Browsing by Author "Cadilhe, A"
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- Goldenhar syndrome: a rare diagnosis with possible prenatal findingsPublication . Ribeiro, B; Igreja, J; Gonçalves-Rocha, M; Cadilhe, AGoldenhar syndrome is a rare congenital disease associated with hemifacial hypoplasia as well as ear and ocular defects. Sometimes it is also associated with vertebral and other bone defects, cardiac malformations and central nervous system anomalies. Its aetiology is not yet clarified in the literature. We present a case of multiple malformations detected in the morphology ultrasound (at 22 weeks of gestation), namely absent nasal bones, micrognathia and absent left radius, among other defects. Genetic counselling, fetal brain MRI and cardiac sonography, which showed ventricular septal defect, were performed. 11 syndromes with poor fetal or neonatal prognosis were identified as possible diagnosis, using a genetic database and the couple asked for a medical termination of pregnancy. Postmortem examination has shown features consistent with Goldenhar syndrome.
- Single Fetal Death in Monochorionic Twin Pregnancy: Co-Twin Prognosis and Neonatal OutcomePublication . Vale-Fernandes, E; Dias, J; Gil, B; Cadilhe, AThe incidence of single fetal death in twin pregnancy varies from 0.5% - 6.8%, leaving the surviving fetus with increased morbi-mortality. The prognosis is worse in monochorionic pregnancies. In addressing these cases it should be noted referral to tertiary center with differentiated perinatal support, induction of fetal lung maturation and termination of pregnancy if there's loss of fetal well-being or possibility of maternal complications and suspected neurological sequelae in the surviving fetus. The risk of iatrogenic prematurity should always be weighed with the possible consequences arising from the fetus staying in a hostile uterine environment. The authors describe a case of a 32-year-old pregnant woman with monochorionic/diamniotic twin pregnancy diagnosed with death of one of the fetuses due to fetal growth restriction and velamentous insertion of the umbilical cord at 30 weeks of gestation. The couple opted for termination of pregnancy at 33 weeks after documentation of brain changes in the surviving fetus.
- Uterine Rupture at 18 Weeks of Pregnancy in the Context of Malformed UterusPublication . Vale-Fernandes, E; Teixeira, N; Cadilhe, A; Rocha, MJBirth defects of the female genital tract are relatively common and often asymptomatic. Despite the pregnancy outcome can be favorable, adverse obstetric outcomes are described in women with uterine malformations. The authors report the case of an obstetric emergency which enhances the possibility of a very adverse and rare outcome of uterine rupture in a left hemi-cavity of a bicornuate uterus away from the term, at 18 weeks of pregnancy, in a pregnant woman with history of caesarean in the right hemi-cavity and with placenta increta. A malformed uterus with a primitive type cavity has lower distensibility of the wall with the progression of the pregnancy and facilitates the development of abnormal placentation forms, increasing the risk of uterine rupture in the first and second trimesters. The knowledge of the existence of a congenital uterine anomaly in the preconceptional period is of primary importance.