17th World Congress in Fetal Medicine

A case of unilateral anophthalmia Gkorila G, Dragoumis G, Tsagoulis M, Rizos O, Lialios G University Hospital of Thessaly, Larisa, Greece

Objective Anophthalmia is characterized by the absence of sockets and can be diagnosed by careful examination of the anatomy of the eye and the absence of lenses with transverse incision facial at the height of the eye sockets at 22 weeks where present two Opthalmic kogchoi within which are the lenses. It is the most severe form of .

Methods This is a case report.

Results A 20 years-old woman, G1P0 with unremarkable obstetrical and medical history with natural conception came to our outpatient clinic. The laboratory tests carried out during the first trimester of and ultrasound were normal. Nuchal translucency was 1, 80mm and the combined risk for trisomy 21, 13, 18, was 1/4014, 1/6751 and < 1/20000 respectively. At the second trimester ultrasound, a male fetus was identified with right anophthalmia, the rest of the scan revealing no other apparent anatomical abnormalities. A non-invasive karyotype test (NIPT) of the fetus and an MRI were proposed to the parents. The parents only wished to perform the MRI, refused further testing and decided to terminate the pregnancy. The MRI showed right microphthalmia and an enlargement of the left eye bulbus oculi. Specifically, the larger left bulbus oculi had a diameter of 11. 4mm and a small hypoplastic right bulbus oculi with a diameter of 4. 6mm was recognized. Also, there was an asymmetrical development of the orbits with a right hypoplastic right . Development of the appeared to be within normal limits for a 22-week pregnancy.

Conclusion Anophthalmia is a rare condition with a high probability of chromosomal abnormality. It may be associated with Goldbar syndrome, COFS, Walker-Warburg, Merkel -Gruber syndrome, Frasier's syndrome, gall-eye syndrome, Hydrolethalus, middle facial split, Neu-Laxova syndrome, Fryns syndrome, Proteus syndrome, and CHARGE. It can be combined with Punctata chondrodysplasia, Fanconi anemia and Roberts syndrome. Chromosomal aberrations that are manifested are trilopeia, trisomy 9, 13 and 18. Teratogens leading to microphthalmia / anophthalmia are ethyl alcohol, phenylephrine and TORCH. Examination of the karyotype of the parents with the help of ultrasound is very important at all embryonic stages in order to detect congenital malformations that can alter the obstetric outcome or to indicate special obstetric intervention. In addition, the related deformities of the person may be the only anomalies of a disease and consequently lead to diagnosis of different syndromes and chromosomal abnormalities. An abnormal audit of the specific characteristics of the syndrome, as well as karyotype testing, should be performed in an appendix. It may appear in the same family. Microparticle may occur sporadically although it is inherited as an autosomal dominant or residual or X-linked nature. If it is due to a chromosomal anomaly the prognosis is severe. It can be found individually and one-sided which is associated with a good prognosis. Generally, the prognosis is dependent on concomitant abnormalities.