| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 5690996 | Best Practice & Research Clinical Obstetrics & Gynaecology | 2017 | 54 Pages |
Abstract
Advances in research and technology have resulted in the availability of non-invasive prenatal testing from 10 weeks of gestation. This has facilitated the detection of the three major chromosomal aneuploidies at very early gestation. However, there are a wide range of genetic syndromes that are not confined to the main trisomies. There are specific markers on ultrasound that can be linked to specific syndromes. Hence, a structured and stepwise approach is needed to identify and reach a possible diagnosis. As anomalies are classified into malformations, deformations and disruptions, it is important to note that not all markers detected are due to genetic syndromes and not all genetic syndromes can be detected on ultrasound scan. In this chapter, we outline common structural markers and their association with main genetic syndromes.
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Authors
Janani (Sub-speciality Trainee in Maternal-Fetal Medicine), Basky (Professor of Fetal Medicine),