News & Media

BillionToOne to present single-gene NIPT poster at 40th SMFM conference

JAN 3 / 2020

BillionToOne is presenting a poster on UNITYTM‘s single-gene NIPT at the 40th Annual Pregnancy Meeting by Society of Maternal Fetal Medicine.

A non-invasive prenatal test for Alpha Thalassemia Hb Barts and Hb Constant Spring

UNITYTM is the only prenatal screen that tests cell-free fetal DNA for cystic fibrosis, spinal muscular atrophy (SMA), sickle cell disease, and alpha and beta thalassemia using just one tube of blood from the mother.

Alpha Thalassemia is a frequent and severe recessive genetic blood disorder caused by mutations and deletions in the HBA1/HBA2 locus. 6% of the US population are carriers for the moderate form of the disease, Hemoglobin H disease (HbH), and 0.2% of the US population are carriers for more severe form of alpha thalassemia, Hb Barts.

BillionToOne has designed non-invasive prenatal test (NIPT) for Hb Barts carriers, HbH silent carriers, and HbH Constant Spring carriers. With the ability to test both the mother’s carrier status and the fetal genotype from a single non-invasive blood draw creates a new carrier screening paradigm that can greatly improve clinical outcomes and patient experience.

1 in 3 African American is a carrier for silent alpha thalassemia. Under the current carrier screen workflow, over 30% of African Americans receive a positive alpha thalassemia results and would spend the next few weeks anxiously waiting for her partner’s carrier screening results. Due to financial and logistical barriers, majority of fathers do not follow through the carrier screening, which leaves a huge uncertainty to women who with positive carrier results.

With UNITYTM , mothers would learn her carrier status and the fetal risk for these commonly inherited conditions simultaneously, removing the big mental burden from the pregnant mothers. In the poster, the BillionToOne research team goes over the detailed assay design and its clinical implication.

UNITYTM is clinically validated and is available for clinical order for all US States (except for New York State) as well as international send-out samples. For any inquiry, reach out to [email protected]