Case Report
Exome-First Approach in Fetal Akinesia Reveals Chromosome 1p36 Deletion Syndrome
Table 1
Prenatal findings of the present case.
| | GA (Weeks + days) | 30 + 5 | 32 + 5 | 33 + 3 | 34 + 6 | 35 + 5 | 36 + 3 |
| | EFBW (g) (SD) | 1353 (−1.2) | 1545 (−1.75) | 1566 (−2.0) | 1694 (−2.27) | 1881 (−2.0) | 1865 (−2.4) | | AFI | 9.7 | 24.4 | 30.47 | 48.0 | 33.2 | 39.8 | | Stomach | + | absent | absent | absent | absent | absent | | Fetal movements | + | absent | absent | absent | absent | absent | | Fetal presentation | Vertex | Breech | Breech | Breech | Breech | Breech | | Ventriculomegaly (mm) | 4.4 | 8.2 | 10 | 14.2 | 15 | N/A | | Others | | CPCs | | PE | PE | PE |
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GA, gestational age; EFBW, estimated fetal body weight; AFI, amniotic fluid index; CPCs, choroid plexus cysts; PE, pleural effusion; SD, standard deviation; N/A, not available.
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