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.
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