Trisomy 18: Fetal ultrasound findings at different gestational ages.

The aim of this article is evaluate the sonograhic findings in fetuses with trisomy 18 at different gestational ages. The cases were recruited from pregnant women, who underwent to prenatal diagnosis in the period from October 1995 to September 2006. Seventy-one fetuses with trisomy 18 were diagnosed.

First-trimester fetal heart block and increased nuchal translucency: an indication for early fetal echocardiography.

Prevalence of congenital heart disease increases with nuchal translucency (NT) thickness. First-trimester fetal bradycardia may result from heart block associated with complex congenital heart disease. We report two cases detected in the first trimester of pregnancy, in which both fetuses showed an increased nuchal translucency and bradycardia.

Fetal nasal bone and trisomy 21 in the second trimester.

Objectives: To assess the feasibility of measuring nasal bone length in the second trimester of pregnancy and to confirm if fetal nasal bone absence or hypoplasia is a marker for Down syndrome.

Methods: Fetal nasal bone assessment was performed in 439 consecutive singleton pregnancies at high risk of Down syndrome between 15 and 21 weeks. All ultrasound examinations were performed transabdominally by five skilled sonographers.

Fetal size charts for the Italian population. Normative curves of head, abdomen and long bones.

Objective: To describe size charts developed from fetuses of Italian couples.

Method: Prospective cross-sectional investigation conducted in three referral centers for prenatal diagnosis. The population of the study included fetuses between the 16th and the 40th week of gestation recruited prospectively and examined only once for the purpose of this study.

Fetal DNA detection in maternal plasma throughout gestation.

The presence of fetal DNA in maternal plasma may represent a source of genetic material which can be obtained noninvasively. We wanted to assess whether fetal DNA is detectable in all pregnant women, to define the range and distribution of fetal DNA concentration at different gestational ages, to identify the optimal period to obtain a maternal blood sample yielding an adequate amount of fetal DNA for prenatal diagnosis, and to evaluate accuracy and predictive values of this approach. This information is crucial to develop safe and reliable non-invasive genetic testing in early pregnancy and monitoring of pregnancy complications in late gestation.

Rapid prenatal diagnosis of common chromosome aneuploidies by QF-PCR. Assessment on 18,000 consecutive clinical samples.

The quantitative fluorescent PCR (QF-PCR) assay, introduced during the last few years, allows prenatal diagnoses of common chromosome aneuploidies in a few hours after sampling. We report the first assessment of QF-PCR performed on a large cohort of 18,000 consecutive clinical specimens analysed in two different Centres. All samples were analysed by QF-PCR using several selected STR markers together with amelogenin and, occasionally, SRY for fetal sexing.

Anomalies of the fetal venous system: a report of 26 cases and review of the literature.

Objective: To evaluate sonographic appearance, natural history, and neonatal outcome of fetal venous anomalies.

Methods: We performed an observational study, including all fetuses affected by abnormalities of the venous system diagnosed by ultrasound during the prenatal period.

Results: 26 fetuses were identified.

Feasibility study for a microchip-based approach for noninvasive prenatal diagnosis of genetic diseases.

Fetal DNA in maternal plasma may represent a source of genetic material for prenatal noninvasive diagnosis of genetic diseases. We evaluated a cohort of physiological pregnancies to determine if fetal DNA can be retrieved at any gestational week in sufficient quantity to be analyzed with advanced mutation detection technologies. We performed fetal DNA quantification by real-time polymerase chain reaction (PCR) on the SRY gene in 356 women sampled from 6 to 40 gestational weeks.

Screening-detected breast carcinoma in a patient with Cowden syndrome.

Cowden syndrome is a hereditary genetic disease whose incidence is still not precisely defined; it is due to a germline mutation in the PTEN gene. We reported a case of breast tumor caused by a PTEN gene mutation, which was detected within a National Screening Program; the diagnosis of Cowden syndrome was made on the basis of patient's particular clinical history. The identification of new genetic mutations has allowed clarification of some of the mechanisms that increase the risk of developing some types of tumors.

Ultrasound evaluation of fetal nasal bone at 11 to 14 weeks in a consecutive series of 1906 fetuses.

Objective: The aim of this study is to evaluate the significance of nasal bone ossification as a marker for trisomy 21 at 11 to 14 weeks' gestation in an unselected obstetric population referred to our Centre.

Methods: A total of 1906 consecutive fetuses undergoing nuchal translucency scan at 11 to 14 weeks' gestation were evaluated for the presence of hypoplasia/absence of nasal bone. The data obtained were correlated with fetal karyotype.

Measurement of nasal bone length at 11-14 weeks of pregnancy and its potential role in Down syndrome risk assessment.

Objectives: To assess the feasibility of measuring nasal bone length in first-trimester pregnancy and to confirm if the absence of a fetal nasal bone is a marker for Down syndrome.

Methods: Fetal nasal bone assessment was attempted in 1089 consecutive singleton pregnancies between 11 and 14 weeks' gestation. All ultrasound examinations were performed transabdominally in three separate centers.

Prenatal diagnosis of isolated unilateral pulmonary agenesis in the second trimester.

Unilateral pulmonary agenesis is a very rare developmental malformation that is often associated with other anomalies including non-immune hydrops. We describe a case of isolated unilateral pulmonary agenesis diagnosed in the second trimester by gray-scale and color Doppler ultrasound.

Three-dimensional ultrasound evaluation of short-rib polydactyly syndrome type II in the second trimester: a case report.

Prenatal diagnosis of short-rib polydactyly syndrome is possible and has been reported in literature, but a precise ultrasound diagnosis is not easy. We report a case in which three-dimensional ultrasound was used in the evaluation of the disorder. The contribution and potential application of three-dimensional sonography in the prenatal diagnosis of short-rib polydactyly syndrome and other fetal skeletal malformations is discussed.

Minor sonographic signs of trisomy 21 at 15-20 weeks' gestation in fetuses born without malformations: a prospective study.

A prospective study was performed on 2119 pregnancies that underwent genetic amniocentesis. Indications for amniocentesis were either maternal age (> or =35) or triple-test results (risk> or =1/380). The study covered a 36-month period and assessed the prevalence of minor ultrasound markers both in fetuses with Down syndrome and normal control fetuses at 15-19 week' gestation.

Ultrasonographic detection of fetal cranio-facial hemangioma: case report and review of the literature.

A case of an isolated cranio-facial vascular anomaly, extending from the left parietal bone to the lateral margin of the omolateral orbit is presented. Detection and differential diagnosis of fetal hemangioma is important for a variety of reasons. First, it allows the prenatal growth of the mass to be evaluated.

Arteriovenous fistulas of the placenta in a singleton fetus with large atrial septal defect and anomalous connection of the umbilical veins.

Arteriovenous fistulas of the placenta rarely occur in singleton pregnancies. This report describes the fetal and neonatal hemodynamic pattern in a singleton gestation in which multiple placental artery-to-vein anastomoses were associated with a large atrial septal defect and a single umbilical artery with an anomalous connection of the persistent right and left umbilical veins. Possible links between the extracardiac vascular malformation and the congenital heart defect are discussed.