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

Autor:	Petrovic B; Clinic for Gynecology and Obstetrics, University Clinical Center of Serbia., Milicevic S; Clinic for Gynecology and Obstetrics, University Clinical Center of Serbia.; Faculty of Medicine, University of Belgrade., Sljivancanin D; Clinic for Gynecology and Obstetrics, University Clinical Center of Serbia.; Faculty of Medicine, University of Belgrade., Zdelar Stojanovic L; Clinic for Gynecology and Obstetrics, University Clinical Center of Serbia., Stamenkovic J; Clinic for Gynecology and Obstetrics, University Clinical Center of Serbia.; Faculty of Medicine, University of Belgrade., Grk M; Institute of Human Genetics, Faculty of Medicine, University of Belgrade, Belgrade, Serbia., Dusanovic Pjevic M; Institute of Human Genetics, Faculty of Medicine, University of Belgrade, Belgrade, Serbia.
Jazyk:	angličtina
Zdroj:	Clinical dysmorphology [Clin Dysmorphol] 2024 Jul 01; Vol. 33 (3), pp. 137-144. Date of Electronic Publication: 2024 Feb 16.
DOI:	10.1097/MCD.0000000000000496
Abstrakt:	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. (Copyright © 2024 Wolters Kluwer Health, Inc. All rights reserved.)
Databáze:	MEDLINE
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