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Biochemistry > Malformations And Shit > Flashcards

Malformations And Shit Flashcards

1
Q

3 Phases (and timeframe) of Human Prenatal Development

A 
Preimplantation/implantation (ovulation-end of 2nd week postconception)
Embryonic period (wk 3-8)
Fetal period (wk 9-birth)
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2
Q

3 Important Processes in Embryonic Period

A

Organogenesis
Gastrulation (formation of germ layers)
Neural crest cell migration & closure

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3
Q

Fetal Period (action and anomalies)

A

Organ maturation and body growth

No more primary dysmorphisms but still have disruptions, deformities, or dysplasias

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4
Q

Primary vs. Secondary malformation

A

Primary is genetic cause, secondary is exogenous

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5
Q

3 Kinds of Structural Defects, Def.s, and Period of Arisal

A

Malformation - poor formation of tissue/embryonic
Deformation - unusual forces on normal tissue/fetal
Disruption - breakdown of normal tissue/fetal

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6
Q

3 Deformation Examples

A

Club feet
Plagiocephaly
Hip dysplasia

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7
Q

3 Causes of Deformation

A

Anomalies of uterus structure
Abnormal fetus position
Oligohydramnios

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8
Q

Example of Disruption

A

Amniotic bands

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9
Q

Dysplasia (3)

A

Ongoing disturbance in the development of particular tissue or cell type
Usually genetic etiology
May be lasting or progressive as long as affected tissue type is growing

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10
Q

Sequence

A

Combination of morphological abnormalities that do not originate from a cellular malfunction of affected organs - one sequence leads to other malfunction

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11
Q

2 Examples of Sequence

A

Potter Sequence

Pierre Robin Sequence

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12
Q

Syndrome

A

Combination of developmental abnormalities/malformations presumed to be due to single underlying etiology

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13
Q

Association

A

Combination of independent malformations for which there is no known common pathogenic mech (3+ occurring together at greater than expected freq)

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14
Q

VACTERL Association (letters + 3 more points)

A 
Sporadic, male>female, diagnosis of exclusion
Vertebral defects
Anal atresia
Cardiac defects
Tracheoesophageal fistula
Renal anomaly
Limb defects
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15
Q

4 Teratogenic Factors

A

Intrauterine infections
Medication/drugs
Physical causes
Maternal metabolic diseases

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16
Q

5 (really 6) Intrauterine Infections

A 
TORCH -
Toxoplasmosis
Other (varicella and parvovirus B19)
Rubella
Cytomegalovirus
Herpes
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17
Q

Phenocopy

A

External exposure malformation looks the same as a genetic one

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18
Q

2 Phenocopies of Thalidomide

A

Roberts Syndrome

Holt Oram

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19
Q

Coumarins

A

Short stature/limb reduction/hypoplastic nose defect arising from Warfarin

20
Q

Coumarins Phenocopy

A

Conradi-hunermann

21
Q

Diabetic Embryopathy (cause and main symptom)

A

Untreated and severe maternal diabetes prior to getting pregnant, during embryogenesis
Causes sirenomelia - lack of development of sacru/pelvis/legs - mermaid syndrome

22
Q

Diabetic Fetopathy (cause and symptoms)

A

Uncontrolled maternal diabetes after completion of embryogenesis, gestational diabetes
Large baby and worry about hyperinsulinism/hypoglycemia

23
Q

MoM

A

Multiple of the Median (of the laboratory), how serum screening tests reported

24
Q

5 Kinds of Serum Screening Tests

A 
Triple Screen
Quadruple Screen
First Trimester Screen
Integrated Screen (best)
Sequential Screen
25
Q

Integrated Screen vs. Sequential Screen

A

Integrated takes measurements at 1st and 2nd trimester and reports at end of 2nd. Sequential just does them sequentially

26
Q

Prenatal Screening vs. Diagnostic Testing

A

Screening is noninvasive, diagnostic is invasive

27
Q

5 Proteins Measured During Maternal Serum Screen

A 
Alpha-fetal prot (AFP)
Pregnancy-associated plasma prot A (PAPP-A)
hCG
Unconjugated estradiol (uE3)
Inhibin A (DIA)
28
Q

3 Things that Increase AFP

A

Increasing Gestational Age
Multiple fetuses
Open neural tube defect/abdominal wall defect, or any other open defect increases a LOT

29
Q

Most Common Reason for High AFP Levels

A

Underestimation of gestational age

30
Q

1st Trimester Combined Screening (4 measurements and what it gives risk for [2])

A

Measures nuchal translucency (NT), PAPP-A, and hCG and gives risk for fetal trisomy 21 and 18

31
Q

3 Signs for DS from 1st Trimester Combined Screening

A

NT increase, PAPP-A decrease, hCG increase

32
Q

3 Signs for Trisomy 13/18 from First Trimester Combined Screening

A

NT, PAPP-A, and hCG all increase

33
Q

3 Things that Decrease AFP

A

Trisomy 21, trisomy 18, and impending fetal demise

34
Q

High Risk for DS, Trisomy 13/18, and ONTD

A

DS: 1/270
Trisomy 13/18 - 1/100
ONTD - >2.5 MoM

35
Q

3 Things Tested for in Second Trimester Triple Screen

A

AFP, hCG, and uE3

36
Q

4 Things Tested for in 2nd Trimester Quadruple Screen

A

AFP, hCG, uE3, and DIA

37
Q

Sign of Open-Neural Tube Defect (ONTD)

A

Very high AFP

38
Q

4 Signs of DS from 2nd Trimester Quadruple Screen

A

Increased hCG
Decreased AFP
Increased DIA
Decreased uE3

39
Q

3 Signs of Trisomy 13/18 from 2nd Trimester Triple Screen

A

Decreased AFP, hCG, and uE3

40
Q

Soft Markers

A

US signs suggestive of abnormalities but not diagnostic

41
Q

Prenatal Ultrasonography (first 2 trimesters)

A

1st Trimester usually finds proof of intact intrauterine pregnancy and confirms gestational age, and while it can find developmental defects, usually 2nd trimester notices these and more specific US is recommended

42
Q

3 Kinds of Invasive Prenatal Diagnostic Tests

A

Amniocentesis
Chorionic Villi Sampling (CVS)
Percutaneous Umbilical Blood Sampling

43
Q

Preimplantation Genetic Diagnosis (PGD)

A

IVF, then sample single cell from blastomere and diagnose w/ FISH or PCR and only implant healthy embryo

44
Q

Benefit of Amniocentesis

A

Least risky

45
Q

Benefit of CVS

A

Earliest and quickest results

46
Q

Advanced Maternal Age vs. Advanced Paternal Age Risks

A

Maternal increases risk of aneuoploidy while paternal may increase risk of de novo AD muts

47
Q

Cell-Free Fetal Nucleic Acid Screen

A

New procedure that tests fetal DNA fragments in maternal circulation, most specific and sensitive screen

Biochemistry (23 decks)

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