Genetic Analysis in Pregnancy with Fetal Pathologic Ultrasound Findings

Şimşek, Selda; Türkyılmaz, Ayberk; Oral, Derviş; Yalinkaya, Ahmet; Tekes, Selahaddin; Akbas, Halit; Budak, Turgay

doi:10.5504/bbeq.2013.0018

Cited by 1 publication

(1 citation statement)

References 17 publications

(27 reference statements)

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“…Single anomaly detection triggers the invasive diagnosis dilemma, posing a potential 1% miscarriage risk (Cicero et al , 2003). Simsek et al .‘s study found 17.1% pathological karyotypes, mostly aneuploidy, in single anomalies or “soft” markers (Simsek et al , 2013). Our study observed a 6.9% prevalence of chromosomal issues, with 80.6% numerical abnormalities, notably 50% trisomy 21.…”

Section: Discussionmentioning

confidence: 96%

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: Discussionmentioning

confidence: 96%