Objectives:The objective of the study was to further validate an indigenously developed a step-by-step approach for the diagnosis of skeletal dysplasia in light of the limited resources available. Methods: An algorithmic approach was used. The assessment for lethality was the first step, followed by the evaluation for fractures. In cases without evidence of fracture, severe constriction of thorax or associated polydactyly were searched for. In cases without severe thoracic constriction, the severity of micromelia was evaluated. After delivery, fetal examination was done to ascertain the etiology. Results: During the 10-year period, 94 cases with shortened long bones were fully evaluated. Lethality was suspected in 66 cases. Fracture and beading were present in 22 cases, and severe thoracic constriction with polydactyly was observed in 14 cases. Mild micromelia was seen in 43 cases and severe micromelia in 15 cases. Among lethal skeletal dysplasias, thanatophoric dysplasia was most common. Among non-lethal skeletal dysplasias, achondroplasia was seen in 19 cases. Conclusions: Lethality of skeletal dysplasia could be predicted on prenatal ultrasound with 100% accuracy. The step-by-step approach was helpful to characterise skeletal dysplasias.
Objectives: To analyse the cases of fetuses with persistent left superior vena cava (PLSVC) at our centre, evaluating prenatal, perinatal and postnatal data. Methods: This is retrospective observational study carried at a tertiary hospital which included all cases of with PLSVC diagnosed or referred to our Prenatal Diagnosis Unit from 2015 to 2021. Results: A total of 46 fetuses diagnosed with PLSVC were found. However, due to loss of follow-up, we performed the analysis at 37 patients. The diagnosis of PLSVC was established in 11% of patients at < 18 weeks, 81% at 18-23 weeks and in 8% at > 23 weeks. Isolated persistent left superior vena cava was in 32% and in 68% of the patients presented PLSVC together with other ultrasound findings, being the most frequent pathologies coarctation of the aorta, pathologies of cardiac axis and heterotaxy syndrome or central nervous system abnormalities. In the 13% we found the absence of the right superior vena cava. Invasive testing was performed on 12 patients, all of which 50% were abnormal. We did not do invasive test in isolated PLSVC.19% of the patients decided to carry out termination of pregnancy. 1 antepartum fetal death occurred at week 25 in a patient with important ultrasound malformations who decided to continue with the pregnancy. All the newborn (NB) had an Apgar score > 7 at 5 minutes.80% of the children were asymptomatic and was being monitoring by a cardiologist. There were 2 late neonatal deaths, one due to complications after cardiac surgery in a newborn with complex heart disease and another in a case of Vacterl association in a patient whose pregnancy was not controlled. 4 NBs received surgery, 3 of cardiac pathology with adequate evolution who had a prenatal diagnosis of heart disease and 1 of anal atresia not diagnosed prenatally. Conclusions: PLSVC is the most common form of anomalous venous drainage. Is usually an isolated finding but its incidence in congenital heart disease is 10 times higher than in the general population. The diagnosis must be followed by a rigorous review of the cardiac anatomy.VP21.12 Clinical course and perinatal outcomes of prenatally diagnosed complete atrioventricular block
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