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First Trimester Screening (FTS)

First Trimester Screening (FTS) is an early prenatal screening test performed between 11th to 13th weeks 6 days of gestation to evaluate the risk of chromosomal abnormalities such as Trisomy 21 (Down Syndrome), Trisomy 18 (Edwards Syndrome) and Trisomy 13 (Patau Syndrome). This screening combines ultrasound measurement of nuchal translucency (NT) and maternal blood biomarkers to estimate risk, offering important insights into fetal health early in pregnancy. FTS supports timely clinical decision-making and can be followed by diagnostic testing such as chorionic villus sampling or amniocentesis if needed.

How FTS is done?

1. Early Ultrasound Scan

General anatomy of the fetus will be checked (crown-rump length, CRL, 42-79mm) to confirm the gestation of the pregnancy.
Looks for the presence of the fetal nasal bone (NB) and measures the nuchal translucency (NT). NT is a fluid filled area at the back of the fetal neck.
Studies shown that a large NT and/or a missing NB may be an indication of chromosomal abnormalities.
Apart from NT and NB, the ultrasound scan also examines the physical structures of the head, limbs, spine and the abdomen.

2. Maternal Blood Test

Can be done at the same time with the ultrasound scan.
Measures the concentration of two blood markers produced by the placenta, PAPP-A (Pregnancy Associated Plasma Protein-A) and free β-hCG (free beta-Human Chorionic Gonadotrophin).

Specimen Requirements
Clinical usage	Screens for Trisomy 21, Trisomy 18/13 (combined risk) using 2 biomarkers (Free βhCG & PAPP-A). The specimen will be tested by our qualified referral lab
Type of sample	5ml Blood (Plain Tube)
Patient requirement	Gestation Age: 11w0d – 13w6d No fasting required Important information needed: – Date of birth, Ethnicity, Weight, Blood collection date & Scan date – Smoker, yes/no – Number of fetus (singleton or twin) – Previous pregnancy history of T13, T18 or T21 – Assisted pregnancy details, (method, egg-freezing date, donor egg birth date, conception date & transfer date) if any – CRL (Crown Rump Length) – NT (Nuchal Translucency) – NB (Nasal Bone) NOTE: FTS is only applicable for singleton and twin pregnancy
Storage & transportation	Store and transport in ROOM TEMPERATURE. If the sample cannot be transported to the laboratory on the same day of collection, please store it at 2°C to 8°C.
Turnaround Time (TAT)	3 working days

FAQ

What does FTS result mean?

As a non-invasive screening test, FTS measures only the probable risk of the baby being affected by chromosomal abnormalities:

Low Risk Result – Likelihood of the baby being affected with the tested condition is low. Low risk results do not mean that the baby does not have any other abnormalities.
Increased Risk – The baby has an increased risk of being affected. Further diagnostic test is usually recommended to confirm FTS’s findings.

Who should consider FTS?

Any pregnant women who is anxious to have early information about her baby’s health
• Women with advanced maternal age (≥ 35 years old)
• History with previous birth of a child with a birth defect
• Individual with personal or family history of birth defects
• Abnormal ultrasound findings

How accurate is FTS?

FTS has a detection rate of around 85–90% for Down syndrome when combined with maternal age and other risk factors. However, it is a screening test, not a diagnostic test. The results indicate risk, not certainty.

Notification Text

First Trimester Screening (FTS)

At DNA LAB, we offer reference functions in molecular diagnostic and screening services for most Obstetricians, Gynaecologist, Paediatrics, Clinical Oncologists, GP Clinics, medical centres and hospitals in Malaysia.

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