The first registered type 0 spinal muscular atrophy patient in Latvia: call for change in prenatal diagnostic procedures, case report

Abstract Background currently, there are only a few published case reports detailing an increased nuchal translucency (NT) measurement in association with a diagnosis of SMA in the foetus. However, an increased NT measurement is a clinically relevant sign as it can be related to genetic syndromes, foetal malformations, disruptions and dysplasias. This case report highlights the prenatal signs and symptoms in relation to type 0 SMA. Case presentation: this case report presents the first registered patient in Latvia with type 0 spinal muscular atrophy (SMA). The index case was a Caucasian male infant from non-consanguineous parents. During the first-trimester ultrasonography of the unborn patient, an increased thickness of the nuchal fold was detected. The mother reported decreased foetal movements during the pregnancy. After the boy was born, his general condition was extremely severe. The clinical signs indicated a suspected neuromuscular disorder. A precise diagnosis – type 0 SMA – was determined 7 days after birth through a newborn pilot-screening for SMA. The condition of the infant deteriorated. He had severe respiratory distress followed by multiple events leading to death. Conclusions since there are no treatment options for infants with type 0 SMA at present, it is vital to be able to detect this disease prenatally in order to provide the best possible care for the patient and parents. Employment of extensive panel genetic testing using next-generation sequencing would be beneficial for prenatal diagnosis of type 0 SMA cases. Moreover, sequencing of foetal exomes covering single nucleotide variations and copy number variations (also SMN1) offers a broader diagnostic capacity for pregnancies with unexpected foetal anomalies, thus improving both diagnostic timing and counselling for parents. Early recognition of the disease would give parents time to come to terms with the situation, as well as provide the option of pregnancy termination.