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Reproductive-Week 3/4 > Genetics > Flashcards

Genetics Flashcards

1
Q

What is the baseline risk for birth defects?

A

4% (1 in 25)

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2
Q

Birth defect due to INTRINSIC abnormalities, such as genetics; examples are Polydactyly and Cleft Lip; during embryonic period

A

Malformation

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3
Q

Birth defect due to EXTRINSIC factors that physically impinge on the fetus during development; examples are joint contractures and arhtrogyrposis (joint hooking); after embryonic period

A

Deformation

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4
Q

Birth defect caused by alteration of cellular constitution or tissue organization

A

Dysplasia

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5
Q

Birth defect due to the destruction of irreplaceable normal fetal tissue; usually due to amniotic bands and amputations

A

Disruption

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6
Q

Cascade of events from a single primary cause; example is Potter Sequence (renal agenesis–> oligohydramnios–> pulmonary hypoplasia and limb anomalies)

A

Sequence

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7
Q

Organogenesis is usually done by week…

A

Week 8 (embryonic period)

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8
Q

Examples of Chemical Teratogens

A 
Alcohol
Nicotine
Tetracyclines
Retinoic acid (Vit A)
Thalidomide
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9
Q

Which teratogen can result in yellow staining of teeth and diminished growth of long bones

A

Tetracyclines

*STUDY AID: “Teethracyclines”

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10
Q

Which teratogen can result in growth deficiency, intellectual disability, congenital heart defects and abnormal facial features (smooth philtrum, thin vermillion border, etc.)

A

Alcohol

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11
Q

Examples of TORCHeS infections

A 
Toxoplasmosis gondii
Other (Parvo and Varicella)
Rubella
CMV
HSV
Syphilis
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12
Q

Obstetric/Fetal risks of Maternal Diabetes

A 
Macrosomia
Caudal regression syndrome (legs)
Cardiac defects
neonatal hypoglycemia (hyperplasia of fetal islet cells)
Polycythemia
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13
Q

How can Ehlers-Danlos Syndrome complicate pregnancies

Mutations in Type III collagen

A

Worsening symptoms
Rapid onset labor
Uterine rupture
Arterial dissection/rupture

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14
Q

How can Marfan Syndrome complicate pregnancies

A

Valvular/Aortic complications

*HIGH risk

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15
Q

Signs/Symptoms of Down Syndrome

A
  • Flat facies
  • Duodenal Atresia
  • Broad nasal bridge
  • Low-set ears
    Single palmar crease
    Heart defects
    Intellectual disability
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16
Q

Chromosome 18 trisomy; Death by age 1 year; small head and jaw, low-set ears, profound intellectual disability and heart defects; CLENCHING of hands and ROCKER BOTTOM feet

A

Edward Syndrome

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17
Q

Fancy name for Trisomy 18

A

Edward Syndrome

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18
Q

Signs/Symptoms of Trisomy 18 (Edward Syndrome)

A
  • STUDY AID: “PRINCE” Edward
  • Prominent occiput
  • Rocker bottom feet
  • Intellectual disability
  • Nondisjunction
  • Clenched hands
  • low-set Ears
19
Q

Chromosome 13 Trisomy; Death by age 1 year; intellectual disability, polydactyly, holoprosencephaly and cleft lip/palate

A

Patau Syndrome

20
Q

Signs/Symptoms of Patau Syndrome (Trisomy 13)

A
  • STUDY AID: “P” atau syndrome
  • Polydactyly
  • cleft liP/Palate
  • holoProsencephaly (failure of forehead development)
  • cutis aPlasia (absence of skin in 정수리)
21
Q

Genotype for Klinefelter syndrome

A

47 XXY

22
Q

Genotype for Turner Syndrome

A

45 XO

23
Q

Aneuploidy (having missing or extra chromosomes) pathologies that are best diagnosed through ultrasound

A 
Trisomy 18 (Edward's syndrome)
Trisomy 13 (Patau Syndrome)
24
Q

Females with the genotype 45 XO; short stature; WEBBED neck, “shield-like” chest, COARCATION of aorta and Renal malformations

A

Turner Syndrome

25
Q

Signs/Symptoms of Turner Syndrome

A 
Short stature
Webbed neck
Broad "shield-like" chest
Coarctation of Aorta (narrowing of a short section of aorta)
horseshoe kidney
26
Q

Examples of Prenatal Diagnostic Testing and Screening

A

Chorionic Villus sampling
Amniocentesis
Multiple Marker Screening (cfDNA)
Genetic/Carrier Screening

27
Q

When is Chorionic Villus Sampling done

A

10-14 weeks

28
Q

Limitation of Chorionic Villus Sampling

A

Can’t test for open neural tube defects

29
Q

When is Amniocentesis performed?

A

> 15 weeks

30
Q

(Chorionic Villus Sampling/Amniocentesis) can test for open neural tube defects

A

Amniocentesis

31
Q

Proportion of unaffected individuals with a negative result; “TRUE” negatives

A

Specificity

32
Q

Proportion of AFFECTED individuals with POSITIVE result; “TRUE” positives

A

Sensitivity

33
Q

What proteins does the “Quad screening” look for

A

AFP
hCG
DIA (Inhibin A)
uE3 (estriol)

34
Q

What are the Quad Screening values for Down Syndrome (AFP, uE3, Inhibin and hCG)

A

Low AFP
Low uE3
High hCG
High Inhibin

35
Q

Serum protein marker; synthesized in the yolk sac, GI tract and liver of fetus; can indicate Multiple Gestations, Cystic Hygroma, Neural tube defects (Spina bifida, Anencephaly), Abdominal Wall and GI defects

A

AFP (Alpha-fetoprotein)

36
Q

What can cause an elevated AFP

A 
Multiple gestations
Spina bifida
Anencephaly
Abdomina Wall and GI defects
Cystic Hygroma
37
Q

Serum protein marker; produced by synctiotrophoblasts; rapidly peaks around 8 weeks, then decreases

A

hCG (Human Chorionic Gonadotropin)

38
Q

Serum protein marker; produced by placenta from precursors from fetal adrenal glands and liver; steadily inc. throughout preganncy; low levels can indicate Smith-Lemli-Optiz syndrome and Ichthyosis

A

uE3 (Estriol)

39
Q

Low levels of uE3 can be indicative of what pathologies

A

Smith-Lemli-Opitz Syndrome

Ichthyosis (widespread and persistent thick, dry, “fish-scale” skin)

40
Q

Serum protein marker; produced by gonads, corpus luteum and placenta; inhibits FSH

A

Inhibin A

41
Q

Common conditions seen in Ashkenazi Jews

A 
Tay Sacks
Cystic Fibrosis
Canavan disease
Familial Dysautonomia
Gaucher Disease
42
Q

Mutation seen in Cystic Fibrosis

A

delta F508

43
Q

Which Trinucleotide repeat is seen in Fragile X (elf looking kids)

A

CGG

Reproductive-Week 3/4 (13 decks)

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