Table 2 Indications and results of the nine amniocenteses
From: Early diagnosis and care is achieved but should be improved in infants with Prader-Willi syndrome
Case | Sex | Indication | Result | Postnatal genotype |
|---|---|---|---|---|
2 | F | Maternal age, clubfoot, nasal bone abnormality | Normal karyotype | Abnormal methylation profile |
6 | F | Hydramnios, IUGR | Normal karyotype, no PW deletion | UPD |
15 | F | Hydramnios, IUGR, hypomobility | Normal karyotype | Deletion |
43 | F | Hydramnios | Normal karyotype | UPD |
45 | F | Cervical hygroma | Normal karyotype | Deletion |
46 | M | IUGR, VSD, hypospadias | Normal karyotype, negative 22q11 FISH | UPD |
47 | M | Abnormal combined test | Normal karyotype | Deletion |
50 | F | Abnormal combined test | Normal karyotype | UPD |
52 | F | Hydramnios | Normal karyotype | Deletion |