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SCREENING DAN DIAGNOSISDOWN SYNDROME PADA
KEHAMILAN
Arga Aditya &Zaras Yudhistira Saga
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Human Chromosome
22 pairs of autosome and 1 pairs of gonosom
– Female
o44A + XX
• 22AA + X
• 22AA + X
– Male
o44A + XY
• 22AA + X
• 22AA + Y
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Down Syndrome
Down syndrome (trisomy 21) is the most
commonly recognized genetic cause of mentalretardation. The risk of trisomy 21 is directly
related to maternal age.
Patients who will be 35 years or older on their due date should
be offered chorionic villus sampling or second-trimesteramniocentesis. Women younger than 35 years should be
offered maternal serum screening at 16 to 18 weeks of gestation.
The maternal serum markers used to screen for trisomy 21 are alpha-
fetoprotein, unconjugated estriol and human chorionic gonadotropin.The use of ultrasound to estimate gestational age improves the
sensitivity and specificity of maternal serum screening
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Frequency of Dysmorphic Signs
in Neonates with Trisomy 21
Dysmorphic sign Frequency (%)
Flat facial profile 90
Poor Moro reflex 85
Hypotonia 80
Hyperflexibility of large joints 80
Loose skin on back of neck 80
Slanted palpebral fissures 80
Dysmorphic pelvis on radiographs 70
Small round ears 60
Hypoplasia of small finger, middle phalanx 60
Single palmar crease 45
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Down Syndrome
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Complications in Persons
with Down Syndrome
Disorder Incidence (%)
Mental retardation and Growth retardation > 95
Early Alzheimer's disease Affects 75% by age 60
Congenital heart defects 40
Hearing loss (related to otitis media with effusion or
sensorineural)
40 to 75
Ophthalmic disorders (congenital cataracts, glaucoma,
strabismus)
60
Epilepsy 5 to 10
Gastrointestinal malformations (duodenal atresia,
Hirschsprung disease)
5
Hypothyroidism 5
Leukemia 1
Atlantoaxial subluxation with spinal cord compression < 1
Infertility 99% in men
anovulation in 30% of women
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Pregnancy With Down Syndrome Risk Factor
• Maternal Age
– As a woman’s ovum age, there is a higher risk of thechromosomes dividing incorrectly.
•Previous child with Down syndrome – first child with Down syndrome have a slightly
increased risk (about 1%) of having a second childwith Down syndrome.
•A carrier parent – Parents who are carriers of the genetic translocation
for Down syndrome have an increased risk dependingon the type of translocation, therefore prenatal
screening and genetic counseling are important.
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Screening And Diagnostic Test
In High Risk Pregnancy Women
• Screening
– Genetic History
– Maternal Blood
– Fetal cell
– Ultrasound
• Diagnostic
– Amniocentesis•
performed after week 15. – Chorionic villus sampling (CVS)
• performed between the 9th and 14th week.
– Percutaneous umbilical blood sampling (PUBS)• performed after week 18.
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Prenatal Risk Factor
Assessment
Advanced
Maternal AgeMaternal Serum
Screening
First TrimesterScreen
SecondTrimesterScreen
Quad Marker
Screen
Triple Screen
Ultrasound
Assessment
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Ultrasound Assessment
An estimate of gestational age by ultrasoundexamination improves the performance of thetriple test.
