Case Report
Prenatal Diagnosis of Bilateral Ectrodactyly and Radial Agenesis Associated with Trisomy 10 Mosaicism
Table 1
Clinical and cytogenetic findings in prenatal diagnosis of trisomy 10.
| | Farrell et al. (1994) [2] |
Schwrzler et al. (1999) [3] | Knoblauch et al. (1999) [4] | Brizot et al. (2001) [5] | Present case |
| Maternal age | 32 | 32 | 36 | 18 | 31 | Gender | F | M | M | M | M | Gestational age of diagnosis (weeks) | 15 | 12 | 13 | 12 | 10 | Increased nuchal translucency | + | 4.7 mm | | 5.4 mm | 2.7 mm | Hygroma colli | | | + | | | IUGR | + | | + | + | | Generalized oedema | | | + | + | | Facial dysmorphism | + | + | + | + | | Prominent forehead | | + | + | | | Low set ears | + | + | + | + | | Micrognathia/retrognathia | + | + | + | + | | Cleft lip/palate | + | + | − | + | | Limbs defects | + | + | + | + | + | Radial agenesis | | | | | Bilateral | Deformity of hands/fingers | Duplicated right thumb | Left hypoplastic clenched V finger | |
Hypoplastic 3rd finger | Bilateral hand ectrodactyly | Deformity of feet/toes |
Right 2/3 syndactyly of toes Hypoplastic left toes | Bilateral talipes | Proximally placed left first toe |
Syndactyly 2/3/4 right toes Agenesis left toes Rockerbottom feet | |
Bilateral talipes Rockerbottom feet | | |
Bilateral talipes | | Cardiac malformations | | Atresia of tricuspid valve Hypoplastic right ventricule ASD | − | DORV VSD | | Renal agenesis | Right kidney | Right kidney | − | Left kidney | − | Other |
Right lung agenesis | Diaphragmatic hernia | Liver agenesis | Microcephaly Corpus callosum agenesis Hypoplastic penis Imperforate anus | |
Intestinal malrotation | | | | | Cytogenetic analysis | | | | | | Tissues/% trisomic cells | Amniocytes/100% Fetal Skin/100% | CVS/100% | CVS/95% Fetal skin/38% | CVS/100% Fetal blood/100% | Amniocytes/80% | Outcome | | | | | | Pregnancy termination | + | 13 + 3 weeks | 15 weeks | | 11 + 3 weeks (fetal reduction) | Stillborn | | | | 35 + 4 weeks | |
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(+) Present; (−) absent. ASD: atrial septal defect; DORV: double outlet right ventricule; IUGR: intrauterine growth retardation; VSD: ventricular septal defect.
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