Fetal Seq (version 1.0)

A fetal sequence typically refers to the comprehensive sequencing of fetal DNA to assess genetic information, this process involves analyzing the genetic sequence of the fetus.

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Test Introduction

FetalSeq v1.0 utilizes an innovative next generation sequencing platform for a more comprehensive, precise assessment of pathogenic copy number variants detection, compared to Fetal DNA Chip. It is a genetic test utilizing whole-genome sequencing for identifying clinically significant copy-number variants (CNVs), microdeletion and microduplication syndromes and chromosome aneuploidies. FetalSeq is developed and validated by The Chinese University of Hong Kong.

FetalSeq provides genetic investigation across different applications, including miscarriages, invasive prenatal diagnosis for high risk pregnancies such as fetal ultrasound anomalies and/or other indications, and postnatal cases with developmental delay and disabilities.

What Fetal Seq (version 1.0) covers

Advantages of Fetal Seq v1.0:

Compared with Fetal DNA Chip, FetalSeq v1.0 can detect deletion(s) and duplication(s):

  • More comprehensively: on a genome-wide scale at a higher resolution (>50kb) with evenly distributed sequencing reads, including some cryptic disease-related regions not covered by Fetal DNA Chip.
  • More precise: in a non-targeted manner, which reduces bias and improves detection of precise boundaries of deletions/ duplications.
  • Requiring less DNA input. 

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.

How it Works

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

Fetal DNA Chip (version 2.0)

Who will benefit from this test?

  1. Couples with previous miscarriage or stillbirth.
  2. Women who want invasive prenatal testing due to
    fetal anomalies in ultrasound examination, high risk
    from Down’s Syndrome Screening/non-invasive
    prenatal testing and/or advanced maternal age.
  3. Existing children with developmental delay,
    intellectual disabilities, autism spectrum disorders
    or multiple congenital anomalies.

Important notes for Fetal DNA Chip:

  1. This test detects chromosomal aneuploidies,
    microdeletions and microduplications.
  2. Limitation: It is unable to detect balanced
    translocations, inversions, uniparental disomies,
    low-level mosaicism and single-nucleotide variants.
  3. Normal test results do not exclude other genetic
    causes that are undetectable by FetalSeq v1.0.