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OBSTETRIC PATHOLOGY > PRENATAL DIAGNOSIS OF CONGENITAL ANOMALIES > Flashcards

PRENATAL DIAGNOSIS OF CONGENITAL ANOMALIES Flashcards

1
Q

Genetic testing

A

Chorionic villus sampling
Alternative to amniocentesis
Early in 10 to 14 weeks
The results available within one week

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2
Q

US BEFORE SAMPLING TO DETRIMENT

A

Relation between lie of uterus and cervix and path catheters
Bladder fullness influence relationship and catheter route
Fetus for life normal morphology
Problems
Uterin masses or problems may affect passage of the catheter

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3
Q

Early CVS cause

A

Prior to 9 weeks
Cause birth defects in the limbs
Missing fingers and toes
Malformation of tongue and jaw

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4
Q

Amniocentesis common reason

A

Advanced maternal age

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5
Q

Indications for amniocentesis

A

History of balanced rearrangement of choromosomes in parent or previous child
Abnormal AFP
Abnormal triple screen
Fetus with congenital anomaly

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6
Q

Balanced chromosomal rearrangement
Balanced chromosomal abnormality

A

Type of chromosomal structural variant
Chromosomal rearrangement
Translocation
Inversions
Insertion

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7
Q

Early amniocentesis lead to

A

15 and 20 weeks
As early as 12 weeks
Fetal scoliosis
Club foot
Reduced amount of AF

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8
Q

Optimal collection site forAF

A

Away from fetus
Away from central portion of placenta
Away from umblicalcard
Near maternal midline to avoid maternal vessels

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9
Q

Technique of amniocentesis needle

A

Do not angle the needle
Needle parallel to the td tip of needle can be seen

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10
Q

Amniocentesis and multiple gestations

A

Examination foreach fetus
fetal anatomy and growth profile
Monozygotic or dizygotic
Multiples sacs and amount of amniotic fluid within each sac
Indigo Carmin aye can be injected into first sac

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11
Q

Avoid placenta in Rh negative

A

Rohgam should be injected to all negative RH within 72 hours
Rh incompatibility

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12
Q

Level of bilirubin may range from

A

Mild to dangerously high
First born baby often not affected unless mother had past miscarriage or abortion
, . first baby it takes Romero develop antibody
But all ‘children after are affected
if they are Rh positive

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13
Q

RHoGAM

A

Immunoglobulin used for prevent Rh D in mothers who are Rh negative

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14
Q

Cordocentesis

A

From umblicalcord
For analyze feral chromosomes
Karyotype results in 2 - 3 days
AvailabilityTO FISH has decreased need for this
Mare used as a guidance for Transfusion bloodin feral ISO immunization

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15
Q

Invasive procedures

A

Amniocentesis
Cordocentesis
Chorion villi sampling

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16
Q

Alpha-fetoprotein

A

AFP is major protein in feral serum
Produced by yolk sac and then feral liver
Alsofound in spine, gi tract liver-kidneys
Transported into AF by urination and reaches maternal circulation or blood by membranes

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17
Q

Major protein in fetal serum

A

AFP

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18
Q

AFP found

A

Feral spine
gi tract
Liver
Kidneys

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19
Q

AFP reaches to maternal circulation
Through

A

Through AF by fetal
Urination and membranes
,AF - AFP amniotic fluid
FS-AFP feral serum
MS-AFP maternal serum

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20
Q

Common reason for high AFP

A

Open Spina bifida
anencephaly
Neural tube defects monitoring AFP

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21
Q

Screening test neural tube defect

A

Monitoring of AFP

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22
Q

MSAFP screening detects

A

75% to 90% open neural defects
85% abdominal wall defects

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23
Q

MSAFP Peak from
MS AFP with G age
AF AFP with G age

A

15-to 18 weeks
Increase with gestational age
Af decreasewith age feral

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24
Q

Common reason for elevation

A

Incorrect dates

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25
Q

Reasons for elevation AFP

A

Acrania
Encephalacele
With Meckel Gruber syndrome
Ancancephay more than spina bifida
Sacrococcygel teratama
Abdominal wall defeats emphalocele,gastrochisis
(Higher) in gastro
Bladder or cloacal extrophy
Ectopic cordis
Limb-body wall complex
Amniotic band syndrome
Twin pregnancy
Obstruction of GI tract xx
Annular pancreas
Esophageal atresia
DUOdeNAl atresia
Kidney lesion
Congenital nephrosis
Polycystic kidney
Urinary tract obstruction
Placental lesion -chorioinangiamas -hemangioma-hematoma
Heart failure
severed sensitized fetus with Rh may have,heart failure
Because of severe anemia
Cystic hygroma
Liver disease

