Malformations And Shit

Question 1

3 Phases (and timeframe) of Human Prenatal Development

Answer 1

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

Question 2

3 Important Processes in Embryonic Period

Answer 2

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

Question 3

Fetal Period (action and anomalies)

Answer 3

Organ maturation and body growth

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

Question 4

Primary vs. Secondary malformation

Answer 4

Primary is genetic cause, secondary is exogenous

Question 5

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

Answer 5

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

Question 6

3 Deformation Examples

Answer 6

Club feet
Plagiocephaly
Hip dysplasia

Question 7

3 Causes of Deformation

Answer 7

Anomalies of uterus structure
Abnormal fetus position
Oligohydramnios

Question 8

Example of Disruption

Answer 8

Amniotic bands

Question 9

Dysplasia (3)

Answer 9

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

Question 10

Sequence

Answer 10

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

Question 11

2 Examples of Sequence

Answer 11

Potter Sequence

Pierre Robin Sequence

Question 12

Syndrome

Answer 12

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

Question 13

Association

Answer 13

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

Question 14

VACTERL Association (letters + 3 more points)

Answer 14

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

Question 15

4 Teratogenic Factors

Answer 15

Intrauterine infections
Medication/drugs
Physical causes
Maternal metabolic diseases

Question 16

5 (really 6) Intrauterine Infections

Answer 16

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

Question 17

Phenocopy

Answer 17

External exposure malformation looks the same as a genetic one

Question 18

2 Phenocopies of Thalidomide

Answer 18

Roberts Syndrome

Holt Oram

Question 19

Coumarins

Answer 19

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

Question 20

Coumarins Phenocopy

Answer 20

Conradi-hunermann

Question 21

Diabetic Embryopathy (cause and main symptom)

Answer 21

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

Question 22

Diabetic Fetopathy (cause and symptoms)

Answer 22

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

Question 23

MoM

Answer 23

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

Question 24

5 Kinds of Serum Screening Tests

Answer 24

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

Question 25

Integrated Screen vs. Sequential Screen

Answer 25

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

Question 26

Prenatal Screening vs. Diagnostic Testing

Answer 26

Screening is noninvasive, diagnostic is invasive

Question 27

5 Proteins Measured During Maternal Serum Screen

Answer 27

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

Question 28

3 Things that Increase AFP

Answer 28

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

Question 29

Most Common Reason for High AFP Levels

Answer 29

Underestimation of gestational age

Question 30

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

Answer 30

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

Question 31

3 Signs for DS from 1st Trimester Combined Screening

Answer 31

NT increase, PAPP-A decrease, hCG increase

Question 32

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

Answer 32

NT, PAPP-A, and hCG all increase

Question 33

3 Things that Decrease AFP

Answer 33

Trisomy 21, trisomy 18, and impending fetal demise

Question 34

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

Answer 34

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

Question 35

3 Things Tested for in Second Trimester Triple Screen

Answer 35

AFP, hCG, and uE3

Question 36

4 Things Tested for in 2nd Trimester Quadruple Screen

Answer 36

AFP, hCG, uE3, and DIA

Question 37

Sign of Open-Neural Tube Defect (ONTD)

Answer 37

Very high AFP

Question 38

4 Signs of DS from 2nd Trimester Quadruple Screen

Answer 38

Increased hCG Decreased AFP Increased DIA Decreased uE3

Question 39

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

Answer 39

Decreased AFP, hCG, and uE3

Question 40

Soft Markers

Answer 40

US signs suggestive of abnormalities but not diagnostic

Question 41

Prenatal Ultrasonography (first 2 trimesters)

Answer 41

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

Question 42

3 Kinds of Invasive Prenatal Diagnostic Tests

Answer 42

Amniocentesis Chorionic Villi Sampling (CVS) Percutaneous Umbilical Blood Sampling

Question 43

Preimplantation Genetic Diagnosis (PGD)

Answer 43

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

Question 44

Benefit of Amniocentesis

Answer 44

Least risky

Question 45

Benefit of CVS

Answer 45

Earliest and quickest results

Question 46

Advanced Maternal Age vs. Advanced Paternal Age Risks

Answer 46

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

Question 47

Cell-Free Fetal Nucleic Acid Screen

Answer 47

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