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Introduction. Microdeletions are chromosomal abnormalities that affect less than 5 Mb, which may be of interest to one or more adjacent genes. The phenotypic impact depends on the location of the microdeletion, ranging from minimal changes to severe physical and intellectual impairment in well-known genetic syndromes. The current noninvasive tests allow their screening, but ultrasound evaluation remains an important part of diagnosis. Methodology. The database of the Genetics Laboratory of the "Cuza Vodă" Clinical Hospital of Obstetrics and Gynecology Iași was studied for a period of 10 years (2010-2020) and in the cases diagnosed prenatally and postnatally with microdeletions, the described ultrasound signs were analyzed. Results. In the cases identified with microdeletions, the systematization of the existing ultrasound data was made, focusing on the landmarks characteristic of each syndrome. The ultrasound examination was the one that directed, in most cases, the invasive investigation, but in the last years the noninvasive screening tests have been the ones that initiated the diagnostic exploration. Conclusions. Microdeletions, although rare, are syndromes with important impact on the physical and mental development of the child, determining complex clinical and behavioral phenotypes, hence the importance of their diagnosis. The association of noninvasive screening with rigorous ultrasound examination can lead to the diagnostic investigation and the decisions that will follow with its confirmation. [ABSTRACT FROM AUTHOR]

Introduction. Myelomeningocele, commonly known as open spina bifida, is a devastating congenital malformation of the central nervous system. The neural tube defects are of two types: open and closed. The defect of the open neural tube means that the defect is not covered at all or only covered by a membrane. The open neural tube defects cover 80% of all neural tube defects. They are characterized by the failure of the neural tube to close the sacral lumbar region during the embryonic development, leading to herniation of the meninges and spinal cord through a vertebral defect. Methodology. A 20-year-old patient, GI, P0, with 23 weeks of pregnancy, with non-directly observed therapy, is directed from a municipal hospital to the Maternal-Foetal Medicine Department of the “Cuza Vodă” Maternity Iași, after the ultrasound suspicion of a foetal lumbar-sacral defect. The foetal morphological evaluation reveals a foetus with open lumbarsacral spina bifida, borderline ventriculomegaly, banana sign. After counselling the patient, she decides for termination of pregnancy and medicine abortion is induced. Results. The patient aborts a product of unviable conception, male, weighing approximately 500 g, with obvious spinal defect, located at the lumbosacral level. Macroscopically, we observe the interruption of the tegument continuity, with the direct visualization of the spinal defect, not covered. The pathological anatomy confirms the diagnosis of myelomeningocele. Conclusions. The diagnosis is usually obvious due to the visible lesion of the spine and the associated indirect ultrasound signs from the first trimester. The ultrasound characteristics of the myelomeningocele depend on the location, the presence of hydrocephalus and other associated abnormalities of the central nervous system. Although the prenatal ultrasound evaluation of the first trimester of pregnancy by a specialist in maternal and foetal medicine is considered gold standard in the case of ultrasound suspicion of spina bifida, the addressability to the specialist doctor at the beginning of pregnancy in our country is low. [ABSTRACT FROM AUTHOR]

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Copyright of Ginecologia.ro is the property of MEDICHUB MEDIA, S.R.L. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)