ABSTRACT
OBJECTIVE: Prenatal diagnoses of microdeletion syndromes without ultrasound findings in the first and second trimester are always difficult. The objective of this study is to report the prenatal ultrasound findings in four foetuses diagnosed with 17q21.31 microdeletions (Koolen-de Vries syndrome) using chromosomal microarrays (CMA). PATIENTS AND METHODS: We present four foetuses with 17q21.31 microdeletion. All showed CNS anomalies in the third trimester, three had ventriculomegaly, and one hypogenesis of corpus callosum at 31 weeks of pregnancy. RESULTS: Array-SNPs and CGH-array were performed on uncultured amniocytes and peripheral blood revealing a 17q21.31 microdeletion. CONCLUSIONS: Prenatal CNS anomalies (mainly ventriculomegaly) at third trimester, in spite of isolate, should be considered a prenatal ultrasound marker of this syndrome. This kind of malformations raise the possibility of an underlying genetic conditions including 17q21.31 microdeletion; thus, CMA should be taken into consideration when offering prenatal genetic counselling.
Subject(s)
Abnormalities, Multiple/diagnostic imaging , Cerebral Ventricles/diagnostic imaging , Corpus Callosum/diagnostic imaging , Genetic Testing , Intellectual Disability/diagnostic imaging , Ultrasonography, Prenatal , Abnormalities, Multiple/genetics , Abnormalities, Multiple/pathology , Adult , Cerebral Ventricles/embryology , Chromosome Deletion , Chromosomes, Human, Pair 17/genetics , Corpus Callosum/embryology , Female , Humans , Infant, Newborn , Intellectual Disability/genetics , Intellectual Disability/pathology , Male , PregnancyABSTRACT
Presentamos 2 casos de gestantes en el segundo trimestre de embarazo que acudieron a nuestro centro por dolor e incapacidad para orinar, siendo diagnosticadas gracias a la exploración clínica y a la ecografía de incarceración uterina. Ambas fueron manejadas de forma conservadora, una mediante reducción manual con sedación y la otra mediante sondaje vesical y analgesia, lo que facilitó la resolución espontánea del caso. La incarceración uterina es una patología que tiene lugar con mayor frecuencia en el segundo trimestre de la gestación. Ocurre en mujeres gestantes, en la mayoría de las ocasiones, con un útero en retroversión. El aumento del tamaño del útero debido a la gestación produce un atrapamiento uterino entre el promontorio del sacro y la sínfisis del pubis. La clínica habitual es dolor e incapacidad para orinar. El diagnóstico debe estar basado en la exploración clínica y en la ecografía. El tratamiento habitual se basa en la reducción manual en quirófano que suele tener éxito en la mayoría de las ocasiones (AU)
We report the cases of 2 women in the second trimester of pregnancy who attended our center with pain and difficulty voiding. Based on physical and ultrasound examination, both women were diagnosed with uterine incarceration. Management was conservative in both patients, through manual reduction under sedation in one and by bladder catheterization and analgesia in the other, facilitating spontaneous resolution of the uterine incarceration. Uterine incarceration is a rare entity that occurs most frequently in the second trimester. It affects pregnant women, usually with retroverted uterus. The enlarged uterus due to pregnancy induces uterine entrapment in the pelvis between the sacral promontory and pubic symphysis. The most common symptoms are pain and progressive difficulty in voiding. The diagnosis of incarcerated uterus is based on physical and ultrasound examination. The usual treatment is based on manual reduction, which is usually successful (AU)
