Thanatophoric dysplasia type I associated with increased nuchal translucency in the first trimester: Early prenatal diagnosis using combined ultrasonography and molecular biology.

A case of thanatophoric dysplasia (TD) type I associated with severely increased nuchal translucency at first trimester screening for Down syndrome is reported. A 38-year-old woman, G2P1, with previous uneventful pregnancy, was referred for amniocentesis at 16 weeks due to positive first trimester integrated test. Amniocentesis revealed a 46,XX fetus.

Early detection (9+6 weeks) of cardiac failure in a fetus diagnosed as Turner syndrome by 2D transvaginal ultrasound-guided coelocentesis.

A 28-year-old woman was diagnosed by transvaginal ultrasound at 9+6 weeks with early fetal cardiac failure (hydrothorax and bradycardia). Doppler analysis of ductus venosus showed a negative A-wave pattern. The follow-up sonogram obtained at 11+6 weeks documented a missed abortion.

"Multicystic dysplastic kidney (Potter type II syndrome) and agenesis of corpus callosum (ACC) in two consecutive pregnancies: a possible teratogenic effect of electromagnetic exposure in utero".

Agenesis of the corpus callosum is found in about 5 per 1,000 births and it is due to maldevelopment or, secondary, to destructive lesions. Multicystic dysplastic kidneys is a consequence of either developmental failure of the mesonephric blastema to form nephrons or to early urinary obstruction due to urethral or ureteric atresia and can be found in about 1 per 1,000 live births. A case of fetal multicystic dysplastic kidney disease (Potter type II syndrome) and complete agenesis of the corpus callosum demonstrated by the presence of Probst bundles associated with colpocephaly occurring in the same mother in her two consecutive pregnancies is reported.

First trimester diagnosis of iniencephaly associated with fetal malformations and trisomy 18: report of a new case and gene analysis on folate metabolism in parents.

Iniencephaly is a rare congenital malformation consisting of a complex alteration of the embryonic development occurring around the third post-fertilization week and characterized by a hyper-retroflexion of the cephalic pole. We report a case of iniencephaly associated with acrania-encephalocele, spina bifida and abnormal ductus venosus in a fetus with trisomy 18 diagnosed at 12 week's gestation in a 41-year-old woman. A co-occurrence between aneuploidy and iniencephaly was documented and polymorphisms on folate metabolism-related genes were investigated in the parents to assess possible etiologic factors and recurrence risk for neural tube defects (NTD).

Cerebro-fronto-facial syndrome (Dandy-Walker Variant and frontofacial dysmorphisms): report of the first case identified by increased nuchal translucency beyond 13(+6) weeks.

A 32-year-old gravida 2, para 1 woman, with a previous uneventful pregnancy, underwent first trimester ultrasound screening for Down syndrome at 13 weeks according to the Fetal Medicine Foundation guidelines (http://www.fetalmedicine.com/pdf/11-14/english/FMF-English.

[Innovations of the Stark method for cesarean section. Comparison of techniques].

Background: The evolution of surgical techniques for cesarean section have improved the neonatal outcome as well as maternal morbidity and mortality. Aim of this study is to compare the conventional technique with a personally modified Stark's technique, in order to evaluate its effectiveness.

Methods: A prospective study has been carried out on a group of patients submitted to cesarean section by two different teams.