Prenatal Ultrasound Diagnosis of Klippel-Trenaunay Syndrome.

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.

Ultrasound Appearance of Fetal Posterior Fossa and a Case Report of Prenatal Diagnosis of Dandy-Walker Malformation.

Prenatal sonographic assessment of the posterior fossa in the mid-sagittal plane at 11-14 weeks' gestation has been highlighted as an essential diagnostic step by the current literature. This approach is used for the early detection of open spina bifida during the first trimester by analyzing the three spaces of the posterior fossa: brain stem, the fourth ventricle and cisterna magna. Abnormal size of fetal posterior fossa spaces is an important sign in the diagnosis of fetuses with central nervous system malformation and needs to be submitted for differential diagnosis when any alterations are observed. Among them, Dandy-Walker malformation is one of the major causes of congenital hydrocephalus, being a rare condition, with poor-prognosis, manifested by enlarged posterior fossa. On the basis of available evidence, the assessment of the fetal posterior cranial fossa is feasible from 11 to 14 weeks gestational age and it is believed that abnormal appearance of the posterior fossa at this stage of pregnancy could improve early detection of Dandy-Walker malformation by prompting an early second trimester ultrasound evaluation.

A Rare Case of Allantoic Cyst with Patent Urachus in Fetus with a Microdeletion in 1q21.1q21.2 Region.

An allantoic cyst is a rare malformation with a frequency of 3 in 1,000,000 that may be seen antenatally by ultrasound assessment when the connection between the cloaca (future bladder) and the allantois fails to regress. A patent urachus that presents as a cyst (allantoic) is usually considered not to be associated with chromosomal abnormalities, but if it is not repaired after birth this leads to complications such as urinary tract infections and stone formation. We present a case of a fetus diagnosed with allantoic cyst at the first trimester ultrasound assessment at 12 weeks gestation. The follow up scans showed a decrease in size of the allantoic cyst with no other obvious major defects and, when invasive testing (amniocentesis with microarray analysis) was performed, a rare microdeletion, 1q21.1q21.2 was identified (1.82 Mb deletion).

Management strategies and clinical follow-up of pregnant women with intracranial meningioma.

Meningiomas are common primary tumors of the central nervous system. The incidence at the age of fertility is low, although there are some hormonal mechanisms involved. Growth in size was observed during the luteal phase of the menstrual cycle, which could lead to developing new symptoms during pregnancy or worsening of the already existing ones. Visual impairment is the chief complaint, followed by headache, nausea, vomiting, and seizures. Diagnosis is based on neurological examination, ophthalmoscopy, imaging techniques like gadolinium-enhanced magnetic resonance imaging (MRI), and contrast-enhanced computed tomography (CT) scans, bearing in mind the patient's irradiation and prejudice on the fetus together with the histopathological examination. The objective of the review is to determine the influence of meningioma on pregnancy and vice-versa and provide a strategy of follow-up for maternal-fetal specialists and not only. We performed a systematic review by searching relevant information in PubMed and Wiley databases using keywords as meningioma, pregnancy, progesterone receptors. The results showed that besides a similar incidence of meningioma in pregnant and non-pregnant women, symptoms might flare during pregnancy due to water retention, engorgement of vessels, and the presence of sex hormone receptors on tumor cells. Meningioma may impact the route of pregnancy with adverse effects on the fetus. Thus, fetal monitoring by biophysical profile and cardiotocography (CTG) is needed. The preferred treatment option is surgery, but gestational age and the woman's status must be taken into consideration.

Prognosis and Management in Subsequent Rh Alloimmunized Pregnancies.

Background: RhD alloimmunization remains a severe problem worldwide, but its management has been revolutionized by two important discoveries: the possibility to establish fetal Rh genotype non-invasively by using a maternal blood sample, and using of Doppler velocimetry to monitor early signs of affected fetuses. Materials and methods: We performed a literature review by searching PubMed for relevant information about diagnosis, prognosis, and management of secondary affected Rh alloimmunized pregnancies. Results:The risk to develop fetal anemia and hydrops seems to increase with increasing concentrations of Rh antibodies, and studies show it is higher for subsequent pregnancies. Individuals presenting the DEL phenotype with the types 1, 2 or 3 can be considered RhD positive and anti-D immune globulin is not indicated. Discussions: Medical algorithm involves previous pregnancy history together with serum parameters. Follow-up in a department of maternal fetal medicine is desired and encouraged in these cases. Depending on the severity and woman's previous pregnancy history, especially condition prior to 24 weeks of gestation, several therapies such as plasmaphereses, intravenous immune globulin or intrauterine transfusions can be conducted. Intrauterine transfusions have a better prognosis when performed earlier and on fetuses without hydrops. Conclusion:Although the incidence of hemolytic disease of the fetus and newborn has decreased and is no longer a major cause of perinatal mortality, vigilance is still required. There is a strong argument for reunite the management of these cases in dedicated maternal fetal medicine centers that perform invasive procedures in order to improve knowledge, gain skills and enhance clinical management.

Benefits and Risks of IgG Transplacental Transfer.

Maternal passage of immunoglobulin G (IgG) is an important passive mechanism for protecting the infant while the neonatal immune system is still immature and ineffective. IgG is the only antibody class capable of crossing the histological layers of the placenta by attaching to the neonatal Fc receptor expressed at the level of syncytiotrophoblasts, and it offers protection against neonatal infectious pathogens. In pregnant women with autoimmune or alloimmune disorders, or in those requiring certain types of biological therapy, transplacental passage of abnormal antibodies may cause fetal or neonatal harm. In this review, we will discuss the physiological mechanisms and benefits of transplacental transfer of maternal antibodies as well as pathological maternal situations where this system is hijacked, potentially leading to adverse neonatal outcomes.