The use of ultrasound was found to raise the
sensitivity of the triple test from 60 percent to 74percent and to decrease the initial false-positive
rate from 9 percent to 5 percent
The biparietal diameter provides the best gestational age
estimate for this purpose. Femur length and composite
estimates derived from it should not be used, becauseunderestimates the gestational age of fetuses with trisomy 21
Second-trimester ultrasound assessment may be helpful for
predicting the likelihood of trisomy 21 in pregnancies at
increased risk
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Ultrasonographic Findings Associated
with Fetal Down Syndrome
Intrauterinegrowth restriction
Mild cerebralventriculomegaly
Choroid plexuscysts
Increased nuchalfold thickness
Cystic hygromasEchogenic
intracardiac fociCongenital heart
defectsIncreasedintestinal
echogenicity
Duodenal atresia(“double-bubble
sign”)
Renal pelvis
dilation
Shortenedhumerus and
femur
Increased iliac
wing angle
Incurving
(clinodactyly) and
hypoplasia of the
fifth finger
Increased space
between first and
second toes
Two-vessel
umbilical cord
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Nuchal Translucency
• The measurement is gestational-age dependent; on average, itincreases 15 to 20 percent perweek
• Setection rate approximately 70to 71 percent for Downsyndrome, with a 3.5 to 5percent false-positive rate
• Increased nuchal translucency of greater than 3.5 mm isassociated with:
– major congenital heart defectsand defects of the great vessels
– fetal malformations, dysplasias,deformations, and disruptions
– genetic syndromes
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• Nuchal translucency refersto an ultrasonographicsonolucency in theposterior fetal neck (nuchal)
• The most commonultrasonographic findingassociated with trisomy 21is increased nuchal fold
thickness• which is caused by
subcutaneous edema at thebase of the occiput
Nuchal Translucency
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Advanced Maternal Age
Estimated risk of Down syndrome
according to maternal age
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FIRST-TRIMESTER SCREENING
• Ultrasound measurement of nuchal translucency has beenstudied alone and in combination with new biochemical
markers as a potentially useful first-trimester screening test
for trisomy 21
–
maternal age and measurement of nuchal translucencycould provide a trisomy 21 detection rate of 63 percent,
with a 5 percent false-positive rate
– Pregnancy-associated plasma protein A (PAPP A) could
increase the detection rate to 80 percent
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Second-Trimester Screening
Serum Screening
triple screen
quadruple screen
Ultrasonography
Combined First- andSecond-Trimester S
creening
Integrated Screeing
Integrated screening involves PAPP-Aand nuchal translucency testing in the
first trimester and the quadruplet screenin the second trimester
Stepwise Sequential
Screening
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Triple Screening
•Alpha-fetoprotein (AFP), unconjugated estriol and humanchorionic gonadotropin (hCG) are the serum markers most
widely used to screen for Down syndrome.
• With trisomy 21, second-trimester maternal serum levels of
AFP and unconjugated estriol are about 25 percent lowerthan normal levels and maternal serum hCG is
approximately two times higher than the normal hCG level
• The triple test is usually performed at 15 to 18 weeks of
gestation
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Procedures for Prenatal Genetic Diagnosis
Diagnostic procedureGestational age when
test is done (weeks)Risk of fetal loss (%)
Chorionic villus sampling 10 to 12 0.5 to 1.5
Early amniocentesis 12 to 15 1.0 to 2.0
Second-trimester
amniocentesis15 to 20 0.5 to 1.0
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Chorionic Villus Sampling • It entails sampling of the chorionic villus (placental tissue) and
testing it for chromosomal abnormalities, usually with FISH or PCR.
• CVS usually takes place at 10 –12 weeks' gestation, earlier than
amniocentesis (14 –16 weeks).
• It is the preferred technique before 15 weeks
• There are two approaches to CVS: transabdominal and transcervical
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Chorionic Villus Sampling
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Amniocentesis
• a needle is inserted into the amniotic sac using ultrasound
guidance, and amniotic fluid is aspirated
• The fetal loss rate associated with amniocentesis is often reportedto be 1 percent
• Complications are uncommon, but may include vaginal spotting,amniotic fluid leakage, chorioamnionitis, failure of fetal cells to
grow in culture, fetal needle injury, and fetal loss
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Percutaneous umbilical
blood sampling
• a needle is inserted into the
umbilical cord using ultrasound
guidance, and fetal blood isaspirated
• Percutaneous umbilical
blood sampling also called
Cordocentesis• performed after week 18.
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Treatment
• There is no medical cure for Down syndrome.
• However, children with Down syndrome would
benefit from early medical assistance and
developmental interventions beginning duringinfancy.
• Children with Down syndrome may benefit from:
– speech therapy – physical therapy
– occupational therapy.
– special education and assistance in school.
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Treatment
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Treatment
• Discovering that child has Down syndrome can be scary anddifficult. Three actions can be helpful in coping with thisnew situation: – Assemble a team of professionals –Find a team of health care
providers, teachers and therapists that you trust to work with
you in providing the best care. – Seek out other families - Support from those who have had
similar experiences with a Down syndrome child can be verybeneficial. These support groups can be found through localhospitals, physicians, schools and the Internet.
–
Don’t believe the myths about Down syndrome – Immensestrides have been made in recent years with people who haveDown syndrome. Most live with their families, go to mainstreamschools and have various jobs as adults. People with Downsyndrome can lead fulfilling lives.
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The reasons
to test or not test
BENEFIT
• Begin planning for a child
with special needs
•Start addressing anticipatedlifestyle changes
• Identify support groups and
resources
•Make a decision aboutcarrying the child to term
WEAKNESS
• They are comfortable with
the results no matter what
the outcome is• Because of personal, moral,
or religious reasons, making
a decision about carrying
the child to term is not an
option
• Risk of harming the
developing baby
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They can make it
Picture of Paula Sage, a Scottish film and TV actress receiving her BAFTA award
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They can make it
International Down's Syndrome swimmer
Andy Banks takes the Olympic Torch through Melton
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THANKYOU