Prenatal Diagnosis of Isolated Agnathia-Otocephaly: A Case Report and Review of the Literature

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.