Case Report
Trisomy 9 Mosaicism Diagnosed In Utero
Table 2
Characteristics and outcomes of reported cases of prenatal trisomy 9 mosaicism.
| Case | Reference | Maternal age (years) | Time of exam (weeks) | Trigger of detection | FGR | Other fetal findings | Outcomes |
| 1 | Bureau et al. [8] | 24 | 36 | CNS anomaly | − | Dandy-Walker variant | Liveborn, death at 2 weeks | 2 | Saura et al. [3] | 28 | 30 | PDA, polyhydramnios | − | PDA | Liveborn at 35 weeks | 3 | | 29 | 33 | FGR | + | — | Alive at 21 months; severe developmental delay | 4 | Greenberg et al. [9] | 39 | 16 | AAMA | − | — | Liveborn at term | 5 | Hsu et al. [10] | 48 | NA | AAMA | − | — | Normal development at 3 years, 8 months | 6 | | 42 | NA | AAMA | − | — | Liveborn at 23 weeks; death at 4 days | 7 | | 38 | NA | AAMA | + | Multiple anomalies (no details) | Liveborn at term | 8 | Sherer et al. [11] | 20 | 31 | FGR | Mild | Right hydronephrosis | liveborn, death at 6 weeks | 9 | Smoleniec et al. [12] | 28 | 34 | Severe FGR | Severe | — | IUFD at 34 weeks | 10 | Case | 35 | 29 | Severe FGR | Severe | — | IUFD at 33 weeks | 11 | Case in [5] | 36 | 31 | CDH | Mild | Left-sided congenital diaphragmatic hernia | Alive at 4 years; severe developmental delay | 12 | Case | 41 | 24 | Severe FGR | Severe | — | IUFD at 38 weeks |
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AAMA: amniocentesis with advanced maternal age; CNS: central nerve system; FGR: fetal growth restriction; IUFD: intrauterine fetal demise; PDA: patent ductus arteriosus; NA: not available.
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