Ultrasound Patterns in the First Trimester Diagnosis of Congenital Heart Disease

Herghelegiu, C.; Panaitescu, Anca Maria; Duţă, Simona; Vayna, Ana Maria; Ciobanu, Anca Marina; Bulescu, Cristian; Ioan, Raluca Gabriela; Neacşu, Adrian; Gică, Nicolae; Veduță, Alina

doi:10.3390/jcm10153206

Cited by 6 publications

(6 citation statements)

References 27 publications

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“…A recent meta-analysis showing that over half (56%) of fetuses affected by major cardiac pathology [ 44 ] are detected in the first trimester confirms this finding. It is hypothesized that if a structured protocol is followed with assessment of outflow tract views and color-flow Doppler imaging, detection rate will improve [ 44 , 45 ]. Another limitation emphasized by several studies is the high false-positive rate in the first trimester, since an anomaly identified in the first trimester may evolve or may be reclassified later in pregnancy [ 44 ].…”

Section: Discussionmentioning

confidence: 99%

Early Detection of Isolated Severe Congenital Heart Defects Is Associated with a Lower Threshold to Terminate the Pregnancy

Lugthart¹,

Verbaarschot²,

Nisselrooij³

et al. 2023

Fetal Diagn Ther

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Objective: Early detection of isolated severe congenital heart defects (CHDs) allows extra time for chromosomal analysis and informed decision making, resulting in improved perinatal management and patient satisfaction. The aim of this study was to assess the value of an additional first trimester scan compared to only a second trimester scan in fetuses diagnosed with isolated severe CHDs. Prenatal detection rates, time of prenatal diagnosis and pregnancy outcomes were evaluated in the Netherlands after implementation of a national screening program. Methods: We performed a retrospective geographical cohort study and included 264 pre- and postnatally diagnosed isolated severe CHD cases between 01-01-2007 and 31-12-2015 in the Amsterdam region. Two groups were defined: a first- and second trimester anomaly scan (Group 1), only a second trimester anomaly scan only (Group 2). A first trimester scan was defined as a scan between 11+0 and 13+6 weeks. Results: Overall, the prenatal detection rate for isolated severe CHDs was 65%, 63% were detected before 24 weeks of gestation (97% of all prenatally detected CHDs). Prenatal detection rate was 70.2% in the group with a first- and second trimester scan (Group 1) and 58% in the group with a second trimester scan only (Group 2) (p <0.05). Median gestational age at detection was 19+6 (interquartile range (IQR) 15+4 - 20+5) in Group 1 versus 20+3 (IQR 20+0 - 21+1) in Group 2 (p <0.001). In Group 1, 22% were diagnosed before 18 weeks of gestation. Termination of pregnancy rates in Group 1 and Group 2 were 48% and 27%, respectively (p <0.01). Median gestational age at termination did not differ between the two groups. Conclusion: Prenatal detection rates of isolated severe CHD and termination of pregnancy rates were higher in the group with a first- and second trimester scan. We found no differences between timing of terminations. The additional time after diagnosis allows for genetic testing and for optimal counselling of expectant parents regarding prognosis and perinatal management so that well-informed decisions can be made.

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Section: Discussionmentioning

confidence: 99%

Early Detection of Isolated Severe Congenital Heart Defects Is Associated with a Lower Threshold to Terminate the Pregnancy

Lugthart¹,

Verbaarschot²,

Nisselrooij³

et al. 2023

Fetal Diagn Ther

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Section: How Accurate Is An Early Cardiac Examination?mentioning

confidence: 99%

“…Sonographers experience and time allowed for a heart examination are among the most important factors that influence the ability to appropriately assess cardiac structures in the first trimester. 26,50 Botelli et al identified human error as the primary cause of false negative diagnoses. 51 The lack of operator's adaptational skills (rather circumstantial aspects) mainly impacts correct appreciation of CHDs in the second trimester and it is likely that such factors similarly affect the early detection rate.…”

Section: Counseling After a Suspected Cardiac Anomaly In First Trimestermentioning

confidence: 99%

Congenital heart anomalies in the first trimester: From screening to diagnosis

2023

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Congenital heart defects occur in approximately 1% of liveborn children and represent the most common form of congenital malformation. Due to the small size and complexity of the heart structures, prenatal diagnosis is most often made in the second trimester of pregnancy. Early diagnosis however offers significant advantages regarding the timing of further investigations, prenatal counseling, and access to management options. In the last decade, advances in antenatal imaging have improved the detection of cardiac malformations with increasing emphasis on earlier pregnancy screening and diagnosis. We aim to summarize current “state of the art” imaging of the fetal heart in the first trimester.

