The PREgnancy and FERtility (PREFER) study: an Italian multicenter prospective cohort study on fertility preservation and pregnancy issues in young breast cancer patients.

BACKGROUND: Fertility and pregnancy issues are of key importance for young breast cancer patients. Despite several advances in the field, there are still multiple unmet needs and barriers in discussing and dealing with these concerns. To address the significant challenges related to fertility and pregnancy issues, the PREgnancy and FERtility (PREFER) study was developed as a national comprehensive program aiming to optimize care and improve knowledge around these topics. METHODS: The PREFER study is a prospective cohort study conducted across several Italian institution affiliated with the Gruppo Italiano Mammella (GIM) group evaluating patterns of care and clinical outcomes of young breast cancer patients dealing with fertility and pregnancy issues. It is composed of two distinctive studies: PREFER-FERTILITY and PREFER-PREGNANCY. The PREFER-FERTILITY study is enrolling premenopausal patients aged 18-45 years, diagnosed with non-metastatic breast cancer, who are candidates to (neo)adjuvant chemotherapy and not previously exposed to anticancer therapies. The primary objective is to obtain and centralize data about patients' preferences and choices towards the available fertility preserving procedures. The success and safety of these strategies and the hormonal changes during chemotherapy and study follow-up are secondary objectives. The PREFER-PREGNANCY study is enrolling survivors achieving a pregnancy after prior history of breast cancer and patients diagnosed with pregnancy-associated breast cancer (PABC). The primary objectives are to obtain and centralize data about the management and clinical outcomes of these women. Patients' survival outcomes, and the fetal, obstetrical and paediatric care of their children are secondary objectives. For both studies, the initial planned recruitment period is 5 years and patients will remain in active follow-up for up to 15 years. The PREFER-FERTILITY study was first activated in November 2012, and the PREFER-PREGNANCY study in May 2013. DISCUSSION: The PREFER study is expected to support and improve oncofertility counseling in Italy, to explore the real need of fertility preserving procedures, and to acquire prospectively more robust data on the efficacy and safety of the available strategies for fertility preservation, on the management of breast cancer survivors achieving a pregnancy and of women with PABC (including the possible short- and long-term complications in their children). TRIAL REGISTRATION NUMBER: ClinicalTrials.gov identifier: NCT02895165 (Retrospectively registered in August 2016).

Fetal surgery: an overview.

In utero fetal surgery interventions are currently considered in selected cases of congenital diaphragmatic hernia, cystic pulmonary abnormalities, amniotic band sequence, selected congenital heart abnormalities, myelomeningocele, sacrococcygeal teratoma, obstructive uropathy, and complications of twin pregnancy. Randomized controlled trials have demonstrated an advantage for open fetal surgery of myelomeningocele and for fetoscopic selective laser coagulation of placental vessels in twin-to-twin transfusion syndrome. The evidence for other fetal surgery interventions, such as tracheal occlusion in congenital diaphragmatic hernia, excision of lung lesions, fetal balloon cardiac valvuloplasty, and vesicoamniotic shunting for obstructive uropathy, is more limited. Conditions amenable to intrauterine surgical treatment are rare; the mother may consider termination of pregnancy as an option for many of them; treatment can be lifesaving but in itself carries risks to both the infant (preterm premature rupture of the membranes, preterm delivery) and the mother. This makes conducting prospective or randomized trials difficult and explains the relative lack of good-quality evidence in this field. Moreover, there is scanty information on long-term outcomes. It is recommended that fetal surgery procedures be performed in centers with extensive facilities and expertise. The aims of this review were to describe the main fetal surgery procedures and their evidence-based results and to provide generalist obstetricians with an overview of current indications for fetal surgery.

Assessment of the ductus arteriosus in fetuses with tetralogy of Fallot and the implication for postnatal management.

OBJECTIVE: To describe the antenatal and neonatal echocardiographic morphology and flow pattern of the ductus arteriosus in patients with tetralogy of Fallot. PATIENTS AND METHODS: We included patients with a prenatal diagnosis of tetralogy of Fallot between January 2006 and December 2012. RESULTS: Among the 52 fetuses with tetralogy of Fallot the severity of right ventricular outflow obstruction was considered mild in 32, moderate in 14, and severe in 6. In the mild right ventricular outflow obstruction group (n = 32) all had normal ductal morphology and flow pattern, eight (25%) elected for termination of pregnancy and two died in the neonatal period from extracardiac causes. In the moderate right ventricular outflow obstruction group (n = 14) the fetuses had a small ductus arteriosus with antegrade but abnormal flow velocity, one (7%) elected for termination of pregnancy. Immediately after birth the ductus arteriosus was very small or already closed at echocardiographic examination. Two out of 13 patients (15%) developed severe hypoxic spells and underwent modified Blalock-Taussig shunt during the neonatal period. Six fetuses were considered to have severe right ventricular outflow obstruction with flow reversal in the ductus arteriosus, three (50%) of whom elected for termination of pregnancy. The other three newborns underwent modified Blalock-Taussig shunt. CONCLUSION: In fetuses with tetralogy of Fallot, ductal diameter can be reduced even up to prenatal closure. Prenatal ductal morphology assessment may be useful for improving management of patients with moderate right ventricular outflow obstruction and small ductus arteriosus who may become cyanotic at birth.

Stepwise sequential screening for trisomy 21 in assisted reproduction pregnancies.

We offered a modified stepwise sequential integrated screening for Down syndrome to 72 singleton and 16 twin pregnancies obtained with assisted reproductive techniques, observing no cases of trisomy 21 and obtaining a false positive rate of 10% in singleton and 7% in twin pregnancies. In our population, this approach for regulating access to invasive karyotyping can avoid a substantial number of unnecessary procedures, comparing favourably with current practice even in spontaneous pregnancies.