Can fetal ultrasound lead to better handling of chromosomal anomalies?

Ultrasonographic measurements of fetal nuchal translucency can lead to better management of chromosomal anomalies, according to a study published March 26 in JAMA Network Open. Researchers led by doctoral candidate Kara Bellai-Dussault from the University of Ottawa in Ontario, Canada, found that pregnancies with nuchal translucency measurements greater than 2 mm are at increased risk of chromosomal anomalies. They highlighted that this means the widely used threshold of 3.5 mm may need to be reexamined. “The findings were consistent through several sensitivity analyses,” Bellai-Dussault and colleagues wrote. Fetal nuchal translucency is an ultrasound exam performed in the first trimester of pregnancy. It helps determine the risk of congenital conditions like Down syndrome being developed in fetuses. Specifically, it screens for trisomies 21 and 18 and other conditions. A cutoff of 3.5 mm or greater is used as a marker for common and uncommon aneuploidies (i.e., missing chromosomes) as well as for a wide variety of genetic syndromes and structural anomalies. With this cutoff point, follow-up exams such as prenatal cell-free DNA screening or cytogenetic testing are recommended. However, previous studies suggest ties between chromosomal anomalies and cutoff levels less than 3.5 mm. The Bellai-Dussault team evaluated the association between different nuchal translucency measurements and cytogenetic outcomes on a population level. The study included data from 414,268 pre...
Source: AuntMinnie.com Headlines - Category: Radiology Authors: Tags: Subspecialties Ultrasound Womens Imaging Genitourinary Radiology Source Type: news