SingGene Non-Invasive Prenatal Test (NIPT)

The Single-Gene NIPT to detect Thalassemia and other recessive single-gene disorders non-invasively

Test Introduction

The Single-Gene NIPT to detect Thalassemia and other recessive single-gene disorders non-invasively.

Direct insights to the fetus are possible with QCTᵀᴹ Technology

Quantitative Counting Templatesᵀᴹ, patented by BillionToOne, quantify fetal DNA molecules from cfDNA down to a single base pair. This makes it possible to determine the fetal genotype in maternal blood, providing an individualized risk for pregnancy to be affected with the recessive disorder the patient carries.

What SingGene NIPT covers

SingGene NIPT utilizes cell-free DNA (cfDNA) to directly assess fetal genetic information, resulting in a significant increase (see comparison below) in the detection of affected pregnancies compared to traditional carrier screening¹.

Screens for Recessive Disorders

Requires extreme precision and sensitivity. For positive maternal carriers, cell-free DNA (cfDNA) from the same blood draw is analyzed to determine a precise fetal risk.

Alpha Thalassemia (HBA)

Incidence at birth
(Type of Single-Gene Disorders Tested)
1 in 33⁵ (Singapore)
Thalassemias (HBA, HBB)

Beta Thalassemia (HBB)

Incidence at birth
(Type of Single-Gene Disorders Tested)
1 in 33⁵ (Singapore)
Thalassemias (HBA, HBB)

Cystic Fibrosis (CFTR)

Incidence at birth
(Type of Single-Gene Disorders Tested)
1 in 3,000⁶ (Northern Europeans)
Cystic Fibrosis (CFTR)

Spinal Muscular Atrophy (SMN1)

Incidence at birth
(Type of Single-Gene Disorders Tested)
1 in 10,000⁷ (General Population)
Spinal Muscular Atrophy (SMN1)

Sickle Cell Disease (HBB)

Incidence at birth
(Type of Single-Gene Disorders Tested)
1 in 365⁸ (African Americans)
Sickle Cell Disease (HBB)

Medical treatment has to be individualised and can only be rendered after adequate assessment of your condition through appropriate clinical examination, and after discussion with your doctor. You should not rely on the information provided herein. Please note that the contents of this page are provided on the understanding that no surgical or medical advice or recommendation is being rendered.

Sources:
1. Wynn J, et al. Performance of single-gene noninvasive prenatal testing for autosomal recessive conditions in a general population setting. Prenat Diagn. 2023 Sep; 43(10):1344-1354. doi:10.1002/pd.6427. Epub 2023 Sep 6. PMID: 37674263.
2. Hull, L E et al. “Association of Patient and Site-of-Care Characteristics With Reproductive Carrier Screening Timing in a Large Integrated Health System.” JAMA network open vol. 5,11 e2240829. 1 Nov. 2022, doi:10.1001jamanetworkopen.2022.40829
3. Carlotti, K et al. “Perceived barriers to paternal expanded carrier screening following a positive maternal result: To screen or not to screen.” Journal of genetic counseling vol. 30,2 (2021): 470-477. doi:10.1002/jgc4.1333
4. Strauss, T S et al. “Barriers to completion of expanded carrier screening in an inner city population.” Genetics in medicine : official journal of the American College of Medical Genetics vol. 25,7 (2023): 100858.doi:10.1016/j.gim.2023.100858
5. https://www.healthhub.sg/live-healthy/pregnancy-thalassemia-tests#:~:text=Thalassemia%E2%80%8B%20is%20passed%20on,carriers%20of%20the%20thalassemia%20gene
6. “Data and Statistics on Sickle Cell Disease | CDC.” Centers for Disease Control and Prevention, 30 Mar. 2022, www.cdc.gov/ncbddd/sicklecell/data.html.
7. NORD - National Organization for Rare Disorders. “Cystic Fibrosis.” NORD (National Organization for Rare Disorders), 9 Dec. 2020, rarediseases.org/rare-diseases/cystic-fibrosis.
8. NORD - National Organization for Rare Disorders. “Spinal Muscular Atrophy.” NORD (National Organization for Rare Disorders), 12 Jan. 2022, rarediseases.org/rare-diseases/spinal-muscular-atrophy.

How it Works

Know More. Know Early.

One blood draw for multiple insights. No male partner sample required for an accurate fetal risk.

Patient Story

A Patient’s Journey: Invasive vs. Non-Invasive Testing

When Emily found out she was pregnant, joy quickly turned to worry. Her family history of genetic conditions made her pregnancy high-risk. She had initially heard about invasive testing, which involved needles and carried a risk of miscarriage. The thought of it filled Emily with dread and anxiety. Then, she learned about non-invasive prenatal testing (NIPT). A simple blood draw from her arm, no risk to her baby, and accurate results. Choosing NIPT allowed Emily to feel at ease, knowing she could monitor her baby’s health without the fear and stress of invasive procedures. When her results came back normal, the relief was immense, allowing her to enjoy her pregnancy with peace of mind.

Other Information

SingGene NIPT
Frequently Asked Questions

What are Single Gene condition?
Single gene conditions, also known as monogenic disorders, are genetic disorders caused by mutations in a single gene. These mutations alter DNA sequence of a specific gene and lead to changes in the function or production of the protein encoded by that gene. Autosomal dominant and autosomal recessive disorders are two main types of single gene conditions.

How does Autosomal Recessive Disorders affect the unborn child?
Autosomal recessive disorders result from mutations in both copies of a gene (one from each parent). Carriers of a single mutated gene are usually asymptomatic but can pass the mutation to the unborn child. There is a 1 in 4 chance where the unborn child inherits the mutated genes from both parents and the disorder manifest. Examples of autosomal recessive disorders include Thalassemia, Sickle Cell Disease, Spinal Muscular Atrophy and Cystic Fibrosis.

What is SingGene Non-Invasive Prenatal Test (sgNIPT)?
SingGene NIPT is a non-invasive prenatal testing is based on the analysis of specific genes (HBA1, HBA2, HBB, SMN1, CFTR) in cell-free DNA (cfDNA) in the maternal blood. Results will show whether the unborn child is at high or low risk (i.e. fetal risk score) of inheriting mutations from both parents and manifesting the condition.

How will the fetal risk score affect antenatal care?
Knowledge of the fetal risk score allows healthcare providers to assess the risk of the unborn child inheriting the single gene disorder. In cases with high risk results, genetic counseling and confirmatory prenatal diagnostic tests such as amniocentesis may be offered.

Who should consider SingGene NIPT?
SingGene NIPT should be a consideration for everyone, but it is strongly recommended for those who have the following:

Family History: Couples with a family history of a specific single gene disorder may opt for SingGene NIPT to assess the risk of passing the condition to their child.
Carrier Status/Ethnic Background: Individuals identified as carriers or at risk of certain autosomal recessive conditions due to ethnicity may opt for SingGene NIPT to determine whether fetus has inherited both copies of the mutated gene.
Previous Affected Child: Couples who have had a previous child with a known single gene disorder may opt for SingGene NIPT in subsequent pregnancies to assess the risk of recurrence.

What are the main benefits of SingGene NIPT compared to traditional Carrier Screening?

No paternal sample is required.
Faster turnaround time.
75% do not have to go through UNNECESSARY INVASIVE TESTING; which carries risk of miscarriage.
Provide true fetal risk instead of a reproductive risk.

What are the limitations of SingGene NIPT?