Second Trimester

When it is about health, it is never too late

When it comes to risk assessment and diagnosis of prenatal aneuploidy and pre-eclampsia, PerkinElmer Genomics offers you a one-stop solution for biochemical screening for every stage of pregnancy – both non-invasive and invasive – to diagnostic testing through cytogenetics, molecular genetics and genetic counseling.

Second Trimester Screening Options

Quadruple Marker Screening

Beneficial for women who have missed first trimester screening and ultrasound, Quadruple Marker Screening in second trimester screens for more number of markers providing reassurance for any possible risk of Down syndrome and other chromosomal abnormalities and also ONTDs (open neural tube defects).

TEST NAME MARKERS GESTATIONAL AGE SAMPLE TYPE
Quadruple Marker Screening Free hCGβ + AFP + uE3 + Inhibin-A 15-21+6 weeks Serum
NIScreen

NIScreen screens for Trisomies 21, 18 and 13 and sex chromosome aneuploidy. It is performed prenatally from the cell-free fetal DNA (cffDNA) circulating in the maternal blood.

  • Uses MPS (massively parallel sequencing) technology delivering a test sensitivity of 99.12%.
  • Additionally screens for Trisomy 9, 16 and 22, deletion syndromes viz., Cri du Chat (5p-), 1 p36, 2q33.1, Prader-Willi/Angelman (15q11.2), 16p12.2, Jacobsen (11q23) and DiGeorge Syndrome II (10p13-14), and genetic disorder viz., VanderWoude (1 q32.2).
  • Tests for twin pregnancies for trisomies 21, 18 and 13 only; egg donor and IVF pregnancies for all trisomy conditions.
TEST NAME GESTATIONAL AGE SAMPLE TYPE
NIScreen (Non-Invasive Prenatal Screening) 11 weeks onwards Serum

Diagnostic Options

FISH (Fluorescent in situ Hybridization)

Identifies targeted regions on chromosomes using specific fluorescent tagged DNA probes thus enabling detection of various numerical and structural chromosomal aberrations.

SAMPLE TYPE Chorionic Villi, Amniotic Fluid, Fetal Blood
Karyotyping

Provides holistic picture of the 23 pairs of chromosome allowing simultaneous examination of all chromosomes.

SAMPLE TYPE Chorionic Villi, Amniotic Fluid, Fetal Blood
BACs-on-Beads®

A novel assay based on PerkinElmer proprietary BACs-on-Beads® technology, BoBs® is a CE-IVD targeted molecular testing for the rapid detection of gains and aberrations of  gains and losses in of DNA with detection level superior to that of conventional Karyotyping.

SAMPLE TYPE Chorionic Villi, Amniotic Fluid, Fetal Blood
Genetic Tests

Small changes in DNA that may go undetected by conventional diagnostic methods, can possibly be detected by genetic tests. Prenatal genetic testing can be opted in the following scenarios:

  1. Individual having a family history of genetic disorder
  2. Individual having a previously affected child
  3. Significant structural abnormalities on the fetal ultrasound

Please note: Parental carrier testing is a MUST prior to prenatal testing. Contact PerkinElmer Genomics laboratory to learn more about prenatal testing.

Click here to know more about Clinical Genomic Testing options available.

TEST OPTION SAMPLE TYPE SPECIAL REQUIREMENTS
Known Familial Mutation Chorionic Villi, Amniotic Fluid Prenatal carrier status reports, MCC reports

Second Trimester Markers

                

PerkinElmer Genomics’ Prenatal Screening Program

  • Follows FMF (UK) guidelines with FMF accredited analyzers for prenatal screening
  • All maternal markers analyzed – free hCGβ, PAPP-A, PlGF, AFP, uE3, Inhibin-A on PerkinElmer’s AutoDELFIA® platform, are CE-marked
  • Graphical interpretation of results with PerkinElmer’s clinically validated LifeCycle® screening management software
  • Risk interpretation based on MoMs of Indian population developed by screening more than 6 lakh pregnancies over the years

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