Controlled ovarian stimulation and IVF pregnancy in a trisomy X carrier with associated hypogonadotropic hypogonadism.

We describe successful controlled ovarian stimulation (COS) and the first known IVF pregnancy in a trisomy X carrier with associated hypogonadotropic hypogonadism (HH) linked to a chromosome 4 double mutation in the allele of the Gonadotropins Releasing Hormone receptor (GnRHr) gene. Previous administration of low dose of gonadotropins, as recommended in patients with HH, led to poor follicular recruitment. Since trisomy X is a risk factor for diminished ovarian reserve (DOR) and premature ovarian insufficiency (POI), higher doses of gonadotropins led to better ovarian response.

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.

Maternal periconceptional factors affect the risk of spina bifida-affected pregnancies: an Italian case-control study.

Purpose: Neural tube defects, including spina bifida and anencephaly, are the second most common birth defects with an incidence in Italy of 0.4-1/1,000. Information on factors playing a role in the pathogenesis of spina bifida is based on populations with different exposures, lifestyle, social and cultural habits compared to Italian people.

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.

Association between birth weight and first-trimester free beta-human chorionic gonadotropin and pregnancy-associated plasma protein A.

Study Objective: To assess the relationship between first-trimester maternal serum PAPP-A and free beta-hCG and birth weight.

Design: Observational study.

Setting: Teaching hospital.

Outcomes of the first midwife-led birth centre in Italy: 5 years' experience.

Objective: To assess the experience of the first 5 years of the first midwife-led birth centre (MLBC) in Italy.

Study Design: Data were prospectively collected to analyse the first 5 years' experience of the MLBC. MLBC is located alongside a University hospital maternity unit and it offers care to women with a straightforward pregnancy and midwives take primary professional responsibility for care.

Correlation between first-trimester uterine artery Doppler indices and maternal serum free beta-human chorionic gonadotropin and pregnancy-associated plasma protein A.

Objective: To assess the correlation between first-trimester uterine artery Doppler measurements and maternal serum levels of free beta-hCG and pregnancy-associated plasma protein A (PAPP-A).

Design: Observational study.

Setting: Teaching hospital.

A randomized comparison of suturing techniques for episiotomy and laceration repair after spontaneous vaginal birth.

Study Objective: To compare the continuous knotless technique of perineal repair with the interrupted method after spontaneous vaginal birth

Design: A randomized controlled trial.

Design Classification: Canadian Task Force Classification I.

Setting: This study was undertaken in a university hospital with more than 2200 deliveries per year.

Correlation between first trimester fetal bone length and maternal serum pregnancy-associated plasma protein-A (PAPP-A).

Background: Pregnancy-associated plasma protein-A (PAPP-A) is produced by the embryo and placenta during pregnancy, and its maternal serum concentrations are related to subsequent fetal growth. Evidence from animal models and in vitro experiments suggests that PAPP-A is particularly involved in the regulation of bone development. The aim of this study was to assess the correlation between late first trimester fetal bone length and maternal serum levels of PAPP-A.