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. 2025 Nov 6;25:1168. doi: 10.1186/s12884-025-08238-z

Table 1.

Prevalence rates of chromosomal abnormalities in different soft marker groups

Ultrasound category Ultrasound-determined gestational age Number of fetuses Chromosomal abnormalities (n (%)) Aneuploidies CNVs Translocations
Increased NT First-trimester 294 27(9.18) 20 4 3
Absent nasal bone First-trimester 70 9(12.86) 8 1 0
Single umbilical artery First-trimester 12 0(0.00) 0 0 0
Choroid plexus cyst Second-trimester 48 3(6.25) 1 2 0
Short femur Second-trimester 26 1(3.85) 1 0 0
Mild ventriculomegaly Second-trimester 25 0(0.00) 0 0 0
Tricuspid regurgitation Second-trimester 19 2(10.53) 0 2 0
Aberrant right subclavian artery Second-trimester 19 1(5.26) 0 0 1
Echogenic bowel Second-trimester 12 0(0.00) 0 0 0
Echogenic intracardiac focus Second-trimester 5 3(60.00) 3 0 0
Other - 15 0(0.00) 0 0 0
Multiple Soft Markers - 77 25(32.47) 24 0 1
Total - 622 71(11.41) 57 9 5