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There are few 3D well-documented studies about thoraco- abdominal malformations, except for the evaluation of fetal lung volume. Three-dimensional ultrasound provides additional diagnostic information for the evaluation of fetal thorax both for the diagnosis of skeletal anomalies and the biometric measurements of lungs. 3D adds few information about the diagnosis of gastrointestinal malformations, but 3D images are an effective tool to make a careful advice with parents and pediatric surgeons, especially in fetuses with anterior wall defects. Until now its use must be reserved in a research setting and offered to high-risk patients in order to understand which role 3D may play in the study of thoraco-abdominal malformations as a screening or diagnostic tool.

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. Fetal DNA quantification in maternal plasma was carried out by real-time PCR on the SRY gene in male-bearing pregnancies to distinguish between maternal and fetal DNA. A cohort of 1,837 pregnant women was investigated. Fetal DNA could be detected from the sixth week and could be retrieved at any gestational week. No false-positive results were obtained in 163 women with previous embryo loss or previous male babies. Fetal DNA analysis performed blindly on a subset of 464 women displayed 99.4, 97.8 and 100% accuracy in fetal gender determination during the first, second, and third trimester of pregnancy, respectively. No SRY amplification was obtained in seven out of the 246 (2.8%) male-bearing pregnancies. Fetal DNA from maternal plasma seems to be an adequate and reliable source of genetic material for a noninvasive prenatal diagnostic approach.

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. If the nasal bone was present, its length was measured. The biparietal diameter: nasal bone length ratio (BPD/NBL) was also calculated. Results Nasal bone assessment was successfully achieved in all fetuses. The nasal bone was absent in 2(0.47%) of the 417 unaffected fetuses and in 10(55.5%) of the 18 fetuses with trisomy 21. Of the 8 Down syndrome cases with a nasal bone present, 4 had nasal bone hypoplasia and 4 had a normal nasal bone. BPD/NBL was 9 or greater in 7 of the 8 fetuses affected by trisomy 21 with nasal bone present and in 86 (20.6%) of the 417 normal fetuses; it was 10 or greater in 5 of the 8 (62.5%) fetuses affected by trisomy 21 and in 41 of the 417 (9.8%) euploid fetuses. Conclusions Nasal bone absence is a marker for Down syndrome in the second trimester of pregnancy. Inclusion of nasal bone length into the second-trimester screening protocol could potentially obviate the false-negative cases from other screening tests. The measurement of nasal bone length in the second trimester seems to provide additional benefits beyond the assessment of the presence or absence of the nasal bone. Copyright © 2005 John Wiley & Sons, Ltd.

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. If the nasal bone was present, nasal bone length was measured. Results Nasal bone assessment was successfully achieved in 1027 of 1089 (94.3%) ultrasound examinations. Within this group nasal bone was absent in 10 of 1000 (1.0%) unaffected cases, 10 of 15 (66.7%) Down syndrome cases and 5 of 12 (41.7%) cases with other pathological conditions. Regression analysis showed a significant increase (P < 0.0001) in nasal bone length from 2.48 mm at a crown‐rump length of 45 mm to 3.12 mm at a crown‐rump length of 84 mm. The nasal bone length in the five cases of Down syndrome in which the nasal bone was present was less than the median measurement of unaffected cases. Using modeling, the combination of nasal bone with maternal age, nuchal translucency, free beta-human chorionic gonadotropin (hCG) and pregnancy associated plasma protein-A (PAPP-A) achieved a detection rate of 95% with a false-positive rate of 2.9%. At a fixed 1% falsepositive rate, the detection rate was 91%. Conclusions Absence of the nasal bone can be used as a marker for Down syndrome in the first trimester of pregnancy. Inclusion of the nasal bone in the current first-trimester screening protocol along with nuchal translucency, free beta-hCG and PAPP-A can achieve high detection at a very low false-positive rate. Large datasets are needed to confirm whether the measurement of nasal bone length provides additional benefits beyond the assessment of the presence or absence of the nasal bone. Copyright  2003 ISUOG. Published by John Wiley & Sons, Ltd.

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. Results A successful view of the fetal profile was obtained in 1752 fetuses (91.9%). The nasal bone was hypoplastic/absent in 12 of 19 fetuses with chromosomal abnormalities. There were 10 cases of trisomy 21, in 8 of which hypoplastic/absent nasal bone was observed. Furthermore, absence of nasal bone was recorded in 24 of 1733 chromosomally normal fetuses. Conclusions Nasal bone evaluation may improve the detection of trisomy 21 in the first trimester in an unselected obstetric population. Although numerically limited, our experience confirms that delayed nasal bone ossification (hypoplasia/absence of nasal bone) is rarely observed in chromosomally normal fetuses (1.4%). An appropriate training of operators is mandatory in order to achieve an acceptable performance. Copyright © 2003 John Wiley & Sons, Ltd.

