When it comes to risk assessment and diagnosis of prenatal aneuploidy and pre-eclampsia, PerkinElmer Genomics offers you a one-stop solution from non-invasive biochemical screening in first trimester to diagnostic testing through cytogenetics, molecular genetics and genetic counseling.

First Trimester Screening Options

Analysing biochemical markers along with biophysical markers (Nuchal Translucency, NT or Nasal Bone, NB) in the first trimester of pregnancy using serum or Dried Blood Spot (DBS), Combined / Dual Marker Screening offers high detection rate thus providing early reassurance to you and your patients. The assessment is performed on FMF (UK) approved DELFIA® technology.

Combined / Dual Marker Screening Free hCGβ + PAPP-A + NT 11-13+6 weeks Serum / DBS

Pre-eclampsia screening using PlGF (Placental Growth Factor) allows early identification of a woman at high-risk for pre-eclampsia, and increases the likelihood of a better pregnancy outcome.

PerkinElmer launched the first commercially developed assay, PlGF for first trimester screening. Used in combination with biophysical markers (UTPI and MAP) and established risk factors, it effectively provides the risk interpretation for pre-eclampsia.

Pre-eclampsia Screening PAPP-A + PlGF + UTPI + MAP 11-13+6 weeks Serum

Enhanced First Trimester Screening or BE HAPPY First Trimester Pregnancy Check provides screening through four biochemical markers that can be used selectively with different biophysical markers to attain results which enable assessment of the pregnancy and development of appropriate care pathways. It screens for major maternal and fetal problems like fetal aneuploidies, structural defects and maternal pre-eclampsia. Elevated AFP levels indicate high risks for structural fetal anomalies and placental problems in pregnancy.

Enhanced First Trimester Screening Free hCGβ + PAPP-A + AFP + PlGF 11-13+6 weeks Serum

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.
NIScreen (Non-Invasive Prenatal Screening) 11 weeks onwards Serum

Diagnostic Options

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

SAMPLE TYPE Chorionic Villi, Amniotic Fluid, Fetal Blood
A novel assay based on PerkinElmer proprietary BACs-on-Beads® technology, BoBs® is a CE-IVD targeted molecular testing for the rapid detection of aneuploidies in chromosome 21, 18, 13, 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

Identifies changes in DNA on the gene level thus enabling detection of disorders that may go undetected by conventional methods. Click here to learn more.

SAMPLE TYPE Chorionic villus sample, amniotic sample, venous blood

Why PerkinElmer Genomics?

Our prenatal serum screening solutions cover not only every stage of pregnancy but also the entire range of modern screening strategies and the latest advances in prenatal care.

Full support for earlier detection

In the first trimester, our assays – PAPP-A, free hCGß, PlGF and AFP – provide effective screening for aneuploidy and other complications of pregnancy. The markers can be used as part of the dual (PAPP-A, free hCGß) or enhanced FTS (PAPP-A, free hCGß, PlGF and AFP) model when ultrasound is available or with enhanced FTS biochemistry-only model.

Our dried blood spot (DBS) assay is optimized for dual marker screening.

First Trimester Markers

PerkinElmer Genomics’ Prenatal Screening Program

  • Evidence and guideline-based screening program for risk assessment of Down syndrome and other aneuploidies in first trimester
  • 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

DBS: Simple. Safe. Efficient. Practical.

Our DELFIA®/AutoDELFIA® PAPP-A/Free hCGß Dual DBS (dried blood spot) assay supports easier access to prenatal screening in regions where storage and shipment of serum samples can be a challenge. The sampling process is simple and the blood spot is obtained by finger-prick.

  • Simplified sample collection and storage
  • Improved sample stability
  • Same detection efficiency as first-trimester serum assay for Down syndrome
  • No requirement of centrifugation
  • A practical solution for safe sample transport – No risk of lysis or leakage; minimal risk of contamination or biohazard during sample transport

Reporting: Where quality is paramount!

Follows FMF (UK) protocols and guidelines along with stringent regular evaluation by international Quality Assurance Schemes (UK NEQAS, CAP, PMF Taiwan) and stringent audit by NABL and CAP, allowing us to provide quality reports and results – which is also known to be the hallmark to our quality standards. PerkinElmer uses the technology and algorithm which is clinically proven and validated by 23 population- based studies, including 2 NIH-sponsored studies examining over 260,000 pregnant women.

Experts’ Speak