The DOI matches its Crossref record; 57 of the 57 references it cites were found in a registry or an index.
First and second trimester screening for fetal structural anomalies
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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“In experts' hands, most clinically important structural anomalies can be detected 1 .”
From ISUOG Practice Guidelines (updated): performance of the routine mid‐trimester fetal ultrasound scan (2022) · cites this paper as [1]
Citations
Cites
Chromosomal microarray versus karyotyping for prenatal diagnosis
Wapner, R. J., Martin, C. L., Levy, B., Ballif, B. C., Eng, C. M., Zachary, J. M., Savage, M., Platt, L. D., Saltzman, D., Grobman, W. A., et al. (2012) · New England Journal of Medicine · doi:10.1056/nejmoa1203382 · Cited by 1,412
Practice guidelines for performance of the routine mid-trimester fetal ultrasound scan
Salomon, L. J., Alfirevic, Z., Berghella, V., Bilardo, C., Hernandez‐Andrade, E., Johnsen, S. L., Kalache, K., Leung, K. ‐., Malinger, G., Munoz, H., et al. (2011) · Ultrasound in Obstetrics & Gynecology · doi:10.1002/uog.8831 · Cited by 1,006
Screening for fetal aneuploidies at 11 to 13 weeks
Nicolaides, K. H. (2011) · Prenatal Diagnosis · doi:10.1002/pd.2637 · Cited by 644
ISUOG Practice Guidelines: performance of first‐trimester fetal ultrasound scan
(2013) · Ultrasound in Obstetrics & Gynecology · doi:10.1002/uog.12342 · Cited by 621
Paladini, D., Malinger, G., Monteagudo, A., Timor Tritsch, I., Toi, A., & Pilu, G. (2007) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.3909 · Cited by 577
The performance of routine ultrasonographic screening of pregnancies in the Eurofetus Study
Grandjean, H., Larroque, D., & Levi, S. (1999) · American Journal of Obstetrics and Gynecology · doi:10.1016/s0002-9378(99)70577-6 · Cited by 544
Accuracy of Ultrasonography and Magnetic Resonance Imaging in the Diagnosis of Placenta Accreta
Warshak, C. R., Eskander, R. N., Hull, A., Scioscia, A. L., Mattrey, R. F., Benirschke, K., & Resnik, R. R. (2006) · Obstetrics and Gynecology · doi:10.1097/01.aog.0000233155.62906.6d · Cited by 513
Challenges in the diagnosis of fetal non‐chromosomal abnormalities at 11–13 weeks
Syngelaki, A., Chelemen, T., Dagklis, T., Allan, L. D., & Nicolaides, K. H. (2011) · Prenatal Diagnosis · doi:10.1002/pd.2642 · Cited by 497
Ultrasound for fetal assessment in early pregnancy
Whitworth, M. K., Bricker, L., & Mullan, C. (2015) · Cochrane Database of Systematic Reviews · doi:10.1002/14651858.cd007058.pub3 · Cited by 497
Crane, J. P., LeFevre, M. L., Winborn, R. C., Evans, J. K., Ewigman, B., Bain, R. P., FRIGOLETTO, F. D., & McNellis, D. (1994) · American Journal of Obstetrics and Gynecology · doi:10.1016/s0002-9378(94)70040-0 · Cited by 387
Research works printed but not linked: 1
- Karim, 2016, Systematic review of first trimester ultrasound screening in detecting fetal structural anomalies and factors affecting screening performance, Ultrasound Obstet Gynecol
Cited by
Sorted by citations
ISUOG Practice Guidelines (updated): performance of the routine mid‐trimester fetal ultrasound scan
Salomon, L. J., Alfirevic, Z., Berghella, V., Bilardo, C. M., Chalouhi, G. E., Da Silva Costa, F., Hernandez‐Andrade, E., Malinger, G., Munoz, H., Paladini, D., et al. (2022) · Ultrasound in Obstetrics & Gynecology · doi:10.1002/uog.24888 · Cited by 436
Deden, C., Neveling, K., Zafeiropopoulou, D., Gilissen, C., Pfundt, R., Rinne, T., de Leeuw, N., Faas, B. H. W., Gardeitchik, T., Sallevelt, S. C. E. H., et al. (2020) · Prenatal Diagnosis · doi:10.1002/pd.5717 · Cited by 89
“Although this increase in diagnoses enabled more accurate prediction of pregnancy outcome, providing parents more certainty in prenatal decision making, the contribution of skeletal anomalies only accounts for around 30% of all fetal congenital anomalies.(15,16) The efficacy of adopting rWES as a first tier test for t…”
BackgroundA system‐based approach to the genetic etiologies of non‐immune hydrops fetalis
Mardy, A. H., Chetty, S., Norton, M. E., & Sparks, T. N. (2019) · Prenatal Diagnosis · doi:10.1002/pd.5479 · Cited by 59
Applications of Advanced Ultrasound Technology in Obstetrics
Leung, K. Y. (2021) · Diagnostics · doi:10.3390/diagnostics11071217 · Cited by 55
“While 2D ultrasound is a key tool for the detection of fetal anomalies, there are some anomalies such as facial clefts, micrognathia, and club foot in which 3D ultrasound may provide additional information or help counseling when such anomaly is suspected [9].”
BackgroundShahrivar, R. Y., Karami, F., & Karami, E. (2023) · Biomimetics · doi:10.3390/biomimetics8070519 · Cited by 63
“Structural anomalies in fetuses can be detected in approximately 3% of all pregnancies [9].”
Background
Metadata
- 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)
- 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
- 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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