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

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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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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
Sonographic examination of the fetal central nervous system: guidelines for performing the ‘basic examination’ and the ‘fetal neurosonogram’
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
A randomized trial of prenatal ultrasonographic screening: Impact on the detection, management, and outcome of anomalous fetuses
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

Show all 57 references

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

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Belay, D. B., Fentaw, K. D., Ali, M. I., Rad, N. N., & Chen, D. (2025) · The Open Public Health Journal · doi:10.2174/0118749445364279250127113431 · Cited by 4
Success rate to complete optimal 20 + 2 ISUOG planes for foetal ultrasonographic structural screening during early second trimester pregnancy in Thailand
Chaichanalap, R., & Hanprasertpong, T. (2021) · The Ultrasound Journal · doi:10.1186/s13089-021-00238-2 · Cited by 4
Diagnostic Value and High-Risk Factors of Two-Dimensional Ultrasonography Combined with Four-Dimensional Ultrasonography in Prenatal Ultrasound Screening of Fetal Congenital Malformations
Yu, X., Liu, F., Gao, W. D., Shi, X., Lu, R., & Pan, L. (2022) · Computational and Mathematical Methods in Medicine · doi:10.1155/2022/7082832 · Cited by 4
“Antenatal examination for structural abnormalities provides prospective parents with an opportunity to obtain early information about fetal structural abnormalities, including the nature, etiology, prognosis, and the feasibility of prenatal or postpartum treatment [10].”
Background
Informed choice and routinization of the second-trimester anomaly scan: a national cohort study in the Netherlands
Lust, E. E. R., Bronsgeest, K., Henneman, L., Crombag, N. M. T. H., Bilardo, C. M., van Vliet‐Lachotzki, E. H., Galjaard, R. H., Sikkel, E., Haak, M. C., & Bekker, M. N. (2023) · BMC Pregnancy and Childbirth · doi:10.1186/s12884-023-05981-z · Cited by 4
“The second-trimester anomaly scan (SAS) screens for fetal structural anomalies at a gestational age (GA) of 18–21 weeks [1, 2].”
Background
Second-trimester abortion and risk of live birth
Auger, N., Brousseau, É., Ayoub, A., & Fraser, W. D. (2023) · American Journal of Obstetrics and Gynecology · doi:10.1016/j.ajog.2023.11.004 · Cited by 4
Prevalence of anomalies on the routine mid‐trimester ultrasound: 3172 consecutive cases by a single maternal–fetal medicine specialist
Walsh, C. A., & Lees, N. (2023) · Australasian Journal of Ultrasound in Medicine · doi:10.1002/ajum.12369 · Cited by 4
Prediction and Value of Ultrasound Image in Diagnosis of Fetal Central Nervous System Malformation under Deep Learning Algorithm
Zhou, Y. (2021) · Scientific Programming · doi:10.1155/2021/6246274 · Cited by 4
“Previous research results have shown that the most feasible period for the examination of the fetal shape and fetal structure is the second trimester, which could display the fetal central nervous system and its growth and development more clearly, showing the significance of ultrasound in clinical scan of fetal CNSM…”
Result
A two‐year prospective study assessing the performance of fetal chromosomal microarray analysis and next‐generation sequencing in high‐risk pregnancies
Ridnõi, K., Muru, K., Keernik, M., Pajusalu, S., Ustav, E., Tammur, P., Mölter‐Väär, T., Kahre, T., Šamarina, U., Asser, K., et al. (2021) · Molecular Genetics & Genomic Medicine · doi:10.1002/mgg3.1787 · Cited by 3
“Approximately 2– 3% of all pregnancies are complicated by fetal structural anomalies (Edwards & Hui, 2018).”
Background
Mapping Fetal Brain Development of 10 Weeks’ Gestational Age with 9.4T Postmortem MRI and Histologic Sections
Zhang, Z., Gao, Y., Lin, X., He, X., Wang, X., & Liu, S. (2024) · American Journal of Neuroradiology · doi:10.3174/ajnr.a8595 · Cited by 3
Retrospective analysis of the indications, methods, and complications of pregnancy termination
Ağaoğlu, Z., Tanaçan, A., Haksever, M., Coskun, H. E., İpek, G., Denızlı, R., Kara, Ö., & Şahın, D. (2024) · Journal of Turkish Society of Obstetric and Gynecology · doi:10.4274/tjod.galenos.2024.88886 · Cited by 3
“Major fetal anomalies are detected in 2-3% of all live births (1) .”
Anatomical structures detection using topological constraint knowledge in fetal ultrasound
Guo, J., Tan, G., Lin, J., Pu, B., Wen, X., Wang, C., Li, S., & Li, K. (2024) · Neurocomputing · doi:10.1016/j.neucom.2024.129143 · Cited by 3
