Non-invasive prenatal screening: A 20-year experience in Italy

Palka, Chiara; Guanciali-Franchi, Paolo; Morizio, Elisena; Alfonsi, Melissa; Papponetti, Marco; Sabbatinelli, Giulia; Palka, Giandomenico; Calabrese, Giuseppe; Benn, Peter

doi:10.1016/j.eurox.2019.100050

Cited by 4 publications

(2 citation statements)

References 58 publications

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“…Additionally, it enables healthcare professionals to distinguish between normal and abnormal findings. GA is also crucial when interpreting test results, such as the maternal triple-screen blood test, which is normally conducted and interpreted between the 15 th and 18 th week of pregnancy (4).…”

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confidence: 99%

Artificial Intelligence Prediction of Gestational Age of Fetal in Brain Magnetic Resonance Imaging versus ultrasound Using three different Biometric Measurements

Vahedifard,

Liu,

Marathu

et al. 2023

Preprint

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Accurately predicting a fetus's gestational age (GA) is of utmost importance in prenatal care. This study aimed to develop an artificial intelligence (AI) model that can automatically predict GA using biometric measurements derived from fetal brain mag-netic resonance imaging (MRI). Additionally, we aimed to assess the significance of con-sidering different references when interpreting GA predictions. To achieve this, we obtained measurements such as Biparietal Diameter (BPD), Fron-to-occipital Diameter (FOD), and Head Circumference (HC) from a dataset comprising 52 normal fetal MRI cases with T2 Haste sequences from Rush University. Both manual and AI-based methods were utilized to acquire these measurements. We also employed three reference papers (Garel, Freq, and Bio) for comparison purposes. The results demonstrated a strong correlation between manual and AI measure-ments, indicating consistency between the two methods. The AI-based measurement of HC exhibited a higher correlation with actual values compared to BPD, FOD, and correct-ed BPD (BPDC). When comparing these measurements with GA in the Picture Archiving and Communication System (PACS), the differences varied depending on the reference used. Specifically, the differences ranged from 0.47 to 2.17 weeks for BPD, 0.46 to 2.26 weeks for FOD, and 0.75 to 1.74 weeks for HC. Furthermore, the Pearson correlation coeffi-cient analysis revealed that all correlation coefficients between PACS records and GA pre-dictions using different references were greater than 0.97. In conclusion, the AI model based on fetal brain MRI accurately predicts GA by uti-lizing BPD, FOD, and HC measurements. The AI approach, which involves combining line segments to calculate fetal head circumference, offers improved accuracy and con-venience compared to manual estimation. This study underscores the potential of AI models in accurately estimating gestational age and highlights their utility in prenatal care. By integrating AI as a valuable tool in prenatal care, we can enhance the accuracy, ef-ficiency, and decision-making involved in assessing fetal development and monitoring pregnancies using MRI measurements.

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confidence: 99%

Artificial Intelligence Prediction of Gestational Age of Fetal in Brain Magnetic Resonance Imaging versus ultrasound Using three different Biometric Measurements

Vahedifard,

Liu,

Marathu

et al. 2023

Preprint

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“…Current modern antenatal ultrasound techniques 1 , 2 , 3 and screening tools, such as cell-free DNA, 4 , 5 have led to earlier diagnoses of chromosomal and structural anomalies and earlier terminations of pregnancy (TOPs). Despite the high diagnostic accuracy of these tests, formal perinatal autopsy has traditionally remained the reference standard of care in confirming suspected anomalies, particularly to direct counseling and future pregnancy management.…”

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confidence: 99%

Postmortem microfocus computed tomography for noninvasive autopsies: experience in >250 human fetuses

