Rhesus-NIPT Malaysia | Non-Invasive Foetal RhD Screening

99.93 %

Sensitivity

For foetal RhD detection

99.61 %

Specificity

For foetal RhD detection

11 weeks

Earliest Testing

From 11 weeks gestation

What is Rhesus-NIPT?

Non-invasive prenatal testing (NIPT) of cell-free DNA (cfDNA) can be used to determine foetal antigen genotype for the prediction of foetal antigen phenotype. The American College of Obstetricians and Gynecologists (ACOG) notes that NIPT could be an effective and attractive strategy for the management of RhD-negative and alloimmunised pregnancies.

NIPT for the detection of foetal genotypes that encode for RhD, C, c, E, K (Kell), and Fya (Duffy) is available. These antigens are all associated with Haemolytic Disease of the Foetus and Newborn (HDFN) and can be detected as early as 11 weeks gestation.

Why Rhesus Screening Matters

RhD-Negative Mothers

When an RhD-negative mother carries an RhD-positive foetus, there is risk of sensitisation, leading to potential Haemolytic Disease of the Foetus and Newborn (HDFN) in current or future pregnancies.

Avoid Unnecessary Anti-D

If the foetus is RhD-negative, anti-D immunoglobulin (Ig) prophylaxis is not required, avoiding unnecessary exposure to donor blood-derived products.

Prevent HDFN

Haemolytic Disease of the Foetus and Newborn can cause anaemia, jaundice, and in severe cases, brain damage or foetal death. Knowing foetal antigen status allows for appropriate management.

RHD Gene Exons Analysed

Our Rhesus-NIPT targets specific exons of the RHD gene to ensure accurate foetal RhD determination:

Exon 4

RHD exon 4

Exon 5

RHD exon 5

Exon 7

RHD exon 7

Exon 10

RHD exon 10

Testing multiple exons increases accuracy and reduces the risk of false results due to RHD variants or gene rearrangements.

Foetal Antigens Detected

Antigen	Gene	Clinical Significance	Associated with HDFN
RhD	RHD	Most common cause of HDFN; routine screening recommended	✓ Yes
RhC	RHCE	Can cause HDFN, though less severe than RhD	✓ Yes
Rhc	RHCE	Can cause moderate to severe HDFN	✓ Yes
RhE	RHCE	Can cause HDFN, usually mild to moderate	✓ Yes
Kell (K)	KEL	Highly immunogenic; can cause severe HDFN	✓ Yes
Duffy (Fya)	FY	Can cause mild to moderate HDFN	✓ Yes

Methodology

Sample Collection

Maternal blood collected in specialised cfDNA tube from 11 weeks gestation

cfDNA Extraction

Cell-free foetal DNA isolated from maternal plasma

NGS Sequencing

Targeted analysis of RHD exons 4,5,7,10; plus RHCE, KEL, and FY genes

Reporting

Foetal antigen genotype predicted with >99% accuracy

Technical Specifications

Method: Next generation sequencing of PCR amplicons of cell-free foetal DNA
Sensitivity: >98% for single sample; >99% with repeat testing for low probability results
Gestational age: Validated from 11 weeks to term
Sample type: Maternal blood in specialised cell-free DNA BCT tubes
Turnaround time: 4-8 business days

Clinical Guidelines

The Australian National Blood Authority Guidelines (endorsed by RANZCOG) recommend that all pregnant RhD-negative patients should have access to foetal Rhesus screening where feasible, to ensure responsible administration of anti-D Ig only when required.

The American College of Obstetricians and Gynecologists (ACOG) notes that NIPT could be an effective and attractive strategy for the management of RhD-negative and alloimmunised pregnancies.

Important Considerations

Not for alloimmunised patients: This test is suitable for non-alloimmunised RhD-negative pregnant patients. For alloimmunised patients, please contact us for alternative testing options.
Confirmatory testing: As this is a screening test, confirmatory postnatal RhD testing on cord blood or neonatal sample should be performed regardless of result.
Repeat testing: If a low probability result (no RHD detected) is obtained before 18 weeks, repeat testing is required for confirmation.
Each pregnancy: Foetal RhD status may differ with each pregnancy; testing should be performed each time an RhD-negative patient becomes pregnant.

Questions About Rhesus-NIPT?

Our genetic counsellors are available to discuss test indications, result interpretation, and management of RhD-negative and alloimmunised pregnancies.

Contact Genetic Counseling