MDIS Blog

Main Menu

MENUMENU
  • Home
  • Topics
        • Business & Management
        • Career Management
        • College
        • Engineering
        • Event
        • Fashion & Design
        • Health & Nursing
        • Information Technology
        • Languages
        • Life Sciences
        • Lifestyle
        • MDC
        • Media & Communications
        • Psychology
        • Safety Management
        • Tourism & Hospitality
        • Uncategorized
  • Campus
  • Student Life
  • Preview Sessions
  • + Become A Contributor

logo

Header Banner

MDIS Blog

MENUMENU
  • Home
  • Topics
        • Business & Management
        • Career Management
        • College
        • Engineering
        • Event
        • Fashion & Design
        • Health & Nursing
        • Information Technology
        • Languages
        • Life Sciences
        • Lifestyle
        • MDC
        • Media & Communications
        • Psychology
        • Safety Management
        • Tourism & Hospitality
        • Uncategorized
  • Campus
  • Student Life
  • Preview Sessions
Life Sciences
Home›Life Sciences›Emerging technology enables risk-free assessment of genetic health of growing baby

Emerging technology enables risk-free assessment of genetic health of growing baby

By MDIS
5th September 2019
4737
0
Share:

Pregnancy is a pleasant journey and wonderful experience especially for first time parents-to-be. Regular visits to the obstetrics clinic is important to monitor the health of the growing baby. Genetic diagnosis of chromosomal abnormalities such as Down syndrome is also part of the health screening of the growing fetus along the pregnancy journey.

Gold standard genetic diagnosis of fetal chromosomal abnormalities using fetal cells collected through invasive procedures such as chorionic villus sampling and amniocentesis is precise, but is associated with a small risk of 0.5-1% of procedural miscarriage1.

The first detection of cell-free fetal DNA in pregnant mother’s blood in 1997 by Lo et al.2 has now led to the risk-free non-invasive prenatal testing (NIPT) clinically available since 2011, to understand the fetal genetic condition such as Down Syndrome and other chromosomal abnormalities of the fetus3.

Thanks to the concerted effort of several researchers and clinicians all over the world, NIPT is offered in many countries including Singapore.

 

 

 

Although NIPT is not a diagnostic test, if used appropriately, it increases the detection rate of fetal chromosomal abnormalities and thus decreases the number of invasive tests required. For example, the test is sensitive enough (99%) to detect Down syndrome with a false positive rate less than 0.1%4. It is also employed for the detection of other chromosomal abnormalities such as Edward syndrome and Patau syndrome.

DNA sequencing (arrangement of genetic information) of fetal and maternal DNA fragments in mother’s plasma are analysed and the data subjected to rigorous statistical analysis to ensure accuracy of the test.

Accuracy of NIPT is affected by various biological factors including fetal DNA fraction in maternal plasma, which is influenced by maternal body mass index, gestational age, fetal aneuploidy etc. Low fetal fraction in samples and assay failures necessitates the invasive testing5.

NIPT is considered a superior screening test when compared to traditional combined first trimester screening (cFTS), with a detection rate of 99% for Down syndrome, 96% for Edward syndrome and 91% for Patau syndrome with a cumulative false positive rate less than 0.4% 1,4.

Apart from cell-free DNA, fetal cells circulating in mother’s blood are also considered novel candidates for prenatal diagnosis. Placental trophoblasts and fetal nucleated red blood cells6 are the two major fetal cell types that are being explored for prenatal diagnosis.

This approach involves the enrichment of these cells from maternal blood, extraction of their DNA and sequencing using the available gene sequencing methods7. This technology is under development and is expected to be available for clinical application soon.

Reference:

1 Harraway J. Non-invasive prenatal testing. Aust. Fam. Physician. 2017 46(10):735-739.

  1. Lo Y.M.D., Corbetta N., Chamberlain P.F., Rai V., Sargent I.L., Redman C.W.G. and Wainscoat, J.S. Presence of fetal DNA in maternal plasma and serum. Lancet. 1997; 350:485–487.
  2. Bianchi and Wilkins-Haug. Integration of Noninvasive DNA Testing for Aneuploidy into prenatal Care: What Has Happened Since the Rubber Met the Road? Clin. Chem. 014;60(1):78–87.
  3. Gil, M. M., Quezada, M. S., Revello, R., Akolekar, R., and Nicolaides, K.H. Analysis of cell-free DNA in maternal blood in screening for fetal aneuploidies: updated meta-analysis. Ultrasound in Obstetrics and Gynaecology, 2015;45, 249–266.
  4. Gregg A.R., Skotko B.G., Benkendorf J.L., Monaghan K.G., Bajaj K., Best R.G., Klugman S. and Watson M.S. Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics. Genet Med. 2016;18(10):1056–65.
  5. S. Ponnusamy, N. Mohammed, S.S.Y Ho, H.M. Zhang, Y.H Chan, Y.W.Ng, L.L.Su, A.P. Mahyuddin, A. Venkat, J. Chan, M. Rauff, A. Biswas and M. Choolani (2008). In vivo model to determine fetal-cell enrichment efficiency of novel noninvasive prenatal diagnosis methods. Prenat Diagn. 28:494-502.
  6. Beaudet, A.L. Using fetal cells for prenatal diagnosis: History and recent progress. Am. J. Med. Genet. C. Semin. Med. Genet. 2016;172(2):123-7.

