Maternal Serum Screening

Maternal serum screening helps detect several fetal conditions, including:

• Down syndrome (Trisomy 21): This is a genetic condition where a baby is born with an extra copy of chromosome 21. It can lead to various physical and intellectual challenges, including a unique facial appearance and developmental delays.
• Trisomy 18: This condition involves having an extra chromosome 18. Babies with Trisomy 18 often face severe developmental issues and typically have a shorter life expectancy.
• Trisomy 13: Also known as Patau syndrome, this condition is characterised by an extra chromosome 13, which can cause severe intellectual disability and physical abnormalities, often leading to a significantly reduced lifespan.
• Neural tube defects: These are serious birth defects that occur when the spine or brain does not develop properly. Conditions like spina bifida fall under this category, which can lead to physical disabilities and complications.

Maternal screening tests are recommended for all pregnant women. However, those who are at higher risk may particularly benefit from the test, including:

• Women over the age of 35.
• Women with a family history of genetic disorders.
• Women with abnormal ultrasound findings.
• Pregnancies conceived through assisted reproductive technologies (ART).

Maternal serum screening works by analysing specific proteins and hormones in the mother’s blood. These substances, produced by the placenta or the baby, can indicate potential genetic abnormalities. The levels of these markers are compared with normal levels for that stage of pregnancy to assess risk.

The procedure for a maternal screening test is straightforward. It involves :

1. A simple blood draw from the mother’s arm.
2. The sample is sent to the lab for analysis.
3. Results are provided based on the levels of proteins and hormones in the blood.

The results of a maternal serum screening test provide a risk assessment rather than a definitive diagnosis. If the test indicates an increased risk for certain conditions, further diagnostic testing, such as amniocentesis or chorionic villus sampling (CVS), may be recommended.

MedGenome is a leader in genetic diagnostics, offering:

• Advanced technology for precise and reliable screening.
• Comprehensive testing panels for accurate risk assessment.
• Quick turnaround times for timely results.
• Expert genetic counselling services guide expectant parents through the screening process and results.

This structured approach to maternal serum screening enables early detection, empowering expectant parents and healthcare providers to make informed decisions during pregnancy. For the most accurate and reliable testing, MedGenome remains a trusted partner in genetic diagnostics.