Screening for Chromosomal Defects

Chromosomal abnormalities are major causes of perinatal death and childhood handicap. Consequently, the detection of chromosomal disorders constitutes the most frequent indication for invasive prenatal diagnosis. However, invasive testing, by amniocentesis, chorionicvillus sampling (CVS) or cordocentesis, is associated with a risk of miscarriage of about 1% and therefore these tests are carried out only in pregnancies considered to beat high-risk for chromosomal defects. The methods of screening to identify the high-risk group are maternal age, ultrasound findings at 11-14 weeks and/or in the second trimester and maternal serum biochemical testing at 11-14 weeks and/or in the second trimester.

Fig. 1: NT measurement
Fig. 1: NT measurement

This article was first published in the VISIONS, issue 6/2004, a publication of Toshiba Medical Systems


Read all latest stories

Related articles


Sponsored • Computed Tomography

Mobile Imaging Solutions: Clinical Confidence Anywhere

To bridge new equipment installations in radiology, temporary high workloads, or long-term additional capacity, Canon Medical provides mobile solutions according to customers’ needs and wishes.


Video • Redesign & refresh

Canon Medical updates Aplio ultrasound systems

Canon Medical announced the commercial launch of the Aplio i-series / Prism Edition, a complete redesign of its premium ultrasound series. In addition, Aplio a-series, Canon Medical’s…


Sponsored • All-in-one imaging trailer

Mobile solutions for the COVID-19 frontline

With public health issues continuing to make daily mainstream news headlines across the world, it is clear how much change the healthcare environment is going through. Not only are there existing…

Related products

Subscribe to Newsletter