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Table 1 Pregnancy details and clinical features of the patients

From: Prenatal diagnosis of rearrangements in the fetal 22q11.2 region

Patient Age G/P/A/L Gestational week T21 T18 NTD Risk NT (mm) Syndrome CNVs Size Clinical indication Outcome
P1 25 0–0–0-0 23 1/2300 1/36400 Negative 0.9 mm 22q11.2DS 3.1 Mb Fetal heart malformation, separation of left kidney collecting system Termination of pregnancy
P2 25 0–0–0-0 23 1/6824 1/100000 Negative 5.8 mm 22q11.2DS 3.1 Mb Fetal neck water cyst Termination of pregnancy
P3 30 1–0–0-1 22 1/3777 1/100000 Negative Not done 22q11.2DS 3.1 Mb Fetal ventricular septal defect slight tricuspid regurgitation Continue pregnancy
P4 30 1–0–0-1 21 1/53 1/22509 Negative 1.2 mm 22q11.2DupS 3.1 Mb BoBs result:22q11.2 region duplication A 2 years old healthy child
P5 31 0–0–0-0 22 1/20 1/25507 Negative 1.7 mm 22q11.2DupS 2.8 Mb BoBs result:22q11.2 region duplication Termination of pregnancy