Down's Syndrome Pada Kehamilan

7/28/2019 Down's Syndrome Pada Kehamilan

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SCREENING DAN DIAGNOSISDOWN SYNDROME PADA

KEHAMILAN

Arga Aditya &Zaras Yudhistira Saga



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



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



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



Down Syndrome



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



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.



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.



Prenatal Risk Factor

Assessment

Advanced

Maternal AgeMaternal Serum

Screening

First TrimesterScreen

SecondTrimesterScreen

Quad Marker

Screen

Triple Screen

Ultrasound

Assessment



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



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



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



• 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





Advanced Maternal Age

Estimated risk of Down syndrome

according to maternal age



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



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



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













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



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



Chorionic Villus Sampling



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



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.



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.



Treatment



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.



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



They can make it

Picture of Paula Sage, a Scottish film and TV actress receiving her BAFTA award



They can make it

International Down's Syndrome swimmer

Andy Banks takes the Olympic Torch through Melton



THANKYOU

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Down's Syndrome Pada Kehamilan