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NICE 1

6

- Open Neural Tube Defects (=ONTDs) - efficient

SOCG

ACOG

the American Congress of Obstetricians = ACOG - The Society of Obstetricians and Gynecologists of Canada (= SOGC) 3 - Canadian College of Medical Genetics (=CCMG) 4 - the UK National Institute for Health and Clinical Excellence (=NICE) 2

5

CCMG


ACOG

NT

1

- cost effecitvie


MoMs

MoMs MoM MoM

MoMs

AFP

MoM

AFP AFP MoM

1

- Multiple of Median (=MoM) - Median 3 - Radio Immuno Assay (=RIA) 4 - ELISA 2


OAPR

n

OAPR OAPR

OAPR

PAPP-A Free hCG

(NT)

OAPR

Free hCG

(NT)

(13W+6D)

PAPP-A

(11W+0D)

12W+0D 13W+3D

NT

OSCAR

1

- Odds of being Affected given a Positive Result (=OAPR) - Positive Predictive Value (=PPV) 3 - First Trimester Screening (=FTS) 2

4

- One Stop Clinic for Assessment of Risk (=OSCAR)


OAPR

(11W+0D) MoMs

MoMs

CVS

NT

1

- Mahalanobis distance - screen positive 3 - Chorionic Villus Sampling (=CVS) 4 - fetal transverse limb abnormality 5 - micrognathia 6 - microglossia 2

7 8

- exomphalos - ossification


NT NT NT

NT NT CRL

(13W+6D)

CRL

CRL

NT

NT NT

NT NT

NT

NT

NT

NT NT NT NT

CRL

6

- mid - sagital - Neutral 8 - flexed position 9 - hyperextended position 10 - Calipers 11 - inner to inner 7

1

- nuchal edema - Nuchal Translucency (=NT) 3 - transabdominal 4 - transvaginal 5 - Crown Rump Length (CRL) 2


BCPGSP

NT

NT

NT NT NT X

45.XO NT NT NT

NT CRL

CRL NT NT NT NT

NT

NT NT

NT 1 2

- BC Prenatal Genetic Screening Program (=BCPGSP) - skeletal dysplasia

NT


PAPP-A (low risk)

PAPP-A AFP MoM NTDs

AFP IGF

NT IGF IGF NT

Free hCG

hCG NT hCG

Free hCG

hCG

BCPGSP

(high risk)

(borderline risk)

4

- translocation - deletion 6 - insertion 7 - inversion 8 - unbalanced chromosomal complement 5

1

- insulin growth factor (=IGF) - Chorionic Villus Sampling (=CVS) 3 - sequential 2


NT MoM

Free hCG MoM

PAPP-A MoM

(14W+0D) (22W+6D)

15W+2D 17W+0D

HIV

AFP (AFP) HIV

AFP

ICSI1

IVF

hCG (hCG) mIU/ml mIU/ml hCG Inhibin A

uE3 hCG AFP

uE3 (uE3)

1

- Intra Cytoplasmic Sperm Injection(=ICSI)


Inhibin A (DIA) Inhibin A

PAPP-A

Free

A

hCG NT

B

hCG uE3 AFP

Inhibin A

PAPP-A NT

NT

(high risk)

NT

LMP

4

1

5

2

- independent - stepwise 6 - contingent

- integrated tests - serum integrated 3 - non - discloser


Inhibin A MoM

uE3 MoM

hCG MoM

AFP MoM

IUGR1 LMP

IUGR

(low risk) (MoM

3.0) hCG (MoM

(MoM

0.4)

uE3

(low risk)

(high risk)

1 2

- Intra Uterine Growth Restriction (= IUGR) - choroids plexus

(MoM

2.5)

AFP

3.0) Inhibin

A


(NTDs) uE3

PAPP-A

hCG

AFP

NT (IDDM)

uE3

AFP

Free hCG PAPP-A NT

hCG

IVF uE3

IVF

Inhibin A AFP hCG

NT AFP PAPP-A

hCG Inhibin A

NT

PAPP-A Free hCG

AFP 1 2

- false positive rate - ethnic origin


CSF NF IUGR

BCPGSP 6

- nuchal thickness - renal calyceal dilation 8 - cystic hygroma 9 - clinodactyly 10 - duodenal atresia 11 - hypopastic or absent mid phalanx of the fifth digit 12 - sandal gap 13 - abnormal wave in ductus venosus 14 - cisterna magna 15 - Cerebro Spinal Fluid (=CSF) 16 - facial cleft 17 - single umbilical artery 18 - overlapping fingers 19 - rocker bottom feet 7

1

- prior risk - likelihood ratio 3 - isolated echogenic cardiac focus 4 - echogenic bowel 5 - soft markers 2


MoM NT hCG MoM

NTDs

AFP

4

- hypetelorism -hypotelorism 6 - anoophtalmia 7 - cleft lip / cleft palate 8 - open neural tube defects 9 - open spina bifida 10 - myelomeningocele 11 - encephalocele 5

1

- holoprosencephaly - syndactyly 3 - hithch hiker toe deformity 2


Sequential Screen

Full Integrated Screen

First Trimester Combined Screen

Serum Integrated Screen

Quad Screen

NTDs

NT PAPP-A , FBHCG , AFP , HCG , UE3 , DIA

NT , PAPP-A , AFP HCG , UE3 , DIA

PAPP-A , AFP , HCG , UE3 , DIA

NT , PAPP-A , FBHCG

Full Serum First Sequential Integrated Integrated Trimester Screen Screen Screen Screen

AFP , HCG, UE3 , DIA

Quad Screen

SLO uE3 AFP MoMs

MoM

SLO SLO

SLO

SLO

1

- closed NTDs - lipomyelomeningocele 3 - lipomeningocele 4 - tethered cord 5 - Smith Lemli Opitz 2


