We use cookies to understand how you use our site and to improve your experience. This includes personalizing content and advertising. To learn more, click here. By continuing to use our site, you accept our use of cookies. Cookie Policy.

Features Partner Sites Information LinkXpress hp
Sign In
Advertise with Us

Download Mobile App




Noninvasive Analysis of Mother's Blood Detects Fetal Chromosomal Abnormalities

By LabMedica International staff writers
Posted on 21 May 2014
Analysis of cell-free fetal DNA from maternal plasma carried out in a benchtop semiconductor sequencing platform (SSP) was shown to be an effective strategy for large-scale noninvasive screening for chromosomal aneuploidies in a clinical setting.

While chromosomal aneuploidies represent a major cause of fetal loss and birth defects, current methods for the prenatal diagnosis of aneuploidy require invasive methods that are associated with a risk of miscarriage and other complications.

A recently developed technique, massively parallel sequencing (MPS) of cell-free fetal DNA from maternal plasma, avoids the risk of fetal loss associated with more invasive diagnostic procedures.

Investigators at the University of California, San Diego (USA) employed an Ion Torrent sequencer, a benchtop semiconductor sequencing platform (SSP) developed by Life Technologies (Carlsbad, CA, USA), to perform MPS analysis on plasma samples from 2,275 pregnant subjects. More...
Life Technologies is a member of the Thermo Fisher Scientific (Milford, MA, USA) family of companies.

The pool of 2,275 subjects contained a group of 515 women who had full karyotyping results and were used for retrospective analysis. The remaining 1,760 subjects without karyotyping were analyzed in a prospective study.

In the retrospective study, all 55 fetal trisomy 21 cases were identified using the SSP with a sensitivity and specificity of 99.94% and 99.46%, respectively. The SSP also detected 16 trisomy 18 cases with 100% sensitivity and 99.24% specificity and three trisomy 13 cases with 100% sensitivity and 100% specificity. Furthermore, 15 fetuses with sex chromosome aneuploidies were detected. In the prospective study, nine fetuses with trisomy 21, three with trisomy 18, three with trisomy 13, and one with 45,X were detected.

“To our knowledge, this is the first large-scale clinical study to systematically identify chromosomal aneuploidies based on cell-free fetal DNA using SSP,” said senior author Dr. Kang Zhang, professor of ophthalmology at the University of California, San Diego. “It provides an effective strategy for large-scale, noninvasive screenings in a clinical setting. It can be done in hospitals and outpatient clinics, more quickly and cheaply. We believe this approach could become the standard of care for screening of prenatal chromosomal abnormalities.”

The SSP study was published in the May 5, 2014, online edition of the journal Proceedings of the National Academy of Sciences of the United States of America (PNAS).

Related Links:

University of California, San Diego
Life Technologies
Thermo Fisher Scientific



Gold Member
Quality Control Material
iPLEX Pro Exome QC Panel
Collection and Transport System
PurSafe Plus®
Rapid Molecular Testing Device
FlashDetect Flash10
New
Gold Member
Collection and Transport System
PurSafe Plus®
Read the full article by registering today, it's FREE! It's Free!
Register now for FREE to LabMedica.com and get access to news and events that shape the world of Clinical Laboratory Medicine.
  • Free digital version edition of LabMedica International sent by email on regular basis
  • Free print version of LabMedica International magazine (available only outside USA and Canada).
  • Free and unlimited access to back issues of LabMedica International in digital format
  • Free LabMedica International Newsletter sent every week containing the latest news
  • Free breaking news sent via email
  • Free access to Events Calendar
  • Free access to LinkXpress new product services
  • REGISTRATION IS FREE AND EASY!
Click here to Register








Channels

Hematology

view channel
Image: New evidence shows viscoelastic testing can improve assessment of blood clotting during postpartum hemorrhage (Photo courtesy of 123RF)

Viscoelastic Testing Could Improve Treatment of Maternal Hemorrhage

Postpartum hemorrhage, severe bleeding after childbirth, remains one of the leading causes of maternal mortality worldwide, yet many of these deaths are preventable. Standard care can be hindered by delays... Read more

Immunology

view channel
Image: The CloneSeq-SV approach can allow researchers to study how cells within high-grade serous ovarian cancer change over time (Photo courtesy of MSK)

Blood Test Tracks Treatment Resistance in High-Grade Serous Ovarian Cancer

High-grade serous ovarian cancer (HGSOC) is often diagnosed at an advanced stage because it spreads microscopically throughout the abdomen, and although initial surgery and chemotherapy can work, most... Read more

Industry

view channel
Image: The collaboration aims to improve access to Hb variant testing with the Gazelle POC diagnostic platform (Photo courtesy of Hemex Health)

Terumo BCT and Hemex Health Collaborate to Improve Access to Testing for Hemoglobin Disorders

Millions of people worldwide living with sickle cell disease and other hemoglobin disorders experience delayed diagnosis and limited access to effective care, particularly in regions where testing is scarce.... Read more
Copyright © 2000-2025 Globetech Media. All rights reserved.