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Objective: To estimate the incidence of septations in fetuses with increased nuchal translucency (NT) thickness, and to investigate the relationship between the length and thickness of the translucency and whether the length or septations provide useful information concerning the fetal karyotype in addition to that provided by the NT thickness alone. Methods: We examined 386 fetuses with NT thickness equal to or above the 95th percentile for crown-rump length (CRL). A transverse suboccipitobregmatic section of the fetal head was taken to determine whether the sonolucency was septated, and a midsagittal longitudinal section was used to measure NT thickness, CRL, the longitudinal distance between the occiput and the lower end of the sonolucency toward the fetal sacrum (NT length) and the length between the occiput and the sacral tip (spinal length). Logistic regression analysis was used to investigate the effect on abnormal karyotype of CRL, NT thickness, and percentage of NT length to spinal length. Results: Septations within the translucency were observed in all fetuses. The fetal karyotype was abnormal in 83 (21.5%) pregnancies, and multiple regression showed that the only significant independent predictor of abnormal karyotype was fetal NT thickness. Conclusion: Septations within the translucency can be seen in all fetuses, and therefore this feature cannot be used to distinguish between increased NT and cystic hygromas. The length of the translucency is related to its thickness and does not give useful information concerning the fetal karyotype in addition to that provided by the NT thickness alone. Level Of Evidence: II-2. [ABSTRACT FROM AUTHOR]

OBJECTIVE: The purpose of this study was to examine the sonographic features of trisomy 13 at 11 to 13(+6) weeks of gestation. STUDY DESIGN: This was a retrospective study that examined the features of trisomy 13 at the ultrasound scan at 11 to 13(+6) weeks of gestation, which in our center is performed for the measurement of crown-rump length, nuchal translucency thickness, and fetal heart rate and the examination for major defects. RESULTS: In the 181 fetuses with trisomy 13, there were holoprosencephaly, exomphalos, and/or megacystis in 92 fetuses (50.2%), fetal heart rate above the 95th percentile in 129 fetuses (71.3%), and nuchal translucency above the 95th percentile in 141 fetuses (77.9%). There was no significant association between nuchal translucency and fetal heart rate, and it was estimated that inclusion of fetal heart rate in nuchal translucency screening can improve the detection rate of trisomy 13 by approximately 5%. CONCLUSION: At the 11 to 13(+6)-week scan, the measurement of fetal nuchal translucency and fetal heart rate and fetal examination for holoprosencephaly, exomphalos, and megacystis can identify >90% of fetuses with trisomy 13. [ABSTRACT FROM AUTHOR]

Objective: To examine the prevalence and distribution of all chromosomal defects in fetuses with increased nuchal translucency thickness. Methods: Assessment of risk for trisomy 21 was carried out by a combination of maternal age and fetal nuchal translucency thickness at 11-13 + 6 weeks. A search of the database was made to identify, first, all singleton pregnancies in which fetal karyotyping was carried out and, second, the cases where the fetal nuchal translucency was equal to or above the 95th centile for fetal crown-rump length. The prevalence and distribution of chromosomal defects were determined for each nuchal translucency category: between the 95th centile for crown-rump length and 3.4 mm, 3.5-4.4 mm, 4.5-5.4 mm, 5.5-6.4 mm, 6.5-7.4 mm, 7.5-8.4 mm, 8.5-9.4 mm, 9.5-10.4 mm, 10.5-11.4 mm, and 11.5 mm or more. Results: The search identified 11,315 pregnancies. The median maternal age was 34.5 (range 15-50) years, and the median fetal crown-rump length was 64 (range 45-84) mm. The fetal karyotype was abnormal in 2,168 (19.2%) pregnancies, and the incidence of chromosomal defects increased with nuchal translucency thickness from approximately 7% for those with nuchal translucency between the 95th centile for crown-rump length and 3.4 mm to 75% for nuchal translucency of 8.5 mm or more. In the majority of fetuses with trisomy 21, the nuchal translucency thickness was less then 4.5 mm, whereas in the majority of fetuses with trisomies 13 or 18 it was 4.5-8.4 mm, and in those with Turner syndrome it was 8.5 mm or more. Conclusion: In fetuses with increased nuchal translucency, approximately one half of the chromosomally abnormal group is affected by defects other than trisomy 21. The distribution of nuchal translucency is different for each type of chromosomal defect. Level Of Evidence: II-3. [ABSTRACT FROM AUTHOR]

