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OB > PRENATAL DIAGNOSIS > Flashcards

PRENATAL DIAGNOSIS Flashcards

1
Q

INTRINSIC abnormality “programmed” in development

A

MALFORMATION

Spina bifida
Omphalocele

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2
Q

Fetus develops abnormally because of EXTRINSIC MECHANICAL FORCES imposed by uterine environment

A

DEFORMATION

Limb contractures that develop w/ oligohydramnios from bilateral renal agenesis

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3
Q

More severe change in form or function that occurs when genetically normal tissue is modified as a result of a specific insult

A

DISRUPTION

damage from an amniotic band –> limb reduction defect

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4
Q

Cluster of several anomalies or defects that have the same cause

A

SYNDROME

Trisomy 18

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5
Q

Anomalies that all developed sequentially from one initial insult

A

SEQUENCE

Pierre-Robin Sequence - micrognathia, glossoptosis

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6
Q

Group of specific abnormalities that occur frequently but do not seem to be linked etiologically

A

ASSOCIATION

VACTERL association - > 3 of the ff
Vertebral defects
Anal atresia
Cardiac defects
TracheoEsophageal fistula
Renal anomalies
Limb abnormalities
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7
Q

Inherited from 1 parent w/ the disease via a SINGLE GENE DEFECT

A

Autosomal Dominant

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8
Q

Required 2 affected alleles

A

Autosomal Recessive

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9
Q

Carried by MOTHER who is UNAFFECTED and passed only to SONS

A

X-linked disorders (hemophilia, fragile X)

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10
Q

Mothers –> sons and daughters

Fathers –> daughters

A

X-linked dominant

Aicardi syndrome - LETHAL in MALE

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11
Q

Presence of one or more extra chromosomes –> trisomy, or loss of chromosome monosomy

A

ANEUPLOIDY

> 50% of 1st trimester abortions

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12
Q

1st Trimester Aneuploidy Screening

11 and 14 weeks of gestation

A

human chorionic gonadotropin (hCG)
pregnancy associated plasma protein A (PAPP-A)
sonographic measurement of the nuchal translucency (NT)

DOWN SYNDROME
HIGHER b-hCG and LOWER PAPP-A

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13
Q

Increased nuchal translucency (NT) is associated with

A

various birth defects - FETAL CARDIAC ANOMALIES

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14
Q

2nd Trimester Aneuploidy Screening

15 - 21 weeks of gestation

A

DOWN SYNDROME
DECREASED - maternal serum AFP and unconjugated estriol
INCREASED hCG and dimeric inhibin levels

TRISOMY 18
DECREASED - maternal serum AFP, unconjugated estriol, hCG

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15
Q

QUAD SCREEN TEST

A
  1. alpha fetoprotein (AFP)
  2. beta human chorionic gonadotropin (b-hCG)
  3. unconjugated estriol
  4. dimeric inhibin A (DIA)
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16
Q

Maternal Serum Estriol Level

A

DECREASED
Smith Lemli Opitz Syndrome
Steroid Sulfatase Deficiency (X-Linked Ichthyosis)

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17
Q

AR condition

mutations in 7-DEHYDROCHOLESTEROL REDUCTASE GENE

A

Smith Lemli Opitz Syndrome

abnormalities of the CNS, heart, kidney and extremities
w/ ambiguous genitalia
fetal growth restriction

18
Q

AR disease

d.t. abnormality in the cystic fibrosis transmembrane conductance regulator (CFTR) - responsible for chloride channels

A

CYSTIC FIBROSIS

chronic lung disease d.t. recurrent infections –> irreversible lung damage and strain on right ventricle (COR PULMONALE)

pancreatic insufficiency (85%)

19
Q

AR disease

caused by a SINGLE point mutation in the gene for the BETA chain in hemoglobin –> hemoglobin (Hb S) –> polymers that when deoxygenated –> lose their biconcave shape and sickled appearance

HEMOGLOBIN ELECTROPHORESIS - maternal screen

A

SICKLE CELL ANEMIA

hemolytic anemia
shortened life expectancy
pain crises

20
Q

AR lysosomal storage disease

absence of the HEXOSAMINIDASE A –> accumulation of GM2 GANGLIOSIDES in the CNS, progressive neurodegeneration and death

brain - GRAY MATTER - highest concentrations of GANGLIOSIDE

A

TAY SACHS DISEASE

loss of alertness, hyperacusis
progressive developmental delay and neurologic degeneration
myoclonic and akinetic seizures

