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Flashcards in Malformations And Shit Deck (47)
1

3 Phases (and timeframe) of Human Prenatal Development

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

2

3 Important Processes in Embryonic Period

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

3

Fetal Period (action and anomalies)

Organ maturation and body growth
No more primary dysmorphisms but still have disruptions, deformities, or dysplasias

4

Primary vs. Secondary malformation

Primary is genetic cause, secondary is exogenous

5

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

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

6

3 Deformation Examples

Club feet
Plagiocephaly
Hip dysplasia

7

3 Causes of Deformation

Anomalies of uterus structure
Abnormal fetus position
Oligohydramnios

8

Example of Disruption

Amniotic bands

9

Dysplasia (3)

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

10

Sequence

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

11

2 Examples of Sequence

Potter Sequence
Pierre Robin Sequence

12

Syndrome

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

13

Association

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

14

VACTERL Association (letters + 3 more points)

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

15

4 Teratogenic Factors

Intrauterine infections
Medication/drugs
Physical causes
Maternal metabolic diseases

16

5 (really 6) Intrauterine Infections

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

17

Phenocopy

External exposure malformation looks the same as a genetic one

18

2 Phenocopies of Thalidomide

Roberts Syndrome
Holt Oram

19

Coumarins

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

20

Coumarins Phenocopy

Conradi-hunermann

21

Diabetic Embryopathy (cause and main symptom)

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

22

Diabetic Fetopathy (cause and symptoms)

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

23

MoM

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

24

5 Kinds of Serum Screening Tests

Triple Screen
Quadruple Screen
First Trimester Screen
Integrated Screen (best)
Sequential Screen

25

Integrated Screen vs. Sequential Screen

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

26

Prenatal Screening vs. Diagnostic Testing

Screening is noninvasive, diagnostic is invasive

27

5 Proteins Measured During Maternal Serum Screen

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

28

3 Things that Increase AFP

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

29

Most Common Reason for High AFP Levels

Underestimation of gestational age

30

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

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

31

3 Signs for DS from 1st Trimester Combined Screening

NT increase, PAPP-A decrease, hCG increase

32

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

NT, PAPP-A, and hCG all increase

33

3 Things that Decrease AFP

Trisomy 21, trisomy 18, and impending fetal demise

34

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

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

35

3 Things Tested for in Second Trimester Triple Screen

AFP, hCG, and uE3

36

4 Things Tested for in 2nd Trimester Quadruple Screen

AFP, hCG, uE3, and DIA

37

Sign of Open-Neural Tube Defect (ONTD)

Very high AFP

38

4 Signs of DS from 2nd Trimester Quadruple Screen

Increased hCG
Decreased AFP
Increased DIA
Decreased uE3

39

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

Decreased AFP, hCG, and uE3

40

Soft Markers

US signs suggestive of abnormalities but not diagnostic

41

Prenatal Ultrasonography (first 2 trimesters)

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

3 Kinds of Invasive Prenatal Diagnostic Tests

Amniocentesis
Chorionic Villi Sampling (CVS)
Percutaneous Umbilical Blood Sampling

43

Preimplantation Genetic Diagnosis (PGD)

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

44

Benefit of Amniocentesis

Least risky

45

Benefit of CVS

Earliest and quickest results

46

Advanced Maternal Age vs. Advanced Paternal Age Risks

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

47

Cell-Free Fetal Nucleic Acid Screen

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