFP at the stage in which chorionic villus sampling is done?

A

No

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16
Q

When is there a high rate of mosaicism?

A

Chorionic Villus Sampling

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17
Q

What do you need for a definitive diagnosis of a NTD?

A

Ultrasonography

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18
Q

periconceptional supplementation with folic acid reduces risk of _____ and ______ ?

A

NTD and orofacial clefting

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19
Q

In many trisomic pregnancies ____ is depressed.

A

MSAFP

20
Q

What tests are done in the first trimester?

A

PAPP-A
hCG
Nuchal tranlucency

21
Q

What is PAPP-A?

A

Pregnancy associated plasma protein A

22
Q

Lower values of PAPP-A indicate what?

A

Aneuploidy

23
Q

What is looking at the thickness of echo free space b/w skin and soft tissue overlying the dorsal aspect of the cervical spine?

A

Nuchal translucency

24
Q

Abnormal excess of fluid in nuchal translucency indicates what?

A

Trisomies

45, X fetus

25
Q

In second trimester screening, what are the three tests in the triple screen? What is the 4th if a quad screen is performed?

A

Triple- MSAFP, free Beta-hCG, unconjugated estriol

Quad- add on Inhibin A

26
Q

When is the only instance where Inhibin A levels are increased?

A

Trisomy 21

27
Q

Does a negative screen mean that a trisomy or NTD isn’t present?

A

No- but risk is greatly reduced

28
Q

What is a high-resolution real time scan that is important for:
assessment of fetal age
fetal viability
detection of morphological abnormalities

A

Ultrasonography

29
Q

In order for a single gene disorder to be detected on ultrasonography what must it have?

A

A well defined phenotypic abnormality

30
Q

What is an autosomal dominant disorder with congenital heart defects and hand anomalies?

A

Holt-Oram Syndrome

31
Q

When is ultrasonography for fetal sex performed?

A

At 15 weeks of gestation (many times in conjunction with diagnosis of X-linked disorder)

32
Q

How long does culture and analysis take for cytogenetics?

A

7-10 days

33
Q

What screen is common for aneuplodies and can happen soon after amniocentesis or CVS. takes 1-2 days for rapid aneuploidy testing.

A

FISH (florescent in situi hybridization)

34
Q

In the use of cytogenetics from a sample obtained from CVS what is one of the drawbacks?

A

Banding resolution is lowered

Aneuploidies can be found, but not much after that

35
Q

What are the 3 more common abnormal karyotypes

A

Trisomies
Turner Syndrome
Unbalanced structural abnormalities

36
Q

What is the presence of two or more cell lines in an individual or tissue sample?

A

Mosaicism

37
Q

What is true mosaicism?

A

Multiple colonies from several different primary cultures

38
Q

What is pseudomosaicism

A

Only seen in a single cell- usually disregarded

39
Q

What might be the cause of mosaicism when XX and XY cells present?

A

Maternal cell contamination (more common in CVS)

40
Q

What is confined placental mosaicism?

A

When mosaicism may be present in placenta but absent in fetus.

41
Q

What is when a fertilized ovum containing three copies of a chromosome loses one of these chromosomes to form a normal, diploid chromosome complement.

A

Trisomy rescue

42
Q

What are 2 main problem with prenatal chromosome analysis.

A

Mosaicism

Culture failure

43
Q

How many disorders can be diagnosed in cultured fetal cells?

A

Over 100, but most are autosomal recessive

44
Q

What is an advantage to biochemical testing over DNA?

A

Biochemical testing can detect any abnormality that affects the protein but DNA analysis is only accurate for detection of mutation being tested

45
Q

In what disorder have prenatal bone marrow transplants been successful?

A

SCID

46
Q

Prenatal treatment is most successful in what type of disorders?

A

Metabolic disordes

Genetics (10 decks)

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