In this study we investigated the fetal magnetocardiogram recordings (FMCG) in 64 women, 21-30 years old, with single normal pregnancies and gestational ages 28-40 weeks. Spectral analysis was used to quantify heart rate variability and to identify the maturation of the autonomic nervous system. According to our results, there was an increase of the ratio LF/HF of the power spectrum, which reflects the maturation of the autonomous nervous system and also an increase in heart rate variability in the course of pregnancies, which was statistically significant (ANOVA test, P < 0·0005) comparing the R-R intervals of the number of cases in the four groups of 28-30, 37-40, 31-33 and 37-40 weeks of gestation. This study highlights some of the advantages of FMCG as a novel, non-invasive technique for obtaining useful clinical information. [ABSTRACT FROM AUTHOR]

Objective: This study was undertaken to investigate the impact of incorporating assessment of the nasal bone into first-trimester combined screening by fetal nuchal translucency (NT) thickness and maternal serum biochemistry., Study Design: In this prospective combined screening study for trisomy 21, the fetal nasal bone was also examined and classified as present or absent. A multivariate approach was used to calculate patient-specific risks for trisomy 21 and the detection rate (DR) and false-positive rate (FPR) were estimated. We examined 2 screening strategies; first, integrated first-trimester screening in all patients and second, first-stage screening of all patients using fetal NT and maternal serum free beta-hCG and PAPP-A, followed by second-stage assessment of nasal bone only in those with an intermediate risk of 1 in 101 to 1 in 1000 after the first-stage., Results: The nasal bone was absent in 113 (0.6%) of the 20,165 chromosomally or phenotypically normal fetuses and in 87 (62.1%) of the 140 fetuses with trisomy 21. With combined first-trimester NT and serum screening, the DR of 90% was achieved at a FPR of 5%. Inclusion of the nasal bone, either in all cases or in about 10% of the total in the 2-stage approach, halved the FPR to 2.5%., Conclusion: Inclusion of the nasal bone in first-trimester combined screening for trisomy 21 achieves a DR of 90% for a FPR of 2.5%.

Background: Screening for trisomy 21 by a combination of maternal age, fetal nuchal translucency (NT) thickness and maternal serum free beta-hCG and pregnancy associated plasma protein-A (PAPP-A) at 11-13(+6) weeks of gestation is associated with a detection rate of 90%, for a false-positive rate of 5%. Recent evidence suggests that in about 70% of fetuses with trisomy 21 the nasal bone is not visible at the 11-13(+6) week scan and that the frequency of absence of nasal bone differs in different ethnic groups. In addition, there is a relationship between absent nasal bone and nuchal translucency thickness. In a preliminary study we showed that while PAPP-A levels were lower and free beta-hCG levels were higher in trisomy 21 fetuses with an absent nasal bone, this difference was not statistically different. In fetuses with trisomy 13 and trisomy 18, there is also a high (57 and 67%) incidence of an absent nasal bone. The aim of this present study was to extend our examination of whether the level of maternal serum biochemical markers is independent of the presence or absence of the nasal bone in cases with trisomy 21 and to ascertain if any differences exist in cases with trisomies 13 and 18., Methods: This study data comprised 100 trisomy 21 singleton pregnancies at 11-13(+6) weeks of gestation from our previous study and an additional 42 cases analysed as part of routine OSCAR screening. A total of 34 cases with trisomy 18 and 12 cases with trisomy 13 were also available. Ultrasound examination was carried out for measurement of fetal NT and assessment of the presence or absence of the fetal nasal bone. Maternal serum free beta-hCG and PAPP-A were measured using the Kryptor rapid random access immunoassay analyser (Brahms Diagnostica AG, Berlin). The distribution of maternal serum free beta-hCG and PAPP-A in chromosomally abnormal fetuses with absent and present nasal bone was examined., Results: The nasal bone was absent in 29 and present in 13 of the new trisomy 21 cases and in 98 (69%) and 44 respectively in the combined series. For the trisomy 18 cases, the nasal bone was absent in 19 (55.9%) cases and in 3 (25%) of cases of trisomy 13. There were no significant differences in median maternal age, median gestational age, NT delta, free beta-hCG MoM and PAPP-A MoM in trisomy 21 fetuses with and without a visible nasal bone, and similarly for those with trisomies 13 or 18. For a false-positive rate of 5%, it was estimated that screening with the four markers in combination with maternal age would be associated with a detection rate of 96% of cases with trisomy 21. For a false-positive rate of 0.5%, the detection rate was 88%., Conclusions: There is no relationship between an absent fetal nasal bone and the levels of maternal serum PAPP-A or free beta-hCG in cases with trisomies 13, 18 or 21. An integrated sonographic and biochemical test at 11-13(+6) weeks can potentially identify about 88% of trisomy 21 fetuses for a false-positive rate of 0.5%., (Copyright 2005 John Wiley & Sons, Ltd.)

