PRENATAL DIAGNOSIS OF CONGENITAL ANOMALIES Flashcards
Genetic testing
Chorionic villus sampling
Alternative to amniocentesis
Early in 10 to 14 weeks
The results available within one week
US BEFORE SAMPLING TO DETRIMENT
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
Early CVS cause
Prior to 9 weeks
Cause birth defects in the limbs
Missing fingers and toes
Malformation of tongue and jaw
Amniocentesis common reason
Advanced maternal age
Indications for amniocentesis
History of balanced rearrangement of choromosomes in parent or previous child
Abnormal AFP
Abnormal triple screen
Fetus with congenital anomaly
Balanced chromosomal rearrangement
Balanced chromosomal abnormality
Type of chromosomal structural variant
Chromosomal rearrangement
Translocation
Inversions
Insertion
Early amniocentesis lead to
15 and 20 weeks
As early as 12 weeks
Fetal scoliosis
Club foot
Reduced amount of AF
Optimal collection site forAF
Away from fetus
Away from central portion of placenta
Away from umblicalcard
Near maternal midline to avoid maternal vessels
Technique of amniocentesis needle
Do not angle the needle
Needle parallel to the td tip of needle can be seen
Amniocentesis and multiple gestations
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
Avoid placenta in Rh negative
Rohgam should be injected to all negative RH within 72 hours
Rh incompatibility
Level of bilirubin may range from
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
RHoGAM
Immunoglobulin used for prevent Rh D in mothers who are Rh negative
Cordocentesis
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
Invasive procedures
Amniocentesis
Cordocentesis
Chorion villi sampling
Alpha-fetoprotein
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
Major protein in fetal serum
AFP
AFP found
Feral spine
gi tract
Liver
Kidneys
AFP reaches to maternal circulation
Through
Through AF by fetal
Urination and membranes
,AF - AFP amniotic fluid
FS-AFP feral serum
MS-AFP maternal serum
Common reason for high AFP
Open Spina bifida
anencephaly
Neural tube defects monitoring AFP
Screening test neural tube defect
Monitoring of AFP
MSAFP screening detects
75% to 90% open neural defects
85% abdominal wall defects
MSAFP Peak from
MS AFP with G age
AF AFP with G age
15-to 18 weeks
Increase with gestational age
Af decreasewith age feral
Common reason for elevation
Incorrect dates
Reasons for elevation AFP
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
Multiple gestation with death of co-towin
Fetus papyraceous
One-acardiac twin
AFP Î
Extremes high AFPare excreted by kidneys in
Congenital nephrosis
Placental lesions AFP î
Hemãto angioma
Hematoma
Chorinangiamas
Problem in severely sensitized fetus with Rh
Heart failure because of severe anemia
Eligohydramnios may have
Higher concentration of AFP bcs there is less fluid to diffuse protein
Low AFP
Trisomy 21
18 13
Incorrect date
Feral death
Hydatidiform form moles,
Spontaneous abortion
Non pregnant state
More specificfor detecting level ofAFP
AF AFP
Specific for detecting an open neural tube
Acetylcholine esterase
Beyond 20 weeks
Because AFP is no langer sensitive
Quadruple screen
Prendial Test measure levels of four substances in woman’s blood
AFP
HCG
ESTRIOL
INHIBIN A
Triple test
Triple screen
Biochemical screening test combines 3 serum marker
AFP
HCG
UNCONJUGATED estriol
Improve Detect trisomy 21 over MSAFP testing alone
Biochemical screening in trisomy 21 reveals
High hCG
AFP decrease
ESTRIOL ↓
Trisomy 18
Edward syndrome
HCG ↓
AFP DECREASE
EstriOL decrease
Improving sensitive in detecting Down syndrome
INHIBIN A
First trimester serum marker detect anomalies
PAPPA A
Trophoblastic tissue
Increase in maternal serum through pregnancy
PAPPA A levels in aneploidy
Decrease
In first trimester as sensitive screening test for Down syndrome
Free B hCG
PAPPA
Nuchal translucently
Bhc in first trimester for
Down syndrome
PAPPA AND hCG combined with NT
DETECTION FOR
Down syndrome
Greater than or equal to qudraple screen
Aneuploidy
One of the most common
Abnormality of chromosomes number
Down syndrome
Trisomy
Most common types
Additional chromosome 47
Trisomy 18 Edward syndrome
Patau trisomy 13
Down syndrome 21
Triploidy
Additional set of chromes 69
Dominant disorder
By single defective gene (autosomal dominant)
From one parent
Inheritant dominant disorder 50%
Recessive disorder
Autosomal recessive
By pair of defective genes
One inherited from each parent
25%
Autosomal recessive example
Infantile polycystic kidney disease
X linked disorders
By boys from mothers
Affected males not to son
But to daughters
50%
In an affected family affected females
Must have an affected father
X-linked gene
Aqueductal stenosis
Multi factorial condition
Abnormal event because of interaction of one or more genes and environment factors
Example of multifactorial disorder
Anencephaly
Mosaicism
Gene mutation
Chromosomal abnormality
In portion of individuals cells
Nuchal translucency
Abnormal fluid collection behind feral back strongly aneuploidy
Î with gestational age
Î nt associated with incidence of
Cardiac
Diaphragmatic
Renal
Abdominal wall anomalies
Spontaneous miscarriage
Perinatal death
Second most common chromosomal trisomy
Trisomy 18
Edwards
Extra chromosome
abnormal quadruple screen
Often spontaneously about
Retarded
Lethal anomaly
Trisomy 13
Parau’s syndrome
Extrachramose 13
80% dying first month
Lethal anomaly
Triploidy
Complete extra set of chromosome
Lethalcondition
Turner’s syndrome
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
Cardiac anomalies in Turner’s syndrome
Coarctation of aorta
Ventricular septal defect
Tetralogy Fallot
Trisomy 13
Definitely symptoms
Holoprosen cephaly
Single ventricle splaying of cerebella r hemisphere
Fused eyes cyclops
Proposcis
- 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)
- MSAFP results are reported in the following unit of mi
C
- 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
- Which of the following is not associated with an elevated MSAF
C
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
D
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
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
E
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
C
‘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
B
- 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
C
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
B

% Chorionic Villus Sampling
•
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.
21 Amniocentesis
© 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.
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,
fluorescence in situ hybr (FISH) provides limited analysis within 24 hour FISH assay most commonly evaluates for nun abnormalities of chromosomes 21, 13, 18.
Alpha-fetoprotein
• 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.
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
C
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
C
Duodenal atresia is typically documented in one third of cases of:
a. fetal hydrops
b. Down syndrome
c. Edward syndrome
d. Eagle-Barrett syndrome
B
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
D
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
D
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
C