Coding and Legal Issues in Obstetric and Gynecologic Ultrasound
Shwayder, J. M., Copel, J. A., & Stohl, H. E. (2019) · Obstetrics and Gynecology Clinics of North America · doi:10.1016/j.ogc.2019.07.012 · Cited by 3
Obstetric Ultrasound Screening in a Rural Area of Lebanon One Small Step With a Promising Major Impact
Snaifer, E., Hassan, H., Daher, L., Sabbagh, A. E., Farah, M., Farekh, I., & Chalouhi, G. E. (2020) · Journal of Ultrasound in Medicine · doi:10.1002/jum.15423 · Cited by 3
“On another hand, the reported detection rates of structural anomalies vary according to the organ system being examined, to the severity of the reported anomalies and are also dependent upon factors such as the equipment settings and sonographer experience.(18) In our study, we found that neurological, urinary and car…”
Background
Differences in Prenatal and Postnatal Phenotypic Evaluations in Patients With Congenital Anomalies and Known Genetic Diagnoses
Horton, N., Tolusso, L., Widmeyer, K. M., He, H., & Swarr, D. T. (2025) · Prenatal Diagnosis · doi:10.1002/pd.6810 · Cited by 3
“Compared to what is noted at delivery, approximately half of major structural anomalies can be detected in the first trimester, but the detection rates vary significantly depending on the organ system [9].”
Karyotyping and Chromosomal Microarray Analysis in Women Requesting Amniocentesis for Isolated Sonographic Soft Markers or Advanced Maternal Age
Tzela, P., Antonakopoulos, N., Anastasopoulos, P., & Gourounti, K. (2021) · Acta Informatica Medica · doi:10.5455/aim.2021.29.288-292 · Cited by 3
“There are limitations, however, as ultrasound can exclude fetal structural anomalies by less than 70% in general and in some anatomical systems, such as the cardiovascular system, this percentage is significantly lower (3).”
Background
First trimester ultrasound in the age of cell‐free DNA screening: What are we missing?
Ramdaney, A., Mulligan, S., Wittman, T., & Wagner, C. (2022) · Prenatal Diagnosis · doi:10.1002/pd.6139 · Cited by 5
“Though many fetal findings are not apparent until the second trimester, approximately 50% of all major structural anomalies, including acrania/anencephaly, abdominal wall defects, holoprosencephaly and cystic hygroma, may be detected in the first trimester.(10,11) Recently, ACOG recommended that prenatal aneuploidy sc…”
Background
Real-time artificial intelligence for detection of Fetal Intracranial malformations in Ultrasonic images: A multicenter retrospective diagnostic studyPreprint
Lin, M. F., He, X., Hao, C., He, M., Guo, H., Zhang, L., Xian, J., zheng, J., Xu, Q., Feng, J., et al. (2020) · doi:10.22541/au.158880224.43356313 · Cited by 2
Ongoing reanalysis of prenatal exome sequencing data leads to higher diagnostic yield
Li, L. ‐., & Li, D. (2022) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.24923 · Cited by 3
Factors associated with late gestational age of diagnosis and/or delayed referral of fetuses with major structural malformations: A study in a tertiary care hospital in South India
Yadav, M. C., Gowda, M., Chinta, N., Deodhare, K. G., & Murugesan, S. (2023) · Prenatal Diagnosis · doi:10.1002/pd.6431 · Cited by 2
Drivers of care and outcomes for people facing fetal conditions in the United States: a conceptual framework
Wilpers, A. B., & Lorch, S. A. (2025) · Journal of Perinatology · doi:10.1038/s41372-025-02340-y · Cited by 2
“These systemic privileges predispose community members to timely prenatal care entry and routine check-ups, increasing the likelihood of detecting fetal conditions early [11 – 13].”
Diagnostic Impact of Fetal MRI in 556 Fetuses: Where It Adds Value Beyond Ultrasound
Çakır, Z. E., Gölbaşı, H., Torun, R., Sağlam, C., Gercik, I., Aktaş, H. A., Can, S. T., Toka, I. G., Uçar, İ., Sarıoğlu, F. C., et al. (2025) · Journal of Clinical Medicine · doi:10.3390/jcm14196690 · Cited by 2
“The detection of fetal anomalies is essential for parental counseling as well as prenatal and postnatal management [8–10].”
Undetected cases after implementation of first‐trimester anomaly scan in low‐risk population: insights from the IMITAS study
Bronsgeest, K., Lust, E. E. R., Zaaijer, S. C. E., Henneman, L., Crombag, N. M. T. H., Bilardo, C. M., Galjaard, R. H., Sikkel, E., Teunissen, A. K. K., Bekker, M. N., et al. (2025) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.70131 · Cited by 2
A Survey on Genetic Disorder Prediction of Fetus from Ultrasound-Based Computer-Aided Diagnosis
Anitha, A., & Balaji, S. (2022) · International Conference on Electronics, Communication and Aerospace Technology (ICECA) · doi:10.1109/iceca55336.2022.10009264 · Cited by 2
