Rare autosomal trisomies: Important and not so rare
O&G • 11m
Noninvasive prenatal testing (NIPT) can assess chromosomes other than 13, 18, 21, X and Y. These rare autosomal trisomies (RATs) can adversely affect pregnancy outcome. A prospective study of NIPT using the Illumina sequencing platform assessing all chromosomes were reported for further management. The study showed that Rare autosomal trisomies are not rare and often associated with poor obstetric outcomes. They should be discussed with the clinician to guide management. Pregnancy outcomes varied by chromosome being generally favourable for some (eg, trisomy 7) and poor for others (eg, trisomy 22). In the presence of a RAT, pregnancy?associated plasma protein?A is predictive of placental dysfunction and fetal growth restriction.
Up Next in O&G
-
Prediction of preterm delivery
-
Pitfalls in the use of shear wave ela...
Ultrasound shear wave elastography has the potential to assess the strength of the maternal cervix for signs of insufficiency.1, 2 The reliability of shear wave elastography in biological tissues can be affected by numerous ultrasound artifacts and prestress of tissues in the region of interest c...
-
Pelvic floor ultrasound: essentials
Female pelvic floor dysfunction encompasses a number of prevalent conditions and includes pelvic organ prolapse, urinary and fecal incontinence, obstructed defecation and sexual dysfunction. In most cases neither etiology nor pathophysiology are well understood. Imaging has great potential to enh...
