Table 8 Clinical information of 5 cases missed by NIPT.
Cases | Case 1 | Case 2 | Case 3 | Case 4 | Case 5 | |
|---|---|---|---|---|---|---|
Fetus 1 | Fetus 2 | |||||
Age (years) | 24 | 32 | 27 | 30 | 21 | |
Clinical diagnosis | Not specified | Not specified | 18-trisomal critical risk | Twin pregnancy, IVF-ET | 18-trisomal critical risk | |
Gestational age (weeks) | 15+6 | 18+2 | 18+4 | 22+ | 12+3 | |
Serological screening | Low risk | – | 18-trisomal critical risk | Low risk | 18-trisomal critical risk | |
Weight (kg) | 55 | 70 | 57 | 50.5 | 70 | |
NT value (mm) | 1.1 | 2.1 | 1.6 | NA | NA | 1.4 |
Ultrasound examination results | Suspicious abnormal morphology of fetal external genitalia | NT 2.1 | Normal | Normal | Both feet pronate | Normal |
Gestational age at birth (weeks) | 37+6 | 32+1 | 39+0 | 37+6 | 37+6 | 38+3 |
Birth weight (g) | 2600 | 1950 | 3260 | 2650 | 2050 | 2140 |
Pregnancy outcome | 47, XYY, dup(1) (q21.1q21.2) (2.72Mb) | 45, X [93]/46, XY [7] | del (9) (p24.3p22.3) (15.18Mb) | Normal | 47, XXY | dup (1) (q41q44) (29.16Mb), del (13) (q33.3q34) (5.70Mb) |
Clinical phenotype | No clinical symptoms | Respiratory distress | 16-month-old still can’t walk independently, can’t speak, developmental delay | Normal | Hypospadias | Developmental retardation, hydrocephalus and congenital heart disease |