Shelmerdine

Simcock

Hutchinson

et al. 2021

American Journal of Obstetrics and Gynecology

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BACKGROUND: Noninvasive imaging autopsy alternatives for fetuses weighing <500 grams are limited. Microfocus computed tomography has been reported as a viable option in small case series with the potential to avoid an invasive autopsy. Implementation of postmortem microfocus computed tomography in a large cohort as part of routine clinical service has yet been unreported, and realistic "autopsy prevention rates" are unknown. OBJECTIVE: This study aimed to describe the range of abnormalities detectable on fetal microfocus computed tomography in a clinical setting and additional findings identified on the antenatal ultrasound and to estimate the invasive autopsy avoidance rate (ie, cases in which imaging was sufficient to deem autopsy unnecessary). STUDY DESIGN: A prospective observational case series of all fetuses referred for microfocus computed tomography imaging at a single institution was conducted for 3 years (2016e2019). Imaging was reported by 2 pediatric radiologists before autopsy, with "decision to proceed" based on the specialist perinatal pathologists' judgment and parental consent. Agreement rates between microfocus computed tomography and antenatal ultrasound were evaluated, and where feasible, diagnostic accuracy for microfocus computed tomography was calculated using autopsy as a reference standard. RESULTS: A total of 268 fetuses were included (2e350 grams body weight; 11e24 weeks' gestation), with cause for demise in 122 of 268 (45.5%). Of the 122 fetuses, 64 (52.5%) exhibited fetal anomalies. Although 221 of 268 (82.5%) fetuses had consent for invasive autopsy, only 29 of the 221 (13.1%) underwent this procedure, which implied an autopsy avoidance rate of 192 of 221 (86.9%). Complete agreement was present for all brain, thoracic, and abdominal pathologies, whereas sensitivity and specificity for cardiac anomalies were 66.7% and 91.7%, respectively. Microfocus computed tomography and antenatal ultrasound agreement was found in 219 of 266 cases (81.9%), with partial agreement in 21 of 266 (7.9%) and disagreement in 26 of 266 (10.5%), mostly because of additional cardiac, soft tissue, or genitourinary findings by microfocus computed tomography, which were not seen on the ultrasound. CONCLUSION: Fetal microfocus computed tomography imaging is a viable and useful tool for imaging early gestational fetuses and can avoid the need for invasive autopsy. Confirmation of antenatal diagnoses is achieved in most cases, and additional anomalies may also be detected.

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Performance capabilities of prenatal diagnosis of chromosomal anomalies: what changed with the introduction of non-invasive prenatal test (NIPT)?

Бурка¹,

Cherevashko²,

Martynova³

et al. 2021

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This review systematizes scientific data on the possibilities and limitations of combined prenatal screening for detecting common chromosomal abnormalities (CA) in the first trimester of pregnancy, as well as an innovative technology – non-invasive prenatal test (NIPT) based on free fetal DNA fraction. A review of current clinical guidelines on the place of NIPT in models of prenatal screening, the experience of various countries on the implementation of NIPT in national programs for prenatal screening of CA was carried out. Also, a synthesis of evidence and expert opinions on the controversial issues of the feasibility of using the extended options of NIPT (beyond the identification of common aneuploidies as trisomy 21, 13, 18) was carried out, a review of current data on the possibilities and limitations of various NIPT techniques was carried out.Despite the general increase in the sensitivity of prenatal screening for CA due to the combination of clinical, biochemical and ultrasound indicators, its main disadvantage is insufficient specificity (the frequency of false positive results of 5%). One of the ways to increase the effectiveness of prenatal screening for CA is the study of free fraction of fetal DNA (NIPT). According to a 2017 meta-analysis, the sensitivity of NIPT is more than 99% for trisomy 21, 98% for trisomy 18, and 99% for trisomy 13 with a specificity of 99%. This high efficacy has been confirmed in subsequent studies, making NIPT the best screening test for the most common trisomies – Down syndrome (trisomy 21), Edwards syndrome (trisomy 18) and Patau syndrome (trisomy 13). NIPT can be used as the first line of prenatal screening or as a second line after combined first trimester screening.Since 2015, NIPT has been included in the clinical guidelines of international and national professional societies. Common to the 11 reviewed documents is the recognition of NIPT as an important tool for increasing the efficiency of prenatal detection of CA, information about which should be provided to all pregnant women.In order for the pregnant woman to receive the maximum benefit from NIPT, pre- and post-test counseling with an explanation of the possibilities and limitations of the method in general and in the given clinical situation is crucial.

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Non-invasive prenatal screening: A 20-year experience in Italy

Cited by 4 publications

References 58 publications

Artificial Intelligence Prediction of Gestational Age of Fetal in Brain Magnetic Resonance Imaging versus ultrasound Using three different Biometric Measurements

Artificial Intelligence Prediction of Gestational Age of Fetal in Brain Magnetic Resonance Imaging versus ultrasound Using three different Biometric Measurements

Postmortem microfocus computed tomography for noninvasive autopsies: experience in >250 human fetuses

Performance capabilities of prenatal diagnosis of chromosomal anomalies: what changed with the introduction of non-invasive prenatal test (NIPT)?

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