Genetic Sonogram: Components and Role in the Era of Prenatal Screening

Benn, Kiesha; Benn, Peter; Campbell, Winston A.; Moaddab, Amirhossein; Shamshirsaz, Alireza A.

doi:10.1017/s096553951500008x

Cited by 7 publications

(5 citation statements)

References 39 publications

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“…While major structural abnormalities occur in approximately 25% of fetuses with chromosomal abnormalities, at least 50% of affected fetuses show one or more "soft" markers (Raniga et al, 2006). One major malformation or multiple markers significantly elevates chromosomal aberration risk, leading to genetic counseling and invasive testing in some cases (Benn et al, 2014).…”

Section: Introductionmentioning

confidence: 99%

The likelihood of detecting abnormal karyotypes in fetuses with a single major anomaly or “soft” marker on ultrasonographic scanning

Petrovic,

Milicevic,

Sljivancanin

et al. 2024

Clinical Dysmorphology

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Objective Fetuses with abnormal karyotypes often exhibit distinctive ultrasonographic markers, including major anomalies and “soft” markers, indicating potential chromosomal issues. A crucial consideration arises when a single fetal anomaly is detected, raising the question of whether karyotyping is warranted, given the associated procedural risks. Our objective was to establish correlations between single fetal anomalies identified through ultrasound and chromosomal abnormalities. Methods A cross-sectional study analyzed the karyotype of 1493 fetuses and detected a single ultrasonographic anomaly over a 16-year period. Karyotyping was performed using the standard karyotype technique. Moreover, data regarding the type of anomaly detected ultrasonographically, karyotype results, and outcomes following interventions were collected. Among other methods, the use of positive likelihood ratios (LR+) was used to evaluate the diagnostic accuracy of ultrasound compared to karyotyping. Results In total, an aberrant karyotype was identified in 99 fetuses (6.6%). This was most commonly observed in cases involving a “soft” marker, occurring in 27 out of 218 fetuses (12.4%). The most frequently detected aberrant karyotype resulted from aneuploidies (80.6% of cases), notably trisomy 21 (50.5%). “Soft” markers predicted chromosomal issues (LR+ = 1.9; OR = 2.4), and isolated polyhydramnios (LR+ = 1.54; OR = 1.6) showed significance in predicting fetal chromosomal aberrations. Conclusion When assessing the necessity for karyotyping in fetuses with single major anomalies or “soft” markers, it is crucial to consider individual risks for chromosomopathies, including the LR+ of the detected marker. In cases where fetuses exhibit isolated anomalies with a normal karyotype, additional diagnostic measures, such as molecular cytogenetic and molecular genetics techniques, may become necessary.

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Section: Introductionmentioning

confidence: 99%

The likelihood of detecting abnormal karyotypes in fetuses with a single major anomaly or “soft” marker on ultrasonographic scanning

Petrovic,

Milicevic,

Sljivancanin

et al. 2024

Clinical Dysmorphology

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“…During the last five decades, a dream of humankind has come true; what was previously purely science fiction is now reality: owing to the technical progress over this period it became routine and commonplace that pregnant women could obtain sound “prenatal information”, regarding the health of their unborn child [ 1 ]. At first, there is the opportunity to visualize the unborn child by ultrasound imaging [ 2 ]. While progress in sonographic approaches were already striking [ 2 ], the fast developments of (cyto-) genetics and genomics opened new and previously unexpected ways to even obtain information, concerning the genetic status of a fetus [ 1 ].…”

Section: Introductionmentioning

confidence: 99%

“…At first, there is the opportunity to visualize the unborn child by ultrasound imaging [ 2 ]. While progress in sonographic approaches were already striking [ 2 ], the fast developments of (cyto-) genetics and genomics opened new and previously unexpected ways to even obtain information, concerning the genetic status of a fetus [ 1 ]. There are two major principle modalities to perform prenatal genetic diagnostics: either by (i) invasive or by (ii) non-invasive means [ 3 ].…”

Section: Introductionmentioning

confidence: 99%

“…Conversely, non-invasive tests do not disturb the fetal or placental tissues at all; they depend on sonography, on proteins or free placental DNA accessible from the maternal blood. While all, so-called “non-invasive prenatal diagnostic approaches,” are in reality screening tests, it is only invasive tests, based on fetal tissue that can provide clear answers on whether the unborn has a specific genetic condition or not [ 1 , 2 , 3 ].…”

Section: Introductionmentioning

confidence: 99%

“…The newest non-invasive prenatal diagnostic test approach is the so-called non-invasive prenatal testing (NIPT), also referred to as non-invasive prenatal screening (NIPS) or non-invasive prenatal diagnostics (NIPD). However, the wording NIPD should not be used, as NIPT is clearly a screening test [ 1 , 2 , 3 ]. As highlighted in Table 1 , the only non-invasive approach assessing fetal tissues is the study of fetal nucleated erythrocytes from the maternal blood [ 9 ].…”

Section: Introductionmentioning

confidence: 99%

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Non-Invasive Prenatal Testing in Germany

et al. 2022

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In the short 10 years following the introduction of non-invasive prenatal testing (NIPT), it has been adapted in many countries around the world as a standard screening test. In this review, this development was analyzed with a special focus on Germany. As a result, it can be stated that all known advantages of NIPT apart from “compensating for having no access to centers offering invasive diagnostics” are valid for Germany. In addition, following a review of the international literature, all documented issues with NIPT are also observed in Germany. However, the German Gene Diagnostics Act (GenDG) addresses a number of these issues, for example, the regulations by GenDG hamper induced abortions, based exclusively on an abnormal NIPT result. At the same time, GenDG has created new problems, as a possible collusion between the “right not to know with regard to parts of the examination result” may occur, or that the sex of the fetus must not be reported to the pregnant woman before the 12th week of gestation. Main conclusions drawn are that appropriate training and the continuing education of the physicians providing NIPT-related counseling are needed, as well as the provision of balanced and comprehensive information for the pregnant woman or the couple that is imperative.

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Fetal Surgery

Belfort

Shamshirsaz

2021

Genetic Disorders and the Fetus

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Genetic Sonogram: Components and Role in the Era of Prenatal Screening

Cited by 7 publications

References 39 publications

The likelihood of detecting abnormal karyotypes in fetuses with a single major anomaly or “soft” marker on ultrasonographic scanning

The likelihood of detecting abnormal karyotypes in fetuses with a single major anomaly or “soft” marker on ultrasonographic scanning

Non-Invasive Prenatal Testing in Germany

Fetal Surgery

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