Jurnal Reading 2014

NON INVASIVE
PRENATAL DIAGNOSTIC
Rachmat Mahendra, dr.
INTRODUCTION
Human have 23 pairs of chromosomes
Aneuploidy is an abnormal number of
chromosomes
Trisomy is a type of aneuploidy in which there
are three copies of a chromosome instead of
two
Trisomy 21, 18, 13
 INTODUCTION
Trisomy 21 (Down syndrome) > chromosomal condition
associated with intellectual disability

Trisomy 18 (edward syndrome) > chromosomal condition

associated with slow growth before birth and low birth
weight

Trisomy 13 (Patau syndrome) > chromosomal condition

associated with severe intellectual disability and physical
abnormalities in many parts of the body
DOWN
SYNDROME
Flattened facies

upslanted eyes

downturned mouth

single palmar crease

clinodactyly

sandalfoot toes
 COMPANY

DIAGNOSTIC
TEST
Ulrasound > NT (nuchal
translucency

Blood draw > PAPP-A, fBHCG

CVS performed between 10 to 14

weeks

amniocentesis performed
between 15 and 20 weeks
10 WEEKS AND 16 WEEKS
 COMPANY

NUCHAL
TRANSLUCENCY
Is an ultrasound measurement if
the thickness of fluid behind the
fetal neck

It is a MARKER, not an anomaly in

itself

performed when fetes measures

between 45 and 84 mm ( 11-14
weeks)
11 - 14 WEEKS
COMPANY

INCREASED NT
Choromosome abnormalities (trisomy 21, 18)

fetal cardiac defects

Fetal disorders with altered lymphatic flow

(omphalocoele, diaphragmatic hernia, fetal akinesia
syndromes)
 COMPANY

AMNIOCENTESIS

modern day real time

ultrasound guidance

simultaneous visualization
of needle tip throughout
procedure
 COMPANY

CHORIONIC
VILLUS
SAMPLING
10 to 14 weeks gestation

Abdominal and Trancervical CVS

procedure

Conventional diagnosis CVS or

amniocentesis) can definitively
diagnose fetal trisomies, although
these invasive procedures are
associated with a risk of
misscarriage (Hayes, 2013)
CHORIONIC VILLI 10 TO 14 WEEKS
GESTATION
RISK OF AMNIO VS
CVS
1980s CVS loss rates about 1 % amnio loss rate about
0.5 %

Recent studies suggest that CVS is no more likely than

amniocentesis to cause miscarriage when performed
by an experienced provider
Who should have diagnostic testing ?
CURRENT SCREENING
FOR DOWN SYNDROME
Maternal age
Ultrasound measurement of NT thickness
Maternal serum analytes - free B-HCG
and PAPP-A
THIS ASSESSMENT
HAS 90%
SENSITIVITY AND
95% SPECIFICITY
FOR DOWN
SYNDROME
 COMPANY

ACOG RECOMMENDATION

Maternal age of 35 years alone should no longer be used

as a threshold to determine who is offered screening
versus who is offered invasive testing.

Invasive diagnostic testing for aneuploidy should be

available to all women, regardless of maternal age

ACOG BULETIN 88 , DEC 2007

CELL
FREE
FETAL
DNA
 COMPANY

CELL FREE FETAL DNA

Readily detected in patient plasma

Detected as early as 7 weeks gestation, should not be performed

before 10 weeks

Most cell-free DNA in plasma (85-90%) is maternal, 3-13% is cell free

fetal DNA

concentration range between 3 - 6 % increases with gestational age

Not detected 48 hours postpartum

YOUR SLOGAN HERE

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32

WOMEN NEED TO BE
AWARE THAT NIPT IS NOT
A DIAGNOSTIC TEST.
POSITIF RESULT SHOULD
BE CONFIRMED BY
AMNIOCENTESIS
33

cffDNA testing should not be

offered to low-risk women or
women with multiple gestation
(ACOG,2012)
 HOW MUCH ??

PANORAMA
987 USD
HARMONY
750 USD
THANKS YOU