Division of Maternal and Fetal Medicine, Ob/Gyn & Women's Health Institute, Cleveland Clinic, Cleveland, OH (Dr Hopkins).
Divisions of Maternal and Fetal Medicine and Reproductive Genetics, Department of Obstetrics and Gynecology, Hospital of the University of Pennsylvania, Perelman School of Medicine, Philadelphia, PA (Dr Dugoff).
Am J Obstet Gynecol MFM. 2022 Mar;4(2S):100499. doi: 10.1016/j.ajogmf.2021.100499. Epub 2021 Oct 8.
All pregnant women should be offered screening for aneuploidy. Twin pregnancies present unique challenges in aneuploidy screening. This review describes available aneuploidy screening options and their benefits and limitations in twin pregnancy, along with describing special circumstances, such as vanishing twins and diagnostic testing in twin pregnancy. No method of aneuploidy screening is as accurate in twin pregnancies as singleton pregnancies. Cell-free DNA screening should be considered a first-line approach; however, this option may not be available or may have limitations in certain clinical scenarios, such as vanishing twins. If cell-free DNA screening is not available, nuchal translucency and/or maternal serum marker screening can be offered.
所有孕妇都应接受非整倍体筛查。双胎妊娠在非整倍体筛查方面具有独特的挑战。本文描述了双胎妊娠中可用的非整倍体筛查方法及其优缺点，并描述了特殊情况，如双胎妊娠中的消失胎儿和诊断性检测。在双胎妊娠中，没有一种非整倍体筛查方法像单胎妊娠那样准确。游离 DNA 筛查应被视为一线方法；然而，在某些临床情况下，如消失胎儿，该方法可能不可用或有局限性。如果游离 DNA 筛查不可用，则可以提供颈项透明层和/或母体血清标志物筛查。
