PRENATAL DIAGNOSIS OF CONGENITAL ANOMALIES Flashcards by Unknown Unknown

Genetic testing

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

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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

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Early CVS cause

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

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Amniocentesis common reason

Advanced maternal age

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Indications for amniocentesis

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

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Balanced chromosomal rearrangement
Balanced chromosomal abnormality

Type of chromosomal structural variant
Chromosomal rearrangement
Translocation
Inversions
Insertion

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Early amniocentesis lead to

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

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Optimal collection site forAF

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

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Technique of amniocentesis needle

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

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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

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Avoid placenta in Rh negative

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

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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

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RHoGAM

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

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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

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Invasive procedures

Amniocentesis
Cordocentesis
Chorion villi sampling

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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

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Major protein in fetal serum

AFP

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AFP found

Feral spine
gi tract
Liver
Kidneys

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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

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Common reason for high AFP

Open Spina bifida
anencephaly
Neural tube defects monitoring AFP

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Screening test neural tube defect

Monitoring of AFP

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MSAFP screening detects

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

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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

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Common reason for elevation

Incorrect dates

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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

- 194. 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)

- 196. 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

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 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

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

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

'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

204. 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

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

% 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. 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

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

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

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

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

PRENATAL DIAGNOSIS OF CONGENITAL ANOMALIES Flashcards

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