First Trimester Screening ( FTS )

LifeCell Diagnostics provides early detection screening methodologies for Down’s Syndrome (Trisomy 21), Edwards’ Syndrome (Trisomy 18), Patau Syndrome (Trisomy 13) and Pre- Eclampsia with highest accuracy and confidence.

First Trimester Screening ( FTS )

To ensure a healthy baby, early detection and screening for abnormalities are necessary. The First Trimester Screening involves:

  • The blood test is performed between 10-13 weeks and 6 days of pregnancy (first trimester) and evaluates for Chromosomal Abnormalities and Pre-Eclampsia.
  • An ultrasound test to measure the amount of fluid behind baby’s neck (Nuchal Translucency).

Screening Options

Dual marker screening test assesses the possibility of Down’s syndrome (trisomy 21) and Edward’s syndrome (trisomy 18) in the fetus by analysing the biochemical levels of Free Beta HCG (human chorionic gonadotropin) and PAPP-A (Pregnancy Associated Plasma Protein) in maternal blood.

Combined Screening involves a combination of biochemical markers with biophysical markers (Nuchal Translucency & Nasal Bone) in the first trimester. Combined screening further offers high detection rate for chromosomal abnormalities. It is usually performed after 8 weeks of pregnancy up to 14 weeks.

Markers Free hCGβ + PAPP-A + NT + NB + FHR
Time of test ( in weeks) 11-13+6 weeks
Detection rate ( % ) 95 %
False positive rate ( % ) 3 %

( Reference - S. Shiefa et al., First Trimester Maternal Serum Screening Using Biochemical Markers PAPP-A and Free β-HCG for Down Syndrome, Patau Syndrome and Edward Syndrome; Indian J Clin Biochem. 2013 Jan; 28(1): 3–12.)

Diagnostic Options

Diagnostic tests provide in depth analysis of the chromosomes. They are more invasive than screening tests and detect minute abnormalities which otherwise go undetected. Screening tests simply outline the risks whereas diagnostic tests provide definitive analysis on the possibility of the risk.

LifeCell recommends the following diagnostic tests:

The human body contains genetic information that is bundled into packages called chromosomes. Any change in the genetic combinations, like addition or deletion within chromosomes or of the chromosomes, can cause medical conditions like birth defects, developmental delays, autism and other health issues.

Chromosomal Microarray uses advanced technology to provide detailed genetic testing by detecting both large and small chromosomal change. Through a combination of Copy Number Probes( known as Gains) and SNP probes, CMA is able to detect smaller changes in chromosomes that normally go undetected in a routine genetic analysis.

CMA in Prenatal Settings:

In a prenatal setting, the CMA is used to predict the fetal outcome. CMA offers added advantage over traditional Karyotyping by detecting submicroscopic deletions and duplications that are not detected by smaller resolutions.

CMA is used prenatal diagnosis:

  • If maternal blood tests during pregnancy were abnormal, indicating an increased chance of a medical anomaly or birth defect.
  • If an anomaly was detected on ultrasound.
  • If the mother already has a child with birth defects such as chromosomal changes.
  • In case of Recurrent Pregnancy Loss.
  • In case of advanced maternal age.


CytoScan HD

Cytoscan 750K

Cytoscan Optima

Where to be Used?

High Resolution analysis of CNVs constitutional  post natal samples

Analysis of gains and loss for constitutional post natal samples

Detection of gross aneuploidies at low cost and low resolution

Probe Details

High Density coverage with > 2.6 million probes

CNV Probes = 550,000

SNP Probes = 200,000

Total Probes = 750,000

CNV Probes = 18,018

SNP Probes = 148,450

Total Probes = 315,000

Sample Types

Blood, Buccal Swabs, Saliva, fresh & frozen tissues, uncultured or cultured cells, CVS , Amniocentesis,POC, etc.

Blood, Buccal Swabs, Saliva, fresh & frozen tissues, uncultured or cultured cells, CVS , Amniocentesis,POC, etc.

Blood, Buccal Swabs, Saliva, fresh & frozen tissues, uncultured or cultured cells, CVS , Amniocentesis,POC, etc.

Analytical Claims

Gains  < 10-25 Kb

Losses < 10-25 kb

AOH> 1mb

Mocaissim > ~ 15%

Gains  200-400 kb

Losses  200-400 kb

AOH> 5 mb

Mocaissim > ~ 15-20%

Gains  2 mb

Losses  1 mb

AOH> ~5 mb

Mocaissim > ~ 20%

396 genes at 25m/100kb

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