 

This article is written by Dr Sukumar Ponnusamy, a lecturer of MDIS School of Life Sciences.

Tagslife sciencenon-invasive prenatal testingpregnancy
0
Shares
  • 0
  • +
  • 0
  • 0
  • 0
  • 0
MDIS

MDIS

Founded in 1956, the Management Development Institute of Singapore (MDIS) is Singapore’s oldest not-for-profit professional institute for lifelong learning. MDIS has two main subsidiaries: Management Development Institute of Singapore Pte Ltd which oversees its Singapore academic operations, and MDIS International Pte Ltd which focuses on MDIS’ globalisation strategy. MDIS offers internationally-accredited courses in Business and Management, Engineering, Fashion and Jewellery Design, Health and Nursing, Information Technology, Languages and Education, Life Sciences, Media and Communications, Psychology, Tourism and Hospitality Management, and Safety and Environmental Management. These programmes are offered in collaboration with renowned universities in the United Kingdom.

Related articles More from author

  • Life Sciences

    Candida auris, drug resistance, and another reason to wash your hands

    15th May 2019
    By MDIS
  • human brain
    Life Sciences

    Human mini-brains and why developmental biology is interesting

    8th May 2018
    By MDIS
  • Life Sciences

    Emergence of superbugs, are we facing an antibiotics apocalypse?

    30th November 2018
    By MDIS
  • Featured Full Width SliderLife Sciences

    The Timeline of Antibiotics

    19th August 2021
    By Dr Sunesh
  • Featured Full Width SliderLife Sciences

    Were Dinosaurs Nurturing Parents?

    17th February 2020
    By MDIS
  • Featured PostLife Sciences

    Top 10 Jobs for Biomedical Science Degree Graduates in SG

    27th July 2021
    By MDIS

Leave a reply Cancel reply

You may also like

  • first impression
    Business & ManagementFeatured BK RowFeatured Full Width Slider

    Sure-win tips on making a good first impression

  • Featured PostStudent Life

    A Peek Into Dr Yew’s Life

  • Life Sciences

    Emergence of superbugs, are we facing an antibiotics apocalypse?

Categories

  • Business & Management (26)
  • Campus (5)
  • Career Management (21)
  • College (16)
  • Engineering (10)
  • Event (32)
  • Fashion & Design (30)
  • Featured BK Row (64)
  • Featured BK Video (10)
  • Featured Full Width Slider (58)
  • Featured Post (84)
  • Health & Nursing (6)
  • Information Technology (27)
  • Languages (17)
  • Life Sciences (24)
  • Lifestyle (7)
  • MDC (14)
  • Media & Communications (28)
  • Psychology (8)
  • Safety Management (7)
  • Student Life (15)
  • Tourism & Hospitality (26)
  • Uncategorized (10)

Follow us on Instagram

This error message is only visible to WordPress admins

Error: No connected account.

Please go to the Instagram Feed settings page to connect an account.

TAGS

  • Business Administration
  • Tourism and Hospitality
  • social media
  • lecturer's life
  • head of school
  • biomedical science degree
  • covid-19 jobs
  • Alumni
  • studying tips
  • Digitalisation
  • nursing degree in Singapore
  • biomedical science singapore
  • MDIS Alumni
  • MDIS Events
  • biomedical
  • biomedical sciences
  • nursing course
  • 7 habits of highly effective people
  • Health & Nursing
  • technology
  • MBA vs MSc
  • life sciences
  • cybersecurity
  • engineering
  • MBA or MSc
  • difference between MBA and MSc
  • Artificial intelligence
  • nursing school in singapore
  • Engineering jobs
  • Fashion Design
THINK SUCCESS. THINK MDIS.
Copyright© 2022. MDIS Blog. All Rights Reserved.
     
Where lifelong learning begins