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Cited by 179Prenatal Screening and DiagnosticsFetal and Pediatric Neurological DisordersCongenital Anomalies and Fetal Surgery

First and second trimester screening for fetal structural anomalies

Edwards, Lindsay, Hui, Lisa·2018·Seminars in Fetal and Neonatal Medicine
DOI 10.1016/j.siny.2017.11.005
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Abstract

Fetal structural anomalies are found in up to 3% of all pregnancies and ultrasound-based screening has been an integral part of routine prenatal care for decades. The prenatal detection of fetal anomalies allows for optimal perinatal management, providing expectant parents with opportunities for additional imaging, genetic testing, and the provision of information regarding prognosis and management options. Approximately one-half of all major structural anomalies can now be detected in the first trimester, including acrania/anencephaly, abdominal wall defects, holoprosencephaly and cystic hygromata. Due to the ongoing development of some organ systems however, some anomalies will not be evident until later in the pregnancy. To this extent, the second trimester anatomy is recommended by professional societies as the standard investigation for the detection of fetal structural anomalies. The reported detection rates of structural anomalies vary according to the organ system being examined, and are also dependent upon factors such as the equipment settings and sonographer experience. Technological advances over the past two decades continue to support the role of ultrasound as the primary imaging modality in pregnancy, and the safety of ultrasound for the developing fetus is well established. With increasing capabilities and experience, detailed examination of the central nervous system and cardiovascular system is possible, with dedicated examinations such as the fetal neurosonogram and the fetal echocardiogram now widely performed in tertiary centers. Magnetic resonance imaging (MRI) is well recognized for its role in the assessment of fetal brain anomalies; other potential indications for fetal MRI include lung volume measurement (in cases of congenital diaphragmatic hernia), and pre-surgical planning prior to fetal spina bifida repair. When a major structural abnormality is detected prenatally, genetic testing with chromosomal microarray is recommended over routine karyotype due to its higher genomic resolution.

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Authors
Edwards, L., & Hui, L.
Affiliations
  • Royal Hobart Hospital (AU)
  • The University of Melbourne (AU)
Corresponding author
Hui, Lisa
ORCID
Hui, Lisa
Venue
Seminars in Fetal and Neonatal Medicine
Publisher
Elsevier BV
Published
2018-04
Volume
23
Issue
2
Pages
102-111
ISSN
1744-165X (ISSN-L)
DOI
10.1016/j.siny.2017.11.005
OpenAlex
W2772189056
Cited by
179
References
57
Citations by year
2026: 13 · 2025: 25 · 2024: 28 · 2023: 27 · 2022: 27 · 2021: 26 · 2020: 20 · 2019: 9 · 2018: 4
FWCI
1.69
Type
journal article
Language
en
Open access
closed
Licence
www.elsevier.com/tdm/userlicense/1.0/ (tdm)
Locations
  • Seminars in Fetal and Neonatal Medicine (publishedVersion)
  • PubMed (publishedVersion)
Topics
  • Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Prenatal Screening and Diagnostics
  • Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Fetal and Pediatric Neurological Disorders
  • Health Sciences › Medicine › Surgery › Congenital Anomalies and Fetal Surgery
Keywords
fetal structural anomalies, prenatal ultrasound screening, first-trimester screening, anencephaly, acrania, abdominal wall defect, holoprosencephaly, cystic lymphangioma, fetal neurosonography, fetal echocardiography, fetal MRI, congenital diaphragmatic hernia, spina bifida, chromosomal microarray analysis, prenatal diagnosis
MeSH terms
Congenital Abnormalities, Female, Humans, Magnetic Resonance Imaging, Male, Pregnancy, Pregnancy Trimester, First, Pregnancy Trimester, Second, Prenatal Diagnosis, Ultrasonography, Prenatal, Practice Guidelines as Topic, Imaging, Three-Dimensional, Nuchal Translucency Measurement, Neuroimaging

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