Objective: The purpose of this study was to determine the ability of pregnant women to incorporate sophisticated screening information about risk assessment into their decisions about invasive testing in an appropriate way., Study Design: Assessment of risk for trisomy 21 was carried out by a combination of maternal age, fetal nuchal translucency (NT) thickness, and maternal serum free beta-human chorionic gonadotrophin (hCG) and pregnancy-associated plasma protein-A (PAPP-A) at 11 to 13+6 weeks. The patients were counseled with regards to their estimated risk, and were informed that the only way to know for sure whether or not the fetus has a chromosomal abnormality is by having an invasive test, but these tests carry a risk of miscarriage of about 1%. They were also informed that although a risk of 1 in 300 or more was generally considered to be high, it was up to them to decide in favor or against invasive testing., Results: Assessment of risk was carried out in 30,564 singleton pregnancies with live fetuses at 11 to 13+6. The median maternal age was 34 (range 15-49) years and, in 14,816 (48.5%), the age was 35 years or greater. The rate of invasive testing increased exponentially with increasing estimated risk (r = 0.917, P < .0001). The estimated risk for trisomy 21 was 1 in 300 or more in 2565 (8.4%) women, and 1991 (77.6%) of these had invasive testing. The risk was less than 1 in 300 in 27,999 (91.6%) women, and 1286 (4.6%) of these had invasive testing., Conclusion: Pregnant women are able to use sophisticated screening information to make scientifically and ethically rational decisions about invasive testing for trisomy 21. These empiric data compliment the arguments of normative ethics to create evidence-based ethical standards for informed consent regarding invasive testing.

Objective: This study was undertaken to evaluate the performance of a 1-stop clinic for first-trimester assessment of risk (OSCAR) for trisomy 21 by a combination of maternal age, fetal nuchal translucency (NT) thickness, and maternal serum-free ss- human chorionic gonadotrophin (hCG) and pregnancy-associated plasma protein-A (PAPP-A)., Study Design: OSCAR was carried out in 30,564 pregnancies at 11 to 13 + 6 weeks. Patient-specific risks for trisomy 21 and detection and false-positive rates were calculated., Results: The median maternal age was 34 (range 15-49) years. Chromosomal abnormalities were identified in 330 pregnancies, including 196 cases of trisomy 21. The estimated risk for trisomy 21 was 1 in 300 or greater in 7.5% of the normal pregnancies, in 93.4% of those with trisomy 21 and in 88.8% of those with other chromosomal defects., Conclusion: The most effective method of screening for chromosomal defects is by first-trimester fetal NT and maternal serum biochemistry.

Personal experience in the treatment of a female patient presenting a pure monolobar Caroli's disease, is described. The woman was asymptomatic so far; during the last 2 weeks she was admitted on 3 occasions with repeated attacks of cholangitis and obstructive jaundice. Surgery was performed for relief of the jaundice. A diagnosis of segmental Caroli's disease (congenital dilatation of intrahepatic bile ducts) with congenital fibrosis was made on the basis of marked fibrous septa with the characteristic ductal plate formation on left hepatectomy specimen and the cysts seen on ultrasound.

