ppt on how to frame questions for a panel on Screening for fetal aneuploidy with a multidisciplinary approach

1. Screening for Fetal Aneuploidy
PANEL
DISCUSSION

2. dr. poonam loomba MD (O&G)
dr. priya selvaraj
md mnams mce
MODERATORS
loombapoonam@gmail.com

3.  Whom to screen and when to screen?
 Types of screening tests available
 Relevance of different screening tests and their
components
 Screening of multiple pregnancies and limitations
of the available screening tests
 NIPT/NACE and CVS/Amniocentesis
TAKE HOME POINTS

4.  What is the current incidence of fetal
aneuploidy in assisted conceptions -IUI and
IVF?
 Is it increased compared to natural
OPEN QUESTION

5.  In ART programs the incidence of
aneuploidies according to studies are not
significantly increased in techniques employed
such as IMSI versus ICSI, 76% vs. 71%.
INCIDENCE
Reference:
Daniel Luna et al . The IMSI Procedure Improves Laboratory and Clinical Outcomes
Without Compromising the Aneuploidy Rate When Compared to the Classical ICSI
Procedure. Clin Med Insights Reprod Health. 2015; 9: 29–37.

6. MA: Maternal age
NT: Nuchal translucency
NB: Nasal bone
TR: Tricuspid
regurgitation
DV: Ductus Venosus
SOFT MARKERS

7. ABSENT NASAL BONE

8. ACRANIA

9. ABERRANT RIGHT SUBCLAVIAN
ARTERY (ARSA)

10. CHOROID PLEXUS CYST

11. CYSTIC HYGROMA

12. MEGA CYSTIS

13. OMPHALOCELE

14. PRENASAL EDEMA

15. Double Screening
 Beta HCG
 PAPP-A
Triple Screening
 Alpha Feto-protein
 Unconjugated Estradiol
 Beta HCG
DOUBLE SCREENING VERSUS TRIPLE
SCREENING- COMPONENTS AND
EFFECTIVENESS?

16.  A possibly heritable condition in one (or both) of the
couple
 A history of infertility
 History of recurrent pregnancy loss
 A family history of one or more possibly heritable
conditions
 The couple is from a population group with a high
frequency of certain genetic diseases
 The couple is in a consanguineous marriage
 Advanced age
 The couple is anxious about reproductive risks, even
WHEN TO SCREEN ?

17.  When is the best time (Weeks Vs CRL) to screen
during early pregnancy?
 What are the clinical criteria?
 Ultrasound criteria?
 Diagnostic lab criteria for markers?
OPEN QUESTION

18.  First trimester screening for trisomy 21 in twin
pregnancies is both theoretically possible and
practically achievable using a combination of
nuchal translucency thickness and maternal serum
biochemistry.
 The dilemmas for the mother and health
professionals when both nuchal translucency
thickness measurements are normal, might
suggest that greater reliance be placed on the
nuchal translucency thickness risk alone when
counseling women about invasive testing.
SCREENING IN MULTIPLE PREGNANCIES

19.  What is the eligibility criteria for a sonologist for
performing NT test?
 What is the best week to perform NT testing?
 Its reliability, Sensitivity and Specificity
QUESTION

20.  Role of NIPT / NACE
in current scenario Vs
Amniocentesis.
 When and how do we
decide?
OPEN QUESTION

21. The Disability Rights
 When should we offer MTP for our
patients?
 Should a mother’s informed choice be
upheld or not?
LEGAL CASE SCENARIOS

22.  What is the set medical
gestational age for safe
termination?
 What is the real viability
status of babies in Indian
scenario between 25-27
weeks?
LEGAL CASE SCENARIOS

23. THANK YOU
DEAR
PANELISTS & AUDIENCE