DIAGNOSIS DOWN

SYNDROME
PRESENTED BY: ROBERTO DANIEL H. HUTAPEA
120650024

Department of obstetric and gynaecology

Faculty of medicine, Christian university of Indonesia, jakarta
 INTRODUCTION
• DOWN SYNDROME, A DNA DISORDER IN TRISOMY 21 (T21),
SHOWS AN INCREASED PREVALENCE IN PREGNANCY IN
GENERAL POPULATION AS A DIRECT CONSEQUENCE OF
WOMEN'S MARRIAGE DELAYS.

• DATA FROM DEPARTMENT OF CLINICAL BIOCHEMISTRY,

BARKING HAVERING & REDBRIDGE UNIVERSITY HOSPITALS,
UK, STATED THAT THE FREQUENCY OF ABNORMALITIES OF
CHROMOSOME TRISOMY 21 RANGED FROM 1 IN 800 BIRTHS
 INTRODUCTION
• DATA DEPARTMENT OF BIOSTATISTICS,
UNIVERSITY OF CALIFORNIA LOS ANGELES,
USA STATED THAT PREVALENCE OF T21 IS
8.27 / 10.000 POPULATION.

• INCIDANCE RATE IN INDONESIA ?

 INTRODUCTION
• THE PURPOSE OF THIS LITERATURE REVIEW IS TO FIND OUT
THE LATEST INFORMATION ABOUT BIOPHYSICAL AND
BIOCHEMICAL PRENATAL EXAMINATION T21.

• THE FIRST LINE DETECTION FOR T21 IN FIRST TRIMESTER

ACCORDING THE DEPARTMENT OF CLINICAL BIOCHEMISTRY,
BARKING HAVERING & RED BRIDGE UNIVERSITY HOSPITALS,
UK, IS COMBINED FIRST TRIMESTER SCREENING (CFTS)
WITH A COMBINATION OF SERUM MARKER (Β-HCG, PAPP-A)
AND NUCHAL TRANSLUCENCY (NT).
 INTRODUCTION
• MEANWHILE DATA FROM DEPARTMENT OF OBSTETRICS AND
GYNECOLOGY, STANFORD UNIVERSITY , LUCILE PACKARD
CHILDREN'S HOSPITAL, NONINVASIVE PRENATAL TESTING
(NIPT) WITH CELL-FREE DNA (cfDNA) FOR EARLY DETECTION
OF TRIMESTER FIRST TRISOMY 21 WAS OBTAINED A
SENSITIVITY OF 100% WITH FPR OF 0.03%.

• WITH THE VARIOUS RECENT STUDIES, ARE EXPECTED TO

KNOW THE BEST EARLY DETECTION EXAMINATION FOR T21.
DIAGNOSIS SYNDROME DOWN
• DATA FROM THE DEPARTMENT OF CLINICAL BIOCHEMISTRY,
BARKING HAVERING & RED BRIDGE UNIVERSITY HOSPITALS,
UK, STATED THAT COMBINED FIRST-TRIMESTER SCREENING
(CFTS) CONSISTING OF BIOPHYSICAL MARKER (NT), AND
BIOCHEMICAL MARKER (B-HCG AND PAPP-A) CAN DETECT
PREGNANCY WITH T21 DR OF 90% AND FPR OF 5%.

