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 |