IUGR

IUFD

IUGR

PAPP-A

NTDs Free hCG

Free hCG

NT

X PAPP-A

Free hCG

(MoM<0.25) PAPP-A

IUGR PAPP-A

Free hCG MoM 0.5 MoM 0.4 PAPP-A

4

- Intra Uterine Fetal Death (= IUFD) - abnormal maternal uterine artery Doppler 6 - impaired placental function 7 - small for gestational function 8 - Spencer 5

1

- microphthalia - anophthalmia 3 - Peter anomaly 2


(MoM>2.0) PAPP-A

Free hCG PAPP-A

AFP AFP AFP

NTDs

AFP AFP MoM

AFP

AFP AFP MoM AFP MoM

AFP

AFP MoM AFP MoM

AFP

uE3

AFP MoM MoM

AFP AFP AFP

1

- spontaneous reduction - vanishing twin 3 - fetal structural anomalies 4 - ventral or abdominal wall defects 5 - gastroschisis 6 - omphalocele 7 - teratoma 8 - Cystic hygroma 2


AFP hCG (MoM>3.0)

AFP IUGR

AFP AFP AFP

AFP AFP AFP MoM

IUFD IUGR AFP MoM (IUGR)

AFP HCG MoM<0.5

AFP (MoM<0.25) AFP

MoM>2.5 AFP IUGR

AFP AFP IUFD

1 10

- antepartum bleeding 11 - prematurity 12 - uterine artery Doppler 13 - transabdominal multifetal reduction 14 - macrosomia 15 - placenta previa 16 - placenta accrete 17 - placenta increta

- choriocangioma -choriocarcinoma 3 - Preterm Rupture of Membranes (=PROM) 4 - preterm delivery or labor or birth 5 - low birth weight 6 - Katz 7 - Haley 8 - abruption placenta 9 - oligohydroamnious 2


AFP

AFP AFP AFP

AFP hCG MoM

hCG

hCG MOM

hCG

HELLP 70 IU/L hCG (MoM 2.0-4.0) hCG LBW IUGR

hCG (MoM=>3.0) hCG hCG IUGR

hCG IUGR hCG

1 6

mole hydatiform 7 - Walton 8 - hemolysis , elevated liver enzymes and low platelets 9 - Fragmin

- placenta percreta - morbidity 3 - asphyxia 4 - sudden infant death syndroma 5 - maternal hypertension or pregnancy induced hypertension 2


hCG AFP hCG

Rh

hCG B12

IUGR

hCG (MoM < 0.5) hCG

uE3 LBW

AFP hCG

uE3 Inhibin A (MoM>2.5) Inhibin A

AFP hCG

IUFD IUGR

Inhibin A HIV CD4

Inhibin A (MoM > 2.8) Inhibin A

uE3 (MoM<0.3) Inhibin A HELLP

(MoM<0.5) uE3 X

4

- congenital adrenal hyperplasia (=CAH) - oligohydramnios 6 - steroid sulfatase deficiency 7 - placental aromatase deficiency 8 - uterine artery notching 5

1

- non immune hydrops - protease inhibitors intake 3 - X- linked Ichtyosis 2


REFERENCES 1. Nicolaides KH. Am J. Obstet. Gynecol. 2004; 191 : 45-67. 2. Chitayat D, and et al. JOGC July 2011, 261: 736-50. 3.Buckley F and et al. Down Syndrome Research and Practice. Oct. 2008, 12 (Issue 2): 79-86. 4. Taheri Amin MM, et al. Gamete Scientific Bulletin. Vol 8, No.23 & 15, Summer 2010. 5. Taheri Amin MM, et al. Gamete Scientific Bulletin. Vol 4 , No. 12 , Spring 2007. 6. Taheri Amin MM, et al. Eighth International Congress of International Down s Syndrme Screening Group. (Oral Presentation), Vancouver, Canada, May 2008. 7. pandya PP, and et al. BJOG 1995; 102: 957-62. 8. Cuckle HS, et atl. Ultrasound Obstet. Gynecol. 2007: 19 (4): 323-6. 9. Taheri Amin MM, et al. Sixth International Congress of Fetal Medicine. (Oral Presentation), Cavtat, Croatia, July 2007. 10. Taheri Amin MM, et al. Seventh Internaltional Congerss of International Down s Syndrome Screening Group. (Oral presentation), Amsterdam, Netherlands, May 2006. 11. Spencer K, et al. Prenatal Diagnosis. 2000; 20, 91-5. 12. Hackshaw AK, and et al. Prenatal Diagnosis. 2001; 21, 58-61. 13. Snijders RJM, and et al. Lancel 1998 ; 351:343-6. 14.Dugoff L, et al. Obstet Gynecol, 2005 Aug. 106 (2): 260-7. 15. Gagnon A, et al. JOGC Oct. 2008; 217: 918-32. 16. Hasegawa J, et al . Taiwan J. Obstet. Gynecol, 2006 March; 45 (1) : 21-5. 17. Palomaki GE. Adv. Clin. Chem. 2007; 43: 177. 18. Spencer K. Prenat Diagn, 2008: 28: 7. 19. Karsidag AYK, et a.. JPMA, 2010; 10: 13-5. 20. Dugoff L, et al. Obstet. Gynecol. 2010 May; 115(5): 1052-61. 21. Gagnon A, et al. JOGC Oct. 2008; 217: 918-32. 22. Huang T, et al. Prenat. Diagn. 2010 May; 30 (5): 471-7.

AFP AFP

(MoM>3.0) hCG (MoM>2.5) Inhibin-A (MoM>3.0) (MoM<0.5) uE3 (MoM>0.25)


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