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Screening for fetal aneuploidy

The document is a panel discussion on screening for fetal aneuploidy, addressing who should be screened and when, as well as types of available screening tests and their components. It emphasizes the relevance of measures like NIPT and amniocentesis, with discussions on the incidence of aneuploidy in assisted conceptions, eligibility criteria for screenings, and the dilemmas faced by mothers and health professionals. Additionally, it raises questions about maternal choice and legal considerations regarding medical termination of pregnancies.

Health & Medicine◦
Screening for Fetal Aneuploidy PANEL DISCUSSION
dr. poonam loomba MD (O&G) dr. priya selvaraj md mnams mce MODERATORS loombapoonam@gmail.com
 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
 What is the current incidence of fetal aneuploidy in assisted conceptions -IUI and IVF?  Is it increased compared to natural OPEN QUESTION
 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.
MA: Maternal age NT: Nuchal translucency NB: Nasal bone TR: Tricuspid regurgitation DV: Ductus Venosus SOFT MARKERS
ABSENT NASAL BONE
ACRANIA
ABERRANT RIGHT SUBCLAVIAN ARTERY (ARSA)
CHOROID PLEXUS CYST
CYSTIC HYGROMA
MEGA CYSTIS
OMPHALOCELE
PRENASAL EDEMA
Double Screening  Beta HCG  PAPP-A Triple Screening  Alpha Feto-protein  Unconjugated Estradiol  Beta HCG DOUBLE SCREENING VERSUS TRIPLE SCREENING- COMPONENTS AND EFFECTIVENESS?
 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 ?
 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
 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
 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
 Role of NIPT / NACE in current scenario Vs Amniocentesis.  When and how do we decide? OPEN QUESTION
The Disability Rights  When should we offer MTP for our patients?  Should a mother’s informed choice be upheld or not? LEGAL CASE SCENARIOS
 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
THANK YOU DEAR PANELISTS & AUDIENCE