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26
Q

Multiple gestation with death of co-towin

A

Fetus papyraceous
One-acardiac twin
AFP Î

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27
Q

Extremes high AFPare excreted by kidneys in

A

Congenital nephrosis

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28
Q

Placental lesions AFP î

A

Hemãto angioma
Hematoma
Chorinangiamas

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29
Q

Problem in severely sensitized fetus with Rh

A

Heart failure because of severe anemia

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30
Q

Eligohydramnios may have

A

Higher concentration of AFP bcs there is less fluid to diffuse protein

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31
Q

Low AFP

A

Trisomy 21
18 13
Incorrect date
Feral death
Hydatidiform form moles,
Spontaneous abortion
Non pregnant state

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32
Q

More specificfor detecting level ofAFP

A

AF AFP

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33
Q

Specific for detecting an open neural tube

A

Acetylcholine esterase
Beyond 20 weeks
Because AFP is no langer sensitive

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34
Q

Quadruple screen

A

Prendial Test measure levels of four substances in woman’s blood
AFP
HCG
ESTRIOL
INHIBIN A

35
Q

Triple test

A

Triple screen
Biochemical screening test combines 3 serum marker
AFP
HCG
UNCONJUGATED estriol
Improve Detect trisomy 21 over MSAFP testing alone

36
Q

Biochemical screening in trisomy 21 reveals

A

High hCG
AFP decrease
ESTRIOL ↓

37
Q

Trisomy 18
Edward syndrome

A

HCG ↓
AFP DECREASE
EstriOL decrease

38
Q

Improving sensitive in detecting Down syndrome

A

INHIBIN A

39
Q

First trimester serum marker detect anomalies

A

PAPPA A
Trophoblastic tissue
Increase in maternal serum through pregnancy

40
Q

PAPPA A levels in aneploidy

A

Decrease

41
Q

In first trimester as sensitive screening test for Down syndrome

A

Free B hCG
PAPPA
Nuchal translucently

42
Q

Bhc in first trimester for

A

Down syndrome

43
Q

PAPPA AND hCG combined with NT
DETECTION FOR

A

Down syndrome
Greater than or equal to qudraple screen

44
Q

Aneuploidy
One of the most common

A

Abnormality of chromosomes number
Down syndrome

45
Q

Trisomy
Most common types

A

Additional chromosome 47
Trisomy 18 Edward syndrome
Patau trisomy 13
Down syndrome 21

46
Q

Triploidy

A

Additional set of chromes 69

47
Q

Dominant disorder

A

By single defective gene (autosomal dominant)
From one parent
Inheritant dominant disorder 50%

48
Q

Recessive disorder
Autosomal recessive

A

By pair of defective genes
One inherited from each parent
25%

49
Q

Autosomal recessive example

A

Infantile polycystic kidney disease

50
Q

X linked disorders

A

By boys from mothers
Affected males not to son
But to daughters
50%

51
Q

In an affected family affected females

A

Must have an affected father

52
Q

X-linked gene

A

Aqueductal stenosis

53
Q

Multi factorial condition

A

Abnormal event because of interaction of one or more genes and environment factors

54
Q

Example of multifactorial disorder

A

Anencephaly

55
Q

Mosaicism

A

Gene mutation
Chromosomal abnormality
In portion of individuals cells

56
Q

Nuchal translucency

A

Abnormal fluid collection behind feral back strongly aneuploidy
Î with gestational age

57
Q

Î nt associated with incidence of

A

Cardiac
Diaphragmatic
Renal
Abdominal wall anomalies
Spontaneous miscarriage
Perinatal death

58
Q

Second most common chromosomal trisomy

A

Trisomy 18
Edwards
Extra chromosome
abnormal quadruple screen
Often spontaneously about
Retarded
Lethal anomaly

59
Q

Trisomy 13

A

Parau’s syndrome
Extrachramose 13
80% dying first month
Lethal anomaly

60
Q

Triploidy

A

Complete extra set of chromosome
Lethalcondition

61
Q

Turner’s syndrome

A

45 x
Absence of x or y chromosome
Î AFP MS when cystic hygroma
Cardiac anomaly
HydroPS
lymphedema
Renal anomalies
Horseshoekidnen
Renal genesis
Hydronephrosis
Hypoplastic kidney
Short femurs

62
Q

Cardiac anomalies in Turner’s syndrome

A

Coarctation of aorta
Ventricular septal defect
Tetralogy Fallot

63
Q

Trisomy 13
Definitely symptoms

A

Holoprosen cephaly
Single ventricle splaying of cerebella r hemisphere
Fused eyes cyclops
Proposcis

64
Q
    1. MSAFP results are reported in the following unit of mi
      A. Lectin/sphingomyelin (L/S)
      B. Positive predictive value (PPV)
      C. Multiples of the median (MoM)
      D. Phosphatidy] glycerol (PG)
      E. Acetylcholinesterase (ACHE)
A

