Pallister-Killian syndrome: Cytogenetics and molecular investigations of mosaic tetrasomy 12p in prenatal chorionic villus and in amniocytes. Strategy of prenatal diagnosis.

Objective: Pallister-Killian syndrome (PKS) is a rare, sporadic genetic disorder caused by mosaic tetrasomy of the short arm of chromosome 12 (12p). Clinically, PKS is characterized by several systemic abnormalities, such as intellectual impairment, hearing loss, epilepsy, hypotonia, craniofacial dysmorphism, pigmentary skin anomalies, epilepsy, and a variety of congenital malformations. Prenatally, PKS can be suspected in the presence of ultrasound anomalies: diaphragmatic hernia, rhizomelic micromelia, hydrops fetalis, fetal overweight, ventriculomegaly in the central nervous system, congenital heart defects, or absent visualization of the stomach.

Male Infertility during Antihypertensive Therapy: Are We Addressing Correctly The Problem?

Male fertility significantly decreased in the last 50 years, as showed in several studies reporting a reduction of sperm counts per ml in the seminal fluid. Several "acute" pharmacological treatments, as antibiotics, could cause subclinical and temporary reduction of male fertility; conversely, long-term medical treatment may severely affect male fertility, although this effect could be considered transient in most of the cases. Thus, nowadays, several long-term pharmacological treatments may represent a clinical challenge.

Full-Thickness Excision versus Shaving by Laparoscopy for Intestinal Deep Infiltrating Endometriosis: Rationale and Potential Treatment Options.

Endometriosis is defined as the presence of endometrial mucosa (glands and stroma) abnormally implanted in locations other than the uterine cavity. Deep infiltrating endometriosis (DIE) is considered the most aggressive presentation of the disease, penetrating more than 5 mm in affected tissues, and it is reported in approximately 20% of all women with endometriosis. DIE can cause a complete distortion of the pelvic anatomy and it mainly involves uterosacral ligaments, bladder, rectovaginal septum, rectum, and rectosigmoid colon.

The introduction of the absolute risk for the detection of fetal aneuploidies in the first-trimester screening.

Purpose: Maternal age is a crucial factor in fetal aneuploidy screening, resulting in an increased rate of false-positive cases in older women and false-negative cases in younger women. The absolute risk (AR) is the simplest way to eliminate the background maternal age risk, as it represents the amount of improvement of the combined risk from the maternal background risk. The aim of this work is to assess the performance of the AR in the combined first-trimester screening for aneuploidies.

Next Generation Sequencing Approach in a Prenatal Case of Cardio-Facio-Cutaneus Syndrome.

Cardiofaciocutaneous syndrome (CFCS) belongs to a group of developmental disorders due to defects in the Ras/Mitogen-Activated Protein Kinase (RAS/MAPK) signaling pathway named RASophaties. While postnatal presentation of these disorders is well known, the prenatal and neonatal characteristics are less recognized. Noonan syndrome, Costello syndrome, and CFCS diagnosis should be considered in pregnancies with a normal karyotype and in the case of ultrasound findings such as increased nuchal translucency, polyhydramnios, macrosomia and cardiac defect.

Ultrasound prenatal diagnosis of congenital primary aphakia: case report.

Introduction: the ultrasound prenatal diagnosis of aphakia is a difficult diagnosis and often requires a genetic study of the karyotype.

Case Report: we present a rare case of prenatal bilateral aphakia, confirmed after bird. The patient was observed by ultrasound during the 23rd week of pregnancy.

A comparison between amniotic fluid index and the single deepest vertical pocket technique in predicting adverse outcome in prolonged pregnancy.

Objective: to compare perinatal outcome in induced postterm pregnancies with normal amniotic volume and in patients with prolonged pregnancy undergone induction for oligohydramnios, evaluated by two different ultrasonographic methods.

Methods: amniotic fluid volume was measured, using Single Deepest Vertical Pocket (SDVP) and Amniotic Fluid Index (AFI), in 961 singleton uncomplicated prolonged pregnancies. In 109 of these patients, hospitalization was planned for induction of labor, during or after 42 weeks of gestation, for oligohydramnios, postterm pregnancy and other indications in 47, 51 and 11 cases, respectively.

A new case of interstitial 1q 25.3-32.1 deletion: cytogenetic analysis molecular characterization and ultrasound findings.