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.

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. Exclusion criteria comprised all maternal and/or fetal conditions possibly affecting fetal biometry. The following biometric variables were measured: biparietal diameter, head circumference, abdominal circumference, femur, tibia, humerus, ulna and radio length. The statistical procedure recommended for analyzing this type of data set was employed to derive normal ranges and percentiles. Birthweight was also recorded. Our centiles were then compared with results from other studies. Results The best-fitted regression model to describe the relationships between head circumference and abdominal circumference and gestational age was a cubic one, whereas a simple quadratic model fitted BPD, and length of long bones. Models fitting the SD were straight lines or quadratic curves. Neither the use of fractional polynomials (the greatest power of the polynomials being 3) nor the logarithmic transformation improved the fitting of the curves. Conclusion We have established size charts for fetuses from Italian couples using the recommended statistical approach. Since the mean birthweight in this study is not statistically different from the official birthweight reported for the Italian population, these reference intervals, developed according to the currently approved statistical methodology, can be employed during second- and third-trimester obstetric ultrasound of fetuses from Italian couples. Copyright © 2005 John Wiley & Sons, Ltd.

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.

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. Furthermore, new kind of mutations recently reported in the literature raise questions about their prognostic significance and how their carriers can be better screened, counseled and managed. These problematic issues will be encountered with increasing frequency in the near future, since many other more mutations are sure to be discovered. The PTEN gene mutation has been implicated in various human tumors, mainly in the breast and the thyroid gland. In the course of a screening program, the early identification of patients affected by a genetic mutation, which is rare, improves the definition of the prognosis and the therapeutic options.

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 karyotype was normal in both fetuses. First-trimester fetal echocardiography was performed and, in both cases, complex congenital heart disease was diagnosed. We discuss the added role of fetal heart rate in first-trimester ultrasound screening, in fetuses with increased nuchal translucency and normal karyotype. We stress, as well, the importance of echocardiography performed in the first trimester as a potential tool for early diagnosis in selected cases.

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. Results were compared with those obtained by conventional cytogenetic analysis. In 17,129 tests, normal fetuses were detected by QF-PCR. No false positives were observed. All 732 cases of trisomy 21, 18, 13, triploidies, double trisomies as well as all but one fetuses with X and Y aneuploidies were correctly diagnosed. Chromosome mosaicism could also be suspected in several samples. In some cases of in vitro culture failures, QF-PCR was the only evidence of fetal X, Y, 21, 18 and 13 chromosome complement. QF-PCR proved to be efficient and reliable in detecting major numerical chromosome disorders. The main advantages of the molecular assay are its very low cost, speed and automation enabling a single operator to perform up to 40 assays per day. QF-PCR relieves anxiety of most parents within 24 h from sampling and accelerates therapeutic interventions in the case of an abnormal result. In countries where large scale conventional cytogenetics is hampered by its high cost and lack of technical expertise, QF-PCR may be used as the only prenatal diagnostic test.

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. Other malformations were present in 5 cases (19.2%), 1 fetus had trisomy 21, and 1 fetus had intrauterine growth retardation (IUGR). Twenty-five pregnancies ended in liveborn infants, and there was 1 case of unexplained intrauterine death in the fetus with IUGR affected by varix of the umbilical vein. Conclusions: Fetal venous anomalies are very rare and may be associated with fetal malformations or IUGR. Conservative management appears to be an adequate medical practice in the absence of other fetal problems, but in the presence of a varix of the umbilical vein, serial follow-up scans are needed to exclude the onset of hydrops or thrombosis of the varix.

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.

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.

A prospective study was performed on 2119 pregnancies that underwent genetic amniocentesis. Indications for amniocentesis were either maternal age (⩾35) or triple-test results (risk⩾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. Only fetuses with normal karyotype or trisomy 21 were considered. Six minor sonographic markers were considered: nuchal thickness, pyelectasia, femur observed/expected and humerus observed/expected ratios, bowel echogenicity, and choroid plexus cysts. One or more ultrasound soft markers were present in 23 out of 33 fetuses with Down syndrome (70%) and in 572 out of 2069 normal fetuses (28%). Copyright © 2001 John Wiley & Sons, Ltd.

12 The triple test, based on alphafetoprotein (AFP), unconjugated estriol (uE3), and human chorionic gonadotropin (hCG), as well as maternal age is commonly used in Italy, and good results have been achieved (detection rate 78.9%,false positive rate 8.9% at maternal ages of 27‐35 years 3 ). Fetal nuchal translucency thickness (NT) at 10 to 14 weeks of gestation combined with maternal age has more recently been used in screening for Down’s syndrome, with an estimated detection rate of about 80% at a cut oV risk of 1 in 300 or higher. 4

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. Second, it enables appropriate arrangements for delivery to be made including its timing and selection of the appropriate clinical team necessary to support the neonate. After birth these cranio-facial anomalies can regress spontaneously, but plastic surgery is often necessary.