CHERRY RED SPOT
paralysis, blindness and dementia

21
Q

Typical phenotype of Down Syndrome

A

short stature
classic facies
developmental delay
mental retardation - 40 - 90

cardiac defects
duodenal atresia
stenosis
short limbs

22
Q

1st trimester screen (TRIPLE SCREEN)

A

nuchal translucency
PAPP-A
hCG

23
Q

Lethal aneuploidy; nearly all neonates dies in the first 2 years of life

A

TRISOMY 18 (EDWARD Syndrome)

associated w/ MULTIPLE CONGENITAL ANOMALIES
clenched fists, OVERLAPPING digits and ROCKER BOTTOM FISTS

cardiac defects - VSD, TOF
omphalocele
congenital diaphragmatic hernia
neural tube defects
choroid plexus cysts
24
Q

Has many similar findings w/ Trisomy 18

A 
holoprosencephaly
cleft lip and palate
UMBILICAL HERNIA
cystic hygroma
single nostril or absent nose
omphalocele

cardiac anomalies - hypoplastic left heart
limb anomalies - clubfoot and clubhand, polydactyl and overlapping fingers

25
Q

The MC sex chromosome aneuploidies

A 
Turner syndrome (45, X or monosomy X)
Klinefelter syndrome (47, XXY)
26
Q

Phenotypically FEMALE, SHORT STATURE

A

Turner syndrome (45, X or monosomy X)

primary amenorrhea, sexual infantilism, webbed neck, low set ears, low posterior hairline, epicanthal folds
wide carrying angle of the arms, shield like chest
wide set nipples
short 4th metacarpal
renal anomalies
lymphedema

COARCTATION OF THE AORTA

27
Q

The only anomaly in Turner syndrome seen in ultrasound

A

CYSTIC HYGROMA

28
Q

Klinefelter syndrome (47, XXY)

A

infertility
gynecomastia
mental retardation
elevated gonadotropin levels d.t. decreased levels of circulating androgens

29
Q

Formation of neural tube begins on

A

Days 22-23 (WEEK 4) - 4th and 6th somites

ANTERIOR neuropore (FUTURE BRAIN) - closes on day 25

POSTERIOR neuropore (FUTURE SPINAL CORD) - closes on day 27

30
Q

Neural Tube Defects (NTDs)

A

Spina Bifida

Anencephaly

31
Q

Classic Ultrasound Findings of Spina Bifida

A

“lemon” sign - concave frontal bones

“banana” sign - cerebellum that is pulled caudally and flattened

32
Q

Neural Tube Defects (NTDs)

A

Spina Bifida

Anencephaly

33
Q

Classic Ultrasound Findings of Spina Bifida

A

“lemon” sign - concave frontal bones

“banana” sign - cerebellum that is pulled caudally and flattened

34
Q

Typically performed b/w 10 and 13 weeks gestation

Specimen is sent for karyotyping or CMS

A

Chorionic Villus Sampling

35
Q

Results from RENAL FAILURE –> anhydramnios –> pulmonary hypoplasia and contractures/deformations of the limbs in the fetus

A

Potter Sequence

bilateral renal agenesis

36
Q

Kidneys development begins in

A

WEEK 4

PRONEPHROS

MESONEPHROS- WEEK 5 – mesonephric duct (Wolffian duct)

  • URETERIC BUD - offshoot of the mesonephric duct that dilates and subdivides to form URINARY COLLECTING SYSTEM (collecting tubules, calyces, renal pelvis and ureter)
  • (+) testosterone –> mesonephric duct (males) –> vas deferens, epididymis, ejaculatory duct and seminal vesicles
  • (+) testosterone –> mesonephric duct (females) –> degenerates EXCEPT for the vestigial Gartner’s duct

METANEPHROS - week 5; WEEK 9 - FUNCTIONING

ureteric bud from the mesonephric duct contacts the metanephros and induces it to form nephrons
RENAL AGENESIS - failure of contact

37
Q

Renal anomalies that are without much consequence

A

Horseshoe kidney
Ectopic kidney
Double ureter

38
Q

Common Risks of Amniocentesis

A 
pregnancy loss
infection (chorioamnionitis)
PPROM
fetal injury (w/ needle)
exposure to the mother of fetal cells (alloimmunization of mother)
39
Q

ELEVATED MSAFP

A

spina bifida
meningomyelocele
anencephaly

omphalocele
gastroschisis

previa, accreta

40
Q

Increased incidence of NTD

A

diabetes

women with seizure disorders - AED - carbamazepine, valproic acid

41
Q

Ultrasound findings in Down syndrome

A

AV CANAL DEFECT - classic cardiac anomaly

PYLORIC STENOSIS

OB (16 decks)

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