Anatomic gynecologic anomalies, including congenital absence of the uterus, occur with surprising frequency in referral practice of reproductive endocrinology and reproductive surgery. Female individuals with uterus agenesis have normal external genitalia and, therefore, the diagnosis is rarely made in infancy. We report a case of congenital absence of the uterus in a young woman 25 years old, presenting with primary amenorrhea. The patient had a normal karyotype and normal secondary sex characteristics. Sex hormones were within normal limits, indicating normal function of the hypothalamic-pituitary-ovarian axis. The diagnosis was set by bimanual gynecologic examination, which was followed by vaginal ultrasound examination. The patient underwent a laparoscopic investigation, which revealed the absence of the uterus and the presence of small rudimentary uterine horns, connected to normal fallopian tubes. Ovarian morphology was bilaterally normal. In conclusion we believe that every patient with genital tract abnormalities has to be dealt with individually, depending on the patient's anatomy, desires and age.

Purpose: We performed a prospective study of neonatal brain function on 44 respective term neonates who were delivered normally, without any clinical signs of brain damage. Thirty were associated with a normal pregnancy and labor with normal values of Apgar scores, umbilical cord pH and birth weight, while 14 neonates were the result of pre-eclamptic pregnancy., Methods-Results: Biomagnetic measurements were performed by means of a Superconducting Quantum Interference Device (SQUID) in an electrically shielded room of low magnetic noise. Biomagnetic signals (waveforms) recorded from neonatal brains in the frequency range of 2-7 Hz were expressed in terms of magnetic power spectral amplitudes. These were low (mean value 163.2, SD 22.57) in almost all neonates from the "normal pregnancy" group, while they were high (mean value 211.6, SD 37.74) in most neonates from the "pre-eclamptic" group. The difference between the two groups was statistically significant (Student's t-test, p < 0.005)., Conclusion: A statistically significant difference in spectral amplitudes of neonatal brain activity was observed between normal term neonates and the pre-eclamptic neonates. Biomagnetic measurements of neonatal brain activity could provide clinical practice with a promising procedure for assessing brain function.

Aim: This study was designed to investigate the hemodynamics of the uteroplacental circulation in normal and pre-eclamptic pregnancies using the biomagnetometer SQUID., Method: Twenty-two pregnancies complicated by pre-eclampsia and 49 normal pregnancies were included in this study. All were near term. Biomagnetic signals were recorded from the uterine arteries. After statistical Fourier analysis, the findings were designated in terms of spectral amplitudes as high (140-300 fT/square root of Hz), low (50-110 fT/square root of Hz) and borderline (111-139 fT/square root of Hz)., Results: The uterine artery waveforms and the corresponding spectral densities were of high amplitudes in most (89.7%) normal pregnancies and of low amplitudes in most (81.8%) pregnancies complicated by pre-eclampsia (p < 0.005). These findings were of statistical significance and were correlated with fetal heart rate (FHR) monitoring, pH, Apgar score at 1 and 5 minutes and birth weight percentiles: high amplitude cases were related with normal FHR patterns, pH > 7.25, Apgar score > 7 and birth weight > 75th percentile, while low amplitude recordings were connected with abnormal FHR patterns, pH < 7.25, Apgar score < 7, and birth weight < 10th percentile (8 cases) and < 50th percentile (10 cases)., Conclusion: Biomagnetic measurement of the uterine artery flow, is a promising procedure in assessing fetal health, especially in high-risk pregnancies.

Purpose: In the present study we describe the epidemiologic characteristics of breast cancer in relation to certain risk factors affecting the two major ethnic groups (Christian Orthodox and Muslims) in the area of Thrace, Greece., Method: We performed a cross-sectional study of 196 consecutive patients, aged 28-85 years, with breast cancer, who were referred to our clinic for treatment from January 1986 to June 1998. All patients were submitted to clinical, laboratory and mammographic control. Ultrasound examination and aspiration cytology were performed on cystic-like lesions. Epidemiologic characteristics of the patients were abstracted from medical charts. To evaluate the results, we used the direct standardization method (1995 Eur. Population) and chi2 test., Results: Breast cancer incidence for the two study populations (Christian Orthodox and Muslims) was 20.9 and 2.3/100,000, respectively. We did not notice statistically significant differences in most epidemiologic characteristics between the two subject groups., Conclusions: Although the cumulative breast cancer incidence in Thrace, Greece is comparatively low, the discrepancy observed in the incidence of Christian Orthodox and Muslims suggests that differences in lifestyle between these two ethnic groups might be determinant factors influencing the prevalence of the disease. The appearance of the disease in a considerable number of young and elderly women, make the extension of modern screening methods in the above-mentioned age groups necessary for the improvement of breast cancer prevention and incidence rates.