Circulating Cell-Free Fetal DNA Service

Non-invasive pregnancy testing (NIPT) of circulating cell-free DNA (cffDNA) for fetal aneuploidy analysis and sex determination.

Abnova Diagnostics provides circulating cell-free fetal DNA (cffDNA) service to pregnant mothers, requesting physicians, clinics, and hospitals. cffDNA is a non-invasive, prenatal test (NIPT) to screen for autosomal aneuploidies of Down’s syndrome (trisomy 21), Edward’s syndrome (trisomy 18), and Patau’s syndrome (trisomy 13) starting 10 weeks gestation. During the pregnancy the placenta leaks cell-free DNA which circulates in the maternal bloodstream. A maternal plasma sample contains a mixture of placental and material circulating DNA. The cffDNA test utilizes next-generation sequencing (NGS) to count the number of chromosome fragments to calculate the DNA ratio as a risk of an affected pregnancy. cffDNA test also be used to assess sex chromosome aneuploidies and fetal sex determination.

Specimen Requirement

  • Human whole blood: collect 10ml of maternal whole blood in Streck Cell-Free DNA BCT® tube starting 10 weeks gestation.
  • Sample shipment: whole blood sample in Streck BCT® tube is stable for up to 14 days if stored and transported at 6-37 °C.

Plasma Isolation, DNA Extraction, Library Preparation, Next-Generation Sequencing, and DNA Ratio Analysis

  • Plasma isolation: centrifuge and separate the whole blood into plasma, buffy coat (white blood cells & platelets), and erythrocyte fractions.
  • DNA extraction: extract the DNA from the plasma fraction followed by DNA purification and quantification.
  • Library preparation: fragment and size the genomic DNA, convert to double-stranded DNA, attach oligonucleotide adaptors, and quantitate library product.
  • Next-generation sequencing: calculate DNA ratio of maternal and placental chromosomal fragments.
  • DNA ratio analysis: determine autosomal and/or sex chromosome aneuploidies.

Analytical Methods

  • Next Generation Sequencing (NGS)
    *At least 4% placental DNA representing the fetal fraction is necessary to perform a valid and accurate NGS result.

Deliverables (Sent Within 10 Working Days)

An interpretative report of the ccfDNA will be provided.

  • DNA ratio used to determine automsomal aneuplodies - Down's syndrome (trisomy 21), Edward's syndrome (trisomy 18), or Patau's syndrome (trisomy 13).
  • Additional sex chromosome aneuploidy NGS testing per customer's request – Turner syndrome (Monosomy X), Triple X syndrome (XXX), Kleinfelter syndrome (XXY), and Jacob's syndrome (XYY).
  • Additional fetal sex determination per customer request.




  • At least 10 weeks pregnant (10w + 0 gestation)
  • Singleton or twin pregnancies
  • IVF, donor egg or surrogate pregnancies


  • Cancer
  • A trisomy
  • Undergone a blood transfusion in the last 12 months
  • Undergone Stem Cell Therapy or Immunotherapy
  • Received an organ transplant


Autosomal Aneuploidies Sex Chromosome Aneuploidies Fetal Sex Determination
Down's syndrome (trisomy 21)
Edward's syndrome (trisomy 18)
Patau's syndrome (trisomy 13)
Turner syndrome (Monosomy X)
Triple X syndrome (XXX)
Kleinfelter syndrome (XXY)
Jacob's syndrome (XYY)
Male vs Female
Service Fee (USD/EUR) : Inquire

SOFIVA NIPS Sample Report – Normal

SOFIVA NIPS Sample Report – Abnormal

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