Abstract
Introduction: Fetal hydrops describes abnormal fluid accumulation in two or more extravascular fetal compartments. It is a poor prognostic sign in a fetus, and many will not survive to term. Fetal hydrops is a clinical sign rather than a diagnosis and has a multitude of different causes. Areas covered: This review focusses on nonimmune fetal hydrops. We discuss in detail the most common etiologies such as infection and chromosomal abnormalities and cover rarer presentations of congenital malformation and single-gene disorders. We present a decision tree for the investigation of affected pregnancies. Expert opinion: The current approach to the investigation of fetal hydrops largely revolves around identifying the abnormal pathophysiology via ultrasound imaging. We believe that as genomic testing of a pregnancy can be undertaken with increasing accuracy, speed, accessibility and at reduced cost, genetic testing will feature earlier in the future diagnostic pathway.
Original language | English |
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Pages (from-to) | 51-66 |
Number of pages | 16 |
Journal | Expert Opinion on Orphan Drugs |
Volume | 8 |
Issue number | 2-3 |
DOIs | |
Publication status | Published - 3 Mar 2020 |
Externally published | Yes |
Bibliographical note
Publisher Copyright:© 2020, © 2020 Informa UK Limited, trading as Taylor & Francis Group.
Keywords
- Fetal
- exome
- genomic
- hydrops
- lymphatic
- nonimmune fetal hydrops
- noninvasive prenatal diagnosis
- prenatal
- rasopathy
- ultrasound