Table 1.
Summary of case reports of prenatally diagnosed agnathia.
| Author, year | Age (year) | Diagnostic approach | GA at initial diagnosis (week) | AFI | Karyotype | Major associated anomaly | GA at delivery (week) | Intervention after birth | Outcome | Survival period (day) |
|---|---|---|---|---|---|---|---|---|---|---|
| Scholl Jr., 1977 [15] | 27 | Radiograph ∗1 | 33 | NA | Not performed | None | NA | / | NND | 0 |
| Dao et al., 1988 [16] | 17 | Ultrasound (2D) | 32 | NA | 46, XY | None | NA | None | NND | 0 |
| Persutte et al., 1990 [17] | 24 | Ultrasound (2D) | 20 | NA | 46, XX | MCA ∗2 | 21 | / | IUFD | / |
| Brown and Marsh, 1990 [18] | 23 | Ultrasound (2D) | 36 | NA | 46, XY | MCA ∗3 | 39 | / | NND | 5 |
| Rolland et al., 1991 [5] | 27 | Ultrasound (2D) | 23 | Normal | 46, XX | Polydactyly, holoprosencephaly | 25 | / | IUFD | / |
| Lin et al., 1998 [19] | 30 | Ultrasound (2D, 3D) | 24 | 28.4 | 46, XX | None | 24 | / | TOP | / |
| Rahmani et al., 1998 [20] | 33 | Ultrasound (2D) | 19 | Normal | 46, XY | None | NA | / | TOP | / |
| Ibba et al., 2000 [6] | 32 | Ultrasound (2D) | 32 | NA | 46, XY | Hypoplastic thymus | 32 | None | NND | 0 |
| Ebina et al., 2001 [7] | 36 | Ultrasound (2D)/MRI/CT | 22 + 2 | 19.5 | 46, XX | Holoprosencephaly, hemivertebrae, adhesion of the ribs | 26 + 1 | / | TOP | / |
| Yang et al., 2003 [8] | 30 | Ultrasound (2D) | 31 + 2 | 45 | 46, XY | Hypospadia, cryptorchidism, subependymal cyst | 32 + 1 | Tracheostomy | NND | 14 |
| Chen et al., 2003 [9] | 30 | Ultrasound (2D)/MRI | 29 | 45 | 46, XX | None | 29 | None | NND | 0 |
| Falcon et al., 2004 [10] | 18 | Ultrasound (2D) | 18 | Normal | 46, XY | Tetraamelia, CDH, anal imperforation | NA | / | TOP | / |
| Umekawa et al., 2007 [11] | 34 | Ultrasound (3D)/MRI | 26 | 47 | 46, XY | None | 33 + 5 | Tracheotomy (EXIT) | NND | 3 |
| Rajan et al., 2007 [21] | 27 | Ultrasound (2D, 3D) | 32 | 54 | 46, XX | None | 37 | Tracheostomy | NND | 0 |
| Ducarme et al., 2007 [22] | 35 | Ultrasound (2D, 3D) | 16 | NA | 46, XX | None | 28 | / | TOP | / |
| Chen et al., 2007 [23] | 41 | Ultrasound (2D), MRI | 12 | NA | 46, XY | None | 16 | / | TOP | / |
| Tantbirojn et al., 2008 [24] | 37 | Ultrasound (2D, 3D) | 26 | Normal | 46, XY | None | 23 | / | TOP | / |
| Huissoudc et al., 2008 [25] | 37 | Ultrasound (2D, 3D) | 16 | Normal | 46, XY | None | 17 | / | TOP | / |
| Chaoui et al., 2011 [12] | NA | Ultrasound (2D, 3D) | Second trimester | Slightly increased | 46, XY | Absence of the left kidney | NA | / | TOP | / |
| Donnelly et al., 2012 [26] | NA | Ultrasound (2D, 3D) | 33 | 49 | 46, XX | None | 33 | Tracheostomy (failed) | NND | 0 |
| Akiyama et al., 2013 [13] | 40 | Ultrasound (2D, 3D), MRI | 25 | 26 | 46, XY | None | 38 | None | NND | 0 |
| Patat et al., 2013 [14] | 36 | Ultrasound (2D) | 28 | Increased | 46, XY | None | 30 | None | NND | 0 |
∗1: radiograph taken after the injection of renografin.
∗2: anterior cervical cyst (hypopharynx), cyclopia, polysplenia, bilateral left lung, duodenal atresia, aplasia of the pituitary gland, adrenal hypoplasia, hydranencephaly, holoprosencephalic brain, absence of the internal carotid artery.
∗3: brachydactyly, syndactyly, micropenis with hypospadias and cryptorchidism, Dandy-Walker malformation, tetralogy of fallot, agenesis of the corpus callosum.