Approach to Screening for Aneuploidy in First Trimester

Abstract

First trimester ultrasound is done to confirm pregnancy and the location of the fetus, identify the number of gestations and their viability, and most importantly, to date the pregnancy as at this stage, it is less prone to biological variations. The natural extension of this approach is screening the fetuses for chromosomal abnormalities, and assessment for anomalies. Ultrasound guides invasive testing and helps in assessing cervical length. This article focuses on the first trimester screening protocols for assessing aneuploidies and for the early detection of fetal anomalies.

Induced labour in pregnancy with congenital abnormalities: clinical indications or patient demand

“…12 Chromosomal abnormalities can be determined based on pathognomonic marks on ultrasound examination in clinical, but even so it will be more accurate when the karyotyping examination is performed. 14,15 In the state of severe chromosomal abnormalities can be diagnosed with multiple congenital abnormalities. 16 For example, in trisomy 21 can be heart, gastrointestinal and long bone growth abnormalities.…”

Advancing Horizons in Fetal Medicine

“…The year saw the publication, in the Journal, of the guidelines of anomalies scan in the second trimester [11], rule-of-three second trimester scan popularized by Suresh [12], the first trimester scan to detect aneuploidies using nuchal translucency, nasal bone, ductus venosus, tricuspid valve, and facial angle [13], utility of prefrontal space [14], and the correct method to record nuchal translucency [15]. The Society has been active in developing more guidelines for ultrasonologists and fetal medicine specialists and we hope to publish these in 2015.…”