Your guide to health and prenatal genetics
Mother hold baby

Assess your personalised prenatal risks, choose screening tests, and find nearby maternity clinics


Producer: BGI
Launch date: Jan 2013
Description: NIPT provided by the leading genomics company in China
Gestation week: 10+


  • 15q11 (Angelman syndrome)*
  • 15q11 (Prader Willi syndrome)*
  • 1p36 deletion syndrome*
  • 5p (Cri-du-chat syndrome)*
  • 11q23 (Jacobsen syndrome)*
  • 1q32.2 (Van der Woude syndrome)*
  • 2q33.1 deletion syndrome*
  • 10p14-13 (Di George syndrome II)*
  • 16p12 deletion syndrome*

Sex chromosomes aneuploidies

  • Monosomy X (X0) (Turner syndrome)*
  • XXY (Klinefelter syndrome)*
  • XXX (Triple X)*
  • XYY (Jacob syndrome)*


  • Gender*

* - optional conditions

Reporting time: 8-10 working days + additional sample delivery time
Price: from £350
Singletons: natural:   Yes
Singletons: IVF (self egg):   Yes
Singletons: IVF (donor egg):   Yes
Twins:   Yes
Fetal fraction:   No
Tests performed: > 600 000
Limitations: can not be used for: - earlier pregnancy (gestation) week than indicated; - multiple pregnancies (more than two baby); - previously unrecognised vanishing twin; - previously undiagnosed (and normaly benign) maternal chromosomal disorders; - chromosomal mosaicism (maternal or placental); - tumour disorders of the mother; - if following treatments received in the last 3 months: blood transfusion, bone marrow transplantation, radiation therapy; - cancer diagnosis
Sample requirements: 1 tube (provided in a kit) with 10 ml of the maternal blood
Location: Copenhagen, Denmark; certified BGI laboratory or BGI- Shenzhen, Shenzhen, China
Technology: Whole genome NGS
Type: Centralised test as a service
Methodology: Total cfDNA from maternal blood is sequenced by massively parallel or next generation sequencing (MPS/NGS) whole approach. Bioinformatic algorithms are then used to count the fetal and maternal cfDNA fragments specific to the chromosomes, calculate the ratio and hence provide a risk of an affected pregnancy.

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Information last updated 11/12/15