Acheiria diagnosed at 16th week of gestation

Aim

Absence of an extremity or a segment of an extremity is referred to as “limb deficiency” or “congenital amputation”. The prevalence of limb reduction deformities is about 1 per 20,000 births. In about 50% of cases, there are multiple reduction deficiencies, and in 25% of these, there are additional anomalies of the body structures. Isolated amputation of an extremity can be due to amniotic band syndrome, exposure to a teratogen or a vascular accident. Acheiria related with misoprostol use in pregnancy for gastric complaints has been defined in the literature. There is also an association between chorion villous sampling before 10 weeks of gestation and transverse limb defects. Isolated limb reduction deformities, such as amelia (complete absence of extremities), acheiria (absence of the hand), phocomelia (seal limb) or aplasia–hypoplasia of the radius or ulna often forms the part of a genetic syndrome (such as Holt–Oram syndrome, Fanconi pancytopenia, thrombocytopenia with absent radii syndrome). Here, we report a case with right acheria diagnosed at 16th week of gestation.

Olgu

A 26-years-old G1P0A0 pregnant woman presented to our clinic for pregnancy follow-up. There was no teratogen exposure in her history. At 16th week of gestation, the right hand could not be visualized during ultrasonographic examination. Radial and ulnar structures seemed to be normal. The detailed scan of the fetus revealed normal anatomy except the right hand. There were no amniotic bands in the cavity. Amniocentesis was performed, and the karyotype was normal. She was non-problematic at 38 weeks’ gestation at the time of writing of this report.

Sonuç

Acheria is a rare anomaly, but should be kept in mind. The absence of a part of the extremity can easily be overlooked in the routine ultrasound examination. The visualization of whole extremities even in low-risk pregnancies should be considered. 

Anahtar Kelimeler

Acheria, extremity abnormality, transverse limb deficiency

-