C

65
Q
    1. Which of the following is not associated with an elevated MSAF
      A. Abdominal wall defects
      B. Fetal demise
      C. Hydatidiform mole
      D. Maternal renal abnormalities
      E. Multiple gestation
A

C

66
Q

D 197. Which of the following is NOT associated with a decreased MS
A. Death of the fetus
B. Underestimation of gestational age
C. Missed abortion
D. Gastrointestinal obstruction
E. Hydatidiform mole

A

D

67
Q

A 198. Acetyl cholinesterase (ACHE) is most specific for which of the following?
A. Spina bifida
B. Down’s syndrome
C. Trisomy 13
D. Trisomy 18
E. Triploidy

A

A

68
Q

E 200. Which of the following is/are standardly used to determine fetal lung maturity?
A. L/S (lecithin/sphingomyelin)and PG (phosphatidy|glycerol)
B. ACHE (acetyl cholinesterase)
-
C. Amniocentesis
D. A and B
E. A and C

A

E

69
Q

I. The risk of complications is highest for:
A. Amniocentesis
B. CVS (chorionic villus sampling)
C. PUBS (percutaneous umbilical blood sampling)
D. A and B
E. B and C

A

C

70
Q

‘B 202. For best results, the optimal gestational age for karyotyp. Amniocentesis
A. 12-13 weeks
B. 15-16 weeks
C. 18-20 weeks
D. 22-24 weeks
E. 26-28 weeks

A

B

71
Q
  1. At what gestational age are chorionic villus sampling procedures con performed?
    A. 5-7 weeks
    B. 7-9 weeks
    C. 10-12 weeks
    D. 15-16 weeks
    E. 17-18 weeks
A

C

72
Q

B 206. Which of the following statements is TRUE for an x-linked disease:
A. The mother must have the disease in order to pass it on to her childrer
B. The father must have the disease in order to pass it on to his children.
C. It is an autosomal dominant disorder.
D. 100% of all female offspring will have the disease process.
E. None of the above

A

B

73
Q



A
74
Q

% Chorionic Villus Sampling
•

A

CVS is ultrasound directed biopsy of placenta o villi (chorion frondosum).
Chorion frondosum is active trophoblastic tissu becomes the placenta.
• Because chorionic villi are fetal in origin, chrom abnormalities may be detected when cells from grown and analyzed.

75
Q

21 Amniocentesis

A

© Test offered to patients at risk for chromosomal abnormalit or biochemical disorder that may be prenatally detectable
© Results available in 1 to 3 weeks
© If rapid results desired, fluorescence in situ hybridization (FISH) provides limited analysis within 24 hours.
FISH assay most commonly evaluates for numeric abnormalities of chromosomes 21, 13, 18.

76
Q

or ofered to patrents at risk for chromosomal or blochemical disorder that may be prenatally de
© Results avalable in : to 3 weeks
• If rapid results desired,

A

fluorescence in situ hybr (FISH) provides limited analysis within 24 hour FISH assay most commonly evaluates for nun abnormalities of chromosomes 21, 13, 18.

77
Q

Alpha-fetoprotein

A

• Monitoring of AFP is screening test for neural tube defects and other conditions.
@Evaluation usually based on 2.0 to 2.5 multiples of median (MOM); false positives occur
© MSAFP screening detects 75% to 90% of open neural tube defects and may also detect up to 85% of abdominal wall defects.

78
Q

clenched fetal fist is commonly associated with which of the following syndromes?
a. Patau
b. Down
c. Edward
d. Eagle-Barrett
. Anasarca is a condition often seen in

A

C

79
Q

c. Meckel-Gruber
d. Beckwith-Wiedemann
5. Twin-twin transfusion syndrome generally demonstrates:
a. fetal hydrops in the donor twin
b. polyhydramnios in the amniotic cavity of the donor twin
c. a minimum fetal weight discordance of 20%
d. oligohydramnios in the amniotic cavity of the receiving twin

A

C

80
Q

Duodenal atresia is typically documented in one third of cases of:
a. fetal hydrops
b. Down syndrome
c. Edward syndrome
d. Eagle-Barrett syndrome

A

B

81
Q

Preterm labor is defined as the onset of labor before:
a. estimated due date b. 40 weeks’ gestation c. 38 weeks’ gestation d. 37 weeks’ gestation

A

D

82
Q

What sonographic finding confirms the presence of a diamniotic pregnancy?
a. two yolk sacs
b. two placentas
c. two allantoic ducts d. two gestational sacs

A

D

83
Q

Fetal hydrops resulting from fetal tachycardia most commonly demonstrates a fetal heart rate of: a. 120 to 200 beats per minute
b. 160 to 180 beats per minute
c. 200 to 240 beats per minute
d. 250 to 300 beats per minute

A

C

OBSTETRIC PATHOLOGY (7 decks)

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