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Diagnostics (Basel, Switzerland) Nov 2023Klippel-Trenaunay syndrome (KTS) is a very rare vascular malformation syndrome also referred to as a capillary-lymphatic-venous malformation with unknown aetiology. The...
Klippel-Trenaunay syndrome (KTS) is a very rare vascular malformation syndrome also referred to as a capillary-lymphatic-venous malformation with unknown aetiology. The aim of our paper is to highlight interesting images, regarding a rare case of foetal Klippel-Trenaunay syndrome diagnosed prenatally in our department and confirmed postnatally with a favourable evolution during the gestation and neonatal periods. This case was diagnosed at 26 weeks gestation and characterised through ultrasound by the presence of superficial multiple cystic structures of different sizes spreading over the left leg with hemihypertrophy and reduced mobility. The cystic lesions were spreading to the left buttock and the pelvic area. The right leg and upper limbs had normal appearance with good mobility. There were no signs of hyperdynamic circulation or foetal anaemia, but mild polyhydramnios was associated. The ultrasound findings were confirmed postnatally, the left leg presented multiple cystic lesions and port wine stains, and there was hypertrophy and fixed position, with favourable evolution at 6 months of life, when the size of the lesions began to decrease and the mobility of the leg improved.
PubMed: 37998536
DOI: 10.3390/diagnostics13223400 -
Journal of Pediatric Surgery Nov 2023Prenatal diagnosis of congenital malformations is considered favorable. Esophageal atresia (EA) is prenatally detected in 10-40% of patients. The aims of our study were...
BACKGROUND
Prenatal diagnosis of congenital malformations is considered favorable. Esophageal atresia (EA) is prenatally detected in 10-40% of patients. The aims of our study were to assess factors influencing the prenatal detection rate and to study the outcome in EA patients with and without prenatal diagnosis.
METHOD
We included 136 patients in two time periods, group 1 (1996-2002, n = 68) and group 2 (2014-2020, n = 68). We registered clinical variables; prenatal signs, perinatal and postnatal outcome from the electronic patient record.
RESULTS
Twenty-five patients (18%) had a prenatal diagnosis of EA, significantly more during 2014-2020 (28%), than during 1996-2002 (9%). Patients with EA type A or B and with associated anomalies had increased likelihood of prenatal diagnosis, odds ratio (OR) 9.00 (1.99-40.69) and 3.53 (1.24-10.06), respectively. Among the 25 patients with prenatal diagnosis all had polyhydramnios and 16 had small/absent stomach. Prenatally diagnosed patients arrived significantly earlier at the surgical unit (median 2 h (2 h-1 days) vs 21 h (2 h-1275 days)), had more delayed primary anastomosis (OR 8.80 (2.68-28.92)) and anastomotic stricture (OR 3.11 (1.20-8.04)), longer length of stay (median 62 days (11-212 days) vs 20 days (2-270 days)) and longer time on ventilator (median 5 days (1-25 days) vs 1.5 days (0.5-33 days)) compared to patients without prenatal diagnosis. In multivariate analysis prenatal diagnosis predicts length of stay.
CONCLUSION
Prenatally diagnosed EA patients have more; type A and B malformations, associated anomalies and neonatal morbidity. Consequences of the assumed benefits of prenatal diagnosis; opportunity of early arrival to surgical care and prenatal counselling, must be further studied.
PubMed: 37407414
DOI: 10.1016/j.jpedsurg.2023.05.015