“There have been a few preliminary studies [28] evaluating the use of rWES as a primary screening tool for the whole range of congenital abnormalities revealed by standard ultrasound imaging in pregnant women.”
Background
Ultrasound in the First Trimester: How to Keep It Safe
Abramowicz, J. S. (2023) · Springer eBooks · doi:10.1007/978-3-031-24133-8_1 · Cited by 2
The Construction of an Intrauterine Diagnosis and Treatment System and Comprehensive Lifecycle Health Service of Congenital Heart Disease: Xinhua Hospital Model
Jiang, S., Ye, J., Wáng, H., Wang, J., Chen, S., Zhang, Y., Du, Q., Yang, L., Wang, L., & Sun, K. (2023) · Cardiology Discovery · doi:10.1097/cd9.0000000000000089 · Cited by 2
Consecutive 5-year outcomes of chorionic villus sampling at a tertiary center
Kuyucu, M., Erdoğan, K. M., Adıyaman, D., Atakul, B. K., Gölbaşı, H., Kutbay, Y. B., Karasu, A. F. G., & Özeren, M. (2025) · Medicine · doi:10.1097/md.0000000000041582 · Cited by 2
HOLOPROSENCEPHALY
Kruszka, P. S., Gropman, A. L., & Muenke, M. (2020) · doi:10.1002/9781119432692.ch31 · Cited by 2
Anamoly scan: A mandatory screening tool
Maini, M., Maan, M., & Kathpalia, S. K. (2022) · Indian Journal of Obstetrics and Gynecology Research · doi:10.18231/j.ijogr.2022.113 · Cited by 1
Neurosonography Compared to Fetal Magnetic Resonance Imaging: A Systematic Review and Meta-Analysis on the Diagnostic Agreement and Added Value
Yazdi, S. N. M., Parooie, F., Kazemi, M. A., Shirazi, M., Azadbakht, J., & Moradi, B. (2023) · Journal of diagnostic medical sonography · doi:10.1177/87564793231167429 · Cited by 1
Basic or detailed morphology scan in mid-trimester?
Leung, K. (2024) · Hong Kong Medical Journal · doi:10.12809/hkmj2310772 · Cited by 1
“5,13,14”
Antenatal reproductive screening for pregnant people including preconception: Provides the best reproductive opportunity for informed consent, quality, and safety
Wilson, R. D. (2024) · Best Practice & Research Clinical Obstetrics & Gynaecology · doi:10.1016/j.bpobgyn.2024.102520 · Cited by 2
Characteristics of Fetal Deaths due to Congenital Anomalies in Korea and Annual Trends from 2009–2020: A Retrospective Study in Korea
Song, Y. W., Oh, J. S., Yoon, J. M., Ko, K. O., Lee, S. K., Kim, T. Y., & Lim, J. W. (2024) · Perinatology · doi:10.14734/pn.2024.35.3.92 · Cited by 1
Fetal Neck Pathology
Vlădăreanu, R., & Berceanu, C. (2024) · Donald School Journal of Ultrasound in Obstetrics & Gynecology · doi:10.5005/jp-journals-10009-2051 · Cited by 1
Prevalence and prenatal diagnosis of major congenital anomalies in Dubai: first insights and emerging patterns in a multicenter cohort study
Minsart, A.-F., Adam, H., Ghenimi, N., Tahlak, M., Mirza, F., Akbar, A., & Sairam, S. (2025) · BMC Pregnancy and Childbirth · doi:10.1186/s12884-025-07934-0 · Cited by 1
“It has been shown that superior detection rates are associated with dedicated ultrasound practices and tertiary care facilities [8, 10–13].”
Influential
Detection of fetal structural abnormalities at 20 and 30 weeks: a retrospective study of prenatal ultrasound screening
Kamihara, Y., OZAWA, K., Ogawa, K., Muromoto, J., Sugibayashi, R., Wada, S., & Sago, H. (2025) · Journal of Medical Ultrasonics · doi:10.1007/s10396-025-01609-1 · Cited by 1
“Fetal structural abnormalities are generally found in 2–3% of all pregnancies [1], but our observed rate was lower than this reported range.”
Influential
Prenatal Diagnosis of Malformations of Cortical Development: A Review of Genetic and Imaging Advances
Hu, J., Xu, X. G., Jiang, P., Huang, R., Yuan, J., Lu, L. Z.-B., & Han, J. (2026) · Biomedicines · doi:10.3390/biomedicines14010107 · Cited by 2
“Despite this, the imaging phenotypes of fetal MCD are often complex and non-specific, making it difficult to accurately identify potential molecular causes, assess prognosis, and predict recurrence risk based solely on imaging [9–12].”
Placenta, Abnormal Conception, and Prematurity
Sergi, C. M. (2020) · Springer eBooks · doi:10.1007/978-3-662-59169-7_18 · Cited by 1
Visualisation of fetal meconium on post-mortem magnetic resonance imaging scans: a retrospective observational study
Hyde, G. A., Fry, A., Raghavan, A., & WHITBY, E. H. (2020) · Acta Radiologica Open · doi:10.1177/2058460120970541 · Cited by 1
“Fetal structural abnormalities are primarily identified by ultrasonography (US) as part of routine antenatal care.(1) Although cost-effective and widely used, US is limited in the amount of information it can provide.”
Background

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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First and second trimester screening for fetal structural anomalies

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