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.

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.

Clinical management of this anomaly, which in some casesmay be associated with a poor outcome, is not well defined.Fetal monitoring using color flow Doppler has been pro-posed to exclude the presence of complications, includingvein thrombosis.We present a case of thrombosis of the varix of the fetalumbilical vein at 32 weeks’ gestation.

Conclusions: This study defines GGT reference values for GW 16–22 in normal pregnancies. The amniotic fluid was analyzed by the Integra 800. This analyzer is commonly used in clinical laboratories and no reference values exist. An important value of the study was defining reference values until GW 22. This prolongation beyond 20 weeks is important in the workup of non-visualization of the gallbladder when anomaly scans are done in these later weeks. In conclusion, these reference values may be useful in differentiating between EHBA and other biliary pathologies.

CB04 monoclonal antibody which reacts with an epitope of a surface molecule expressed on human monocytes has been elicited using peripheral blood lymphocytes as immunizer. The characterization of the monoclonal antibody examined at the phenotypic, molecular, and functional levels indicates that the CB04 antibody defines a structure present on monocytes, tissue macrophages, B cells, polymorphonucleates, and erythrocytes. The molecular weight (220 kD), the tissue distribution in health and disease conditions, and the involvement in relevant biological processes indicate that the CB04 structure is the receptor for the C3b fragment of the complement. The binding of the antibody to the cell surface induces inhibition of the C3bi receptorial function.

The observed cost of amniocentesis for the prenatal diagnosis of chromosomal aberrations in pregnancies at risk because of advanced maternal age was compared with the estimated cost of chorionic villi biopsy (CVB). The cost of CVB was estimated to be 22% less than that of amniocentesis when the cost of the sampling procedure, the laboratory charges and the cost of spontaneous and therapeutic abortions were considered.

The fetus uses for the protein synthesis the amino-acids of the labelled albumin injected into the amniotic fluid (2); he is also able to swallow and to exploit for his nutrition the amino-acids directly injected into the amniotic cavity (1, 4, 5). This is the assumption for the use of the intra-amniotic injection of amino-acids in order to nourish the fetus in case of placental insufficiency (1, 4, 5.

A 32 year old patient in her 25th week of gestation was hospitalized for endouterine fetal death. The sample patient in previous years had 2 cesarean sections, both times for early detachment of the placenta with consequent fetal death. Cervical dilatation was induced with a Hagar dilator and with laminaria tents, sudden spontaneous and strong contractions led to echography which showed uterine rupture. Laparotomy and hysterectomy were then performed. The use of laminaria followed by surgical evacuation is considered almost free of side effects in the first half of 2nd trimester pregnancy, while prostaglandins are preferred in the 2nd half. According to recent studies laminaria can provoke strong contractions in about 30% of cases and especially if the patient is nulliparous. This last risk factor negatively influenced the outcome of uterine evacuation in the case presented here since the uterine wall had already been weakened by 2 preceding cesarean sections.

Investigations of the influence of fetal breathing movements (FBM) upon the fetal heart rate (FHR) have been performed on fetal lambs by FOURON et al. [7], DALTON et al. [3], and on monkey fetuges by MARTIN et al. [10] and ADAMSONS et al. [1], They found that fetal breathing was associated with an increase in heart rate variability, while mean heart rate changed unpredictably, along with a respiratory sinus arrhythmia. So far only three groups have published studies in which both fetal breathing and the FHR have been recorded simultaneously in the human fetuses: TIMOR-TRITSCH et al. [12], WHEELER et al. [13] and DAWES et al. [5]. The purpose of this work is to study the relationship between FHR and fetal breathing. This was done using precision noninvasive ultrasonic techniques capable of simultaneous detection and recprding of the two parameters; thus, in order to do this, a multitransducer with TM-mode recorder was used. This methodology permits a reliable measurement of FHR intervals during apnea and in the presence of fetal breathing

Six cases of cystic hygromas detected during second trimester ultrasound examination are reported: 4 fetuses (67 per cent) had a 45, X karyotype, 1 fetus had trisomy 18, 1 fetus had a normal karyotype (46,XX) and at autopsy multiple anomalies were observed. In the latter case the family history suggested an autosomal recessive pattern of inheritance. In order to reach a definite diagnosis and give proper genetic counselling when a fetus is found to have cystic hygroma, a fetal karyotype as well as a family and reproductive history should be obtained.