Prenatal ultrasound and MRI Diagnosis of Jeune syndrome type I (asphyxiating thoracic dystrophy) with histology and post-mortem three-dimensional CT confirmation.

Asphyxiating thoracic dystrophy (ATD) also known as Jeune syndrome is a rare autosomal recessive multisystem disorder with an incidence estimated in 1:100.000-130.000 live births. Associated findings may include hepatic fibrosis and renal cysts. A prenatal ultrasound and MRI diagnosis performed in the early second-trimester of pregnancy is reported together with DNA analysis. Post-mortem diagnostic investigations such as radiograph and three-dimensional CT scan and histology have been useful in the final diagnosis of this rare skeletal dysplasia.

Craniosynostosis: prenatal diagnosis by means of ultrasound and SSSE-MRI. Family series with report of neurodevelopmental outcome and review of the literature.

INTRODUCTION: Craniosynostosis is a condition characterized by a premature closure of one or more skull sutures and refers to a wide spectrum of cranial malformation with an estimated birth of 1:2,000-1:4,000 live births. Four receptors (FGFR 1, FGFR 2, FGFR 3, FGFR 4) involving mutation in the fibroblast growth factor have been identified. MATERIALS AND METHODS: Two cases occurred in the same family and diagnosed prenatally by means of ultrasound, and antenatal and postnatal MR imaging are reported. Molecular biology regarding identification of craniosynostosis type has been analyzed. A revision of the medical literature is also provided. CONCLUSION: The premature closure of sagittal suture is characterized by a disproportionately large occipito-frontal and short biparietal diameter (scaphocephaly). The prenatal ultrasound diagnosis of craniosynostosis in utero may be difficult and be suspected when the cephalic index, the cranial shape or the fetal face shape are abnormal. Fetal karyotype is recommended and DNA testing plays a critical role in achieving an appropriate diagnosis, when possible. The prognosis of craniosynostosis is primarily dependent on the presence of associated anomalies as craniosynostosis are correlated with three to fivefold increased risk for cognitive disabilities.

Prenatal diagnosis of tricuspid atresia with hypoplastic right ventricle associated with truncus arteriosus communis type II.

PURPOSE: To confirm the central role of antenatal echocardiography and necropsy in the prenatal diagnosis of rare congenital heart defects. METHODS: A 33-year-old woman undergoing second trimester scan using 2D transabdominal and Doppler sonography. RESULTS: The echocardiographic examination showed, at the level of the four-chamber view, a predominant left ventricle with a rudimental right ventricle and a single artery emerging with failed visualization of the pulmonary trunk: a diagnosis of truncus arteriosus communis associated with tricuspid atresia and hypoplastic right heart was made. No other ultrasound-associated anomalies were seen. Fetal karyotype and 22q11.2 microdeletion for Di George syndrome were sought using cordocentesis performed at 21 weeks and both the results were normal. After extensive counselling, the couple opted for termination of pregnancy at 22 weeks gestation. Necroscopy confirmed the prenatal ultrasound diagnosis. Necroscopy of the heart was performed in a manner that resembled the fetal echocardiographic examination and revealed two atria, two atrio-ventricular valves with recognizable mitral and tricuspid morphology, a prevalent ventricle of left-type and a rudimental ventricle of right type and a ventricular septal defect. The common truncus was seen coming out above the ventricular septum, whilst the pulmonary arteries arise separated from the truncus communis. No other structural thoraco-abdominal anomalies were found. CONCLUSIONS: A combined diagnostic strategy based on second trimester fetal echocardiography, genetic analysis and necroscopy has made identification of a rare congenital heart disease possible.

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). An homozygous state for the MTRR polymorphism was diagnosed in the mother, identifying a clinical risk for NTD. Once iniencephaly or any other NTD are suspected, genetic analysis, second level ultrasound and fetal karyotype are recommended. Autopsy should also be performed in all cases of early ultrasound-based diagnosis of fetal malformations.