Fetal Presentation of Walker-Warburg Syndrome with Compound Heterozygous Missense Mutations.

Walker-Warburg syndrome (WWS) (OMIM #236670) is an autosomal recessive disorder characterized by congenital muscular dystrophy, hydrocephalus, cobblestone lissencephaly, and retinal dysplasia. The main genes involved are: , and . We present a fetus with WWS showing at ultrasound severe triventricular hydrocephalus.

The impact of assisted reproductive technology and chorionicity in twin pregnancies complicated by obstetric cholestasis.

Objective: To assess in a cohort of twin pregnancies the prevalence of obstetric cholestasis (OC) and its correlation with the type of conception and chorionicity.

Methods: A retrospective cohort study including all the twin pregnancies delivered between 2005 and 2013 at our University Hospital was carried out. In the study population, the prevalence of OC was investigated in relationship to the impact of assisted reproductive technology (ART) and of chorionicity.

Prenatal diagnosis versus first-trimester screening of trisomy 21 among pregnant women aged 35 or more.

Objective: To compare the policy of prenatal diagnosis versus first trimester screening of trisomy 21 among pregnant women of advanced age.

Methods: A retrospective study was conducted on patients aged ≥35 divided in two groups: patients who requested first trimester combined test and only in case of screen-positive result underwent invasive testing (group A); patients undergoing chorionic villous sampling or amniocentesis as first investigation (group B). The following outcome variables were compared: antenatal detection of trisomy 21, occurrence of trisomy 21 at birth, miscarriage rate, hospitals' costs.

The descent of the fetal head is not modified by mobile epidural analgesia: a controlled sonographic study.

The aim of our study was to assess the sonographic indices of fetal head progression obtained by three-dimensional ultrasound during the second stage of labor in women with and without mobile epidural analgesia. Sonographic volume data sets were obtained with a transperineal approach every 20 min from the beginning of the active second stage until delivery. The ultrasound parameters were calculated off-line from each volume and compared between women with and without epidural analgesia.

Significance of uteroplacental Doppler at midtrimester in patients with favourable obstetric history.

Objective: To reassess the usefulness of midtrimester uterine Doppler in low-risk multiparous women.

Methods: We prospectively recruited low-risk pregnant women at 20-22 weeks attending our clinic. Among those, women with a favourable obstetric history (group A) were distinguished from nulliparous (group B) and of each group we measured uterine artery Doppler (pulsatility index (PI)).

Three-dimensional ultrasound is an accurate and reproducible technique for fetal crown-rump length measurement.

Objective: The aim of the study was to evaluate the accuracy and reproducibility of fetal crown-rump length (CRL) measurement using three-dimensional ultrasound (3DUS).

Methods: We included a series of women with singleton pregnancy at 6-13 + 6 weeks. Following CRL measurement by the two-dimensional ultrasound (2DUS), a 3DUS volume was acquired.

Screening for pre-eclampsia by using changes in uterine artery Doppler indices with advancing gestation.

Objective: The aim of the study was to assess the relationship of changes in uterine artery (UtA) Doppler pulsatility indices (PI) between first and second trimesters and the subsequent development of pre-eclampsia.

Methods: A retrospective study of singleton pregnancies undergoing both first and second trimesters UtA Doppler screening between 2002 and 2009 was conducted. Multiples of median of UtA Doppler PI were used for developing indices describing UtA changes between the two trimesters.

Mode of delivery in the preterm gestation and maternal and neonatal outcome.

Objective: To determine if the mode of delivery in preterm gestations is associated with changes in maternal and neonatal outcome.

Methods: A retrospective cohort study that included all singleton deliveries occurring after spontaneous onset of labour between 25+0 and 32+6 weeks of gestation. Cases of early preterm delivery were identified from clinical records and classified according to the mode of delivery.

Neonatal hypoxic-ischemic encephalopathy in apparently low risk pregnancies: retrospective analysis of the last five years at the University of Bologna.

Objective: To provide recent figures on the occurrence of neonatal hypoxic-ischemic encephalopathy (NHIE) from a Teaching Hospital.

Study Design: A retrospective case-control study was conducted in a tertiary level university hospital with more than 3000 deliveries annually. Twenty-four cases of NHIE that occurred in apparently low-risk pregnancies were analysed and compared to a group of controls for the most common labor variables.

A second trial of clozapine in a case of granulocytopenia.

It is generally believed that agranulocytosis, a major problem with clozapine treatment, will tend to occur dose-dependently once it develops in an individual. Therefore, despite clinical progress obtained, the drug has to be discontinued and treatment shifts to another drug. We report on the case of a 29-year-old woman with DSM-IV undifferentiated schizophrenia who developed agranulocytosis after 5 years of 300 mg/day clozapine treatment.