• IN THE SECOND TRIMESTER, SCREENING TESTS ARE

RECOMMENDED WITH A QUADRUPLE TEST CONSISTING OF:
ALPHA-FETOPROTEIN (AFP), TOTAL HCG, UNCONJUGATED
ESTRIOL (U-E3), AND INHIBIN-A WITH DR OF 72%, FPR OF 5%.
• THE STUDY OF THE DEPARTMENT OF OBSTETRICS AND
GYNECOLOGY, STANFORD UNIVERSITY / LUCILE PACKARD
CHILDREN'S HOSPITAL, STANFORD WITH 3,021 STUDY
SUBJECTS OF NONINVASIVE PRENATAL TESTING (NIPT) WITH
CELL-FREE DNA (CFDNA) FOR EARLY DETECTION OF FIRST
TRIMESTER TRISOMY 21 WAS FOUND TO BE 100%
SENSITIVITY WITH FPR OF 0.03%.
• THE STUDY OF MATERNAL FETAL MEDICINE DEPARTMENT,
PAULA-DE-VIGUER HOSPITAL, CHU DE TOULOUSE,
TOULOUSE, FRANCE ON 21 FETUSES WITH T21 COMPARED
WITH 91 NORMAL FETUSES, PRENASAL THICKNESS TO
NASAL BONE LENGTH RATIO (PT / NBL)> 0.98 IS A STRONG
MARKER IN DETECTING T21 IN THE SECOND AND THIRD
TRIMESTERS WITH 88.5% SENSITIVITY AND 100%
SPECIFICITY
• DATA FROM THE DEPARTMENT OF OBSTETRICS,
COPENHAGEN UNIVERSITY HOSPITAL,
RIGHOSPITALET, COPENHAGEN, DENMARK
STATED THAT MISCARRIAGE RISK OF INVASIVE
EXAMINATION: AMNIOCENTESIS AND CVS ARE
0.08% AND 0.56%, RESPECTIVELY. AND HAD AN
ACCURACY UP TO 100%.
DISCUSSION
• RESEARCH FROM DEPARTMENT OF OBSTETRIC AND
GYNECOLOGY, BASKENT UNIVERSITY, ADANA MEDICAL AND
RESEARCH CENTER-SEYHAN BASKENT HOSPITAL, ADANA,
TURKEY, STATED THAT NT> 6MM AS EARLY DETECTION T21
HAD DR 39.4% AND FPR 0.6%. WHEN COMBINED SERUM
BIOMARKERS THERE IS AN INCREASE IN DR TO 87% WITH 5%
FPR.
• DATA FROM DEPARTMENT OF FETAL MEDICINE, MEDWAY
MARITIME HOSPITAL, GILLINGHAM, UK OBTAINED A
COMBINATION OF NT, FETAL HEART RATE (FHR) WITH BIO
MARKER Β-HCG, PAPP-A, AND AFP, HAD DR IN DETECTING
TRISOMY 21 OF 91.8% WITH FPR 2.2%. THE ADDITION OF
PLACENTAL GROWTH FACTOR (PLGF) MARKERSAND
DUCTUS VENOSUS PULSATILITY FOR VEINS (DV PIV)
INCREASED DR BY 93.3% WITH 1.3% FPR.
• STUDY FROM DEPARTMENT OF OBSTETRICS AND GYNECOLOGY,
UNIVERSITY OF TUEBINGEN, TUEBINGEN HOSPITAL, GERMANY
CONDUCTED A RETROSPECTIVE STUDY IN 1916 PREGNANT
WOMEN, FOUND THAT FIRST TRIMESTER EARLY DETECTION
PERFORMANCE BASED ON GESTATIONAL AGE, NT AND
COMBINATION OF ULTRASOUND: NASAL BONE (NB), TRICUSPID
FLOW (TF ) AND DUCTUS VENOSUS (DV) DR WERE 94% AND FPR 3%.
• RESEARCH AT THE DEPARTMENT OF OBSTETRICS AND
GYNECOLOGY, MEDICAL CENTER GRONINGEN, THE
NTEHERLANDS, REPORTED THAT PT / NBL RATIO HAD DR
86.2% WITH FPR 5% FOLLOWED BY PREFRONTAL FACE
RATIO (PFSR) DR OF 79.7% FPR OF 5%.
• DATA FROM MATERNAL FETAL MEDICINE RESEARCH
PROGRAM, MT. SINAI HOSPITAL, UNIVERSITY OF TORONTO,
TORONTO, ONTARIO CANADA ON 144,570 PREGNANT
WOMEN WITH 448 OF WHOM WERE SUSPECTED WITH T21
OBTAINED cfDNA EXAMINATION WITH DR CAN REACH 99%
AND FPR OF 0.1%.
• STUDIES AT THE DEPARTMENT OF OBSTETRICS AND
GYNECOLOGY, UNIVERSITY OF VIENNA, VIENNA GENERAL
HOSPITAL, VIENNA, AUSTRIA REVEALED A FIRST TRIMESTER
EARLY EXAMINATION USING A COMBINATION OF MATERNAL
AGE, WITH cFTS AND cfDNA GAVE DR OF 96.7% AND 1.2%
FPR.
• DEPARTMENT OF OBSTETRICS AND GYNECOLOGY,
PORTSMOUTH NAVAL MEDICAL CENTER, PORSTHMOUTH VA
STATED THAT THE RISK OF MISCARRIAGE AMNIOCENTESIS
(2.1%) IS GREATER THAN CVS (1.2%).
 CONCLUSION
• THE BEST FIRST TRIMESTER BIOPHYSICAL MARKER
EXAMINATION IS COMBINATION OF NT, NASAL BONE (NB),
TRICUSPID FLOW (TF) AND DUCTUS VENOSUS (DV)
ULTRASOUND MARKERS ARE RECOMMENDED WITH DR OF
94% AND FPR OF 3%.

• THE BEST BIOCHEMISTRY MARKER IS CFDNA EXAMINATION

WITH DR OF 99% AND FPR OF 0.1%.

• THE BEST COMBINATION EXAMINATION BETWEEN

BIOPHYSICAL AND BIOCHEMISTRY MARKERS IN DETECTING
T21 IN FIRST TRIMESTER IS cFTS FOLLOWED WITH cfDNA
GAVE DR OF 96.7% AND FPR OF 1.2%.