Introduction: deletion of long arm of chromosome 1(1q-) is a rare condition. Clinical features include Dwarfism, severe mental retardation, microcephaly and short neck delineating the "intermediate 1q deletion syndrome".

Case Report: we report a new case of interstitial deletion of the long arm of chromosome 1, diagnosed in a 22+3 weeks gestation fetus in which cytogenetic analysis localized a loss of genetic materials of 18Mb in the 1q25.

Supplementation with a dietary multicomponent (Lafergin(®)) based on Ferric Sodium EDTA (Ferrazone(®)): results of an observational study.

During pregnancy, iron deficiency anemia is recognized as a specific risk factor for both adverse maternal and perinatal outcome. We decided to test the hypothesis that the daily administration of Lafergin(®), a dietary multicomponent based on Ferrazone(®) (Ferric Sodium EDTA), Lactoferrin, Vitamin C and Vitamin B12, from first trimester of pregnancy until the end of gestation, may significantly reduce, in anemic women, the severity of anemia compared to controls who received ferrous sulfate or liposomal iron.

Surgical treatment of high stage endometrial cancer: current perspectives.

Endometrial cancer is now the most common gynecologic malignancy. We investigate on new scientific evidences in endometrial cancer, particularly underlined updates in advanced endometrial cancer. Early stage endometrial cancer is the most frequent presentation; however, advanced endometrial cancer that occurs in 3-13 % of cases has bad prognosis.

Reference Charts for Fetal Cerebellar Vermis Height: A Prospective Cross-Sectional Study of 10605 Fetuses.

Objective: To establish reference charts for fetal cerebellar vermis height in an unselected population.

Methods: A prospective cross-sectional study between September 2009 and December 2014 was carried out at ALTAMEDICA Fetal-Maternal Medical Centre, Rome, Italy. Of 25203 fetal biometric measurements, 12167 (48%) measurements of the cerebellar vermis were available.

Management, prognosis and reproductive outcomes of borderline ovarian tumor relapse during pregnancy: from diagnosis to potential treatment options.

Background: fertility sparing surgery is the first option for treatment of childbearing age women affected by borderline ovarian tumor (BOT). This review put in evidence the benefits and the risks of conservative surgery procedure. Moreover, the literature review is aimed to analyze the possibility of fertility sparing surgery in BOTs and to define a standard treatment in the management of this pathology during pregnancy.

Congenital high airway obstruction syndrome (CHAOS): discussing the role and limits of prenatal diagnosis starting from a single-center case series.

Objectives: we aimed to report our experience about congenital high airway obstruction syndrome (CHAOS) that is a rare and fatal congenital anomaly; laryngeal atresia is the most frequent cause. Sonographic findings are enlarged echogenic lungs, dilated trachea, and ascites.

Methods: we performed a single-center case series analysis collecting antenatally through ultrasound examination, and some of them confirmed by autopsy.

Antenatal diagnosis of Seckel Syndrome: a rare case report.

Introduction: Seckel Syndrome is a rare autosomal recessive disorder characterized by dwarfism, microcephaly and the absence of visceral malformations.

Case Report: we observed sonographic features of a Seckel Syndrome, in a patient during the 24th week of pregnancy. Her family history was negative for malformation and chromosomal disorders.

Tubal primary metastatic choriocarcinoma coexistent with a viable early pregnancy: a case report.

Introduction: fallopian tube choriocarcinoma coexistent with viable intrauterine pregnancy is an extremely rare condition.

Case Report: we present the first case reported in literature of tubal choriocarcinoma coexistent with viable intrauterine pregnancy detected at early gestational age (20 weeks) and successfully managed by seriate monitoring of maternal and fetal health status until 31 weeks, then treated by cesarean section followed by etoposide, methotrexate, actinomycin D, cyclophosphamide, and vincristine (EMA-CO) chemotherapy protocol.

Conclusions: the outcome was favorable for both the mother and her fetus.

Comparison between modified Misgav-Ladach and Pfannenstiel-Kerr techniques for Cesarean section: review of literature.

In the last decades cesarean section rates increased in many countries becoming the most performed intraperitoneal surgical procedure. Despite its worldwide spread, a general consensus on the most appropriate technique to use has not yet been reached. The operative technique performed is made chiefly on the basis of the individual experience and preference of operators, the characteristics of patients, timing and urgency of intervention.