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“…Важным аспектом является преобразование данных в диагностический алгоритм, чтобы сориентировать врачей относительно наиболее вероятного типа ВПС и правильной постановки диагноза для каждого отдельного случая [14].…”

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Modern Possibilities of Ultrasound Diagnostics of Fetal Heart Defects

Хамидов¹,

Жураев²,

З.Н.³

et al. 2023

Репродуктивное Здоровье. Восточная Европа

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Актуальность исследуемой проблемы обусловлена недостатком систематизированной информации о современных возможностях ультразвуковой диагностики пороков сердца плода. Целью данного обзора являлось освещение вопросов эпидемиологии врожденных пороков сердца, причин этой патологии, ее скрининга, интерпретации результатов исследований, обучения специалистов и обсуждение других вышеназванных открытых вопросов современных возможностей ультразвуковой диагностики пороков сердца плода. Также в статье рассматривались вопросы выявления редких пороков сердца у плода, некоторые аспекты их лечения и принятия женщиной решения о прерывании беременности. Задачей исследования являлся отбор источников по рассматриваемой теме, анализ аргументации, систематизация и адаптация материалов исследований. Приведены результаты обзора литературы, касающейся скрининга ВПС, интерпретации показателей и других аспектов диагностики ВПС плода. В литературе отмечалось, что важная роль в современной ультразвуковой диагностике отводится автоматизированным системам и технологиям искусственного интеллекта, в том числе фетальной интеллектуальной навигационной эхокардиографии (FINE). Многие авторы сходились во мнении, что рутинная оценка сердца плода с помощью УЗИ позволит эффективно диагностировать врожденные пороки сердца во внутриутробном периоде. Также исследователи рекомендовали более индивидуальный и адаптированный протокол ведения для каждого случая с учетом факторов, связанных как с беременной женщиной, так и с плодом, включая отягощенный анамнез пациентки, ожирение, гестационный возраст плода и генетический статус плода и женщины. Материалы данной статьи могут быть использованы врачами различных специальностей для дополнения своих знаний и дальнейшего изучения различных аспектов УЗ-диагностики ВПС плода. The relevance of the studying problem is due to the lack of systematized information about the modern possibilities of ultrasound diagnosis of fetal heart defects. The purpose of this review was to highlight the epidemiology of congenital heart defects, the causes of this pathology, its screening, interpretation of research results, training of specialists and discussion of other above-mentioned open issues of modern possibilities of ultrasound diagnosis of fetal heart defects. The article also considered the issues of identifying rare heart defects in the fetus, some aspects of their treatment and a woman’s decision to terminate pregnancy. The objective of the study was to select sources on the topic under consideration, analyze arguments, systematize and adapt research materials. The results of the literature review concerning the screening of congenital heart defects, interpretation of the results and other aspects of the diagnosis of fetal congenital heart defects are presented. It was noted in the literature that an important role in modern ultrasound diagnostics is given to automated systems and artificial intelligence technologies, including fetal intelligent navigation echocardiography (FINE). Many authors agreed that a routine assessment of the fetal heart using ultrasound will effectively diagnose congenital heart defects in the prenatal period. The researchers also recommended a more individual and adapted management protocol for each case, taking into account factors related to both the pregnant woman and the fetus, including the presence of a burdened history in the patient, obesity, gestational age of the fetus and the genetic status of the fetus and the woman. The materials of this article can be used by doctors of various specialties to supplement their knowledge and further study various aspects of ultrasound diagnosis of fetal congenital heart defects.

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Ultrasound Patterns in the First Trimester Diagnosis of Congenital Heart Disease

Cited by 6 publications

References 27 publications

Early Detection of Isolated Severe Congenital Heart Defects Is Associated with a Lower Threshold to Terminate the Pregnancy

Early Detection of Isolated Severe Congenital Heart Defects Is Associated with a Lower Threshold to Terminate the Pregnancy

Congenital heart anomalies in the first trimester: From screening to diagnosis

Modern Possibilities of Ultrasound Diagnostics of Fetal Heart Defects

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