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Biomedical subjects

S Tercanli

Publications and source records attributed to S Tercanli.

At least 19 recordsLinked to original sources

[Recent advances in prenatal diagnostics].

During the last years, technical improvements have increased the possibilities in prenatal ultrasound. During the eighties and nineties, fetal malformations were increasingly detected and specified. Since a few years, the measurement of the fetal nuchal translucency between 11 and 14 weeks of gestation has been implemented to calculate the individual risk, in combination with most recent biochemical markers. Today, the sonographic measurement of the nuchal translucency is regarded as a valuable screening tool for chromosomal anomalies in prenatal medicine. Beside standardized examinations, a profound information and counseling of the pregnant women should be emphasized. With the improvement of the specific maternal risk calculation, using the sonographic measurement of the nuchal translucency, the biochemical markers and the maternal age, unnecessary invasive examinations may be prevented and their overall number can significantly be reduced. The same trend is seen in the whole field of prenatal medicine, illustrated by the detection of the fetal rhesus D status from the maternal blood and the use of Doppler ultrasound in the management of fetal anemia.

Fetal Diseases↗

[Sonographic first trimester screening in Switzerland].

The sonographic measurement of the nuchal translucency is already regarded as the most valuable screening parameter for chromosomal anomalies. Beside standardised examinations profound information and counselling of the pregnant women should be emphasised. With the improvement of the specific maternal risk calculation using the sonographic measurement of the nuchal translucency, the biochemical markers and the maternal age, unnecessary invasive examinations may be prevented and their overall number can be reduced significantly.

Chromosome Aberrations↗

[Ultrasound in pregnancy--practical aspects].

According to the payments agreement of the health insurance law two screening-scans at 10-13 weeks and 20-23 weeks respectively are part of the low-risk pregnancy care. The first-trimestre-scan includes the determination of the gestational age, the anatomical integrity of the fetus and the chorionicity in case of monochorionic twins. The 20-23 week scan has to evaluate the fetal growth, fetal abnormalities and the placental site. Doppler sonography is reserved for high risk pregnancies, especially for hypertensive disorders and fetal growth retardation, for the evaluation of fetal anemia in case of blood group alloimmunisation and for the detection of the twin-twin-transfusion syndrome in monochorionic twins.

Female↗

Lost intrauterine devices during pregnancy: maternal and fetal outcome after ultrasound-guided extraction. An analysis of 82 cases.

OBJECTIVES: It is generally agreed that intrauterine devices (IUDs) with visible strings in pregnancy should be removed because of the increased risk of miscarriage, septic complications and premature delivery. The precise management of pregnancies in association with so-called 'lost IUDs', and especially the technique of their removal, has remained controversial. We present our experience of the management of intrauterine pregnancies with a lost IUD. METHODS: Ultrasound-guided extraction of a lost IUD was performed in 82 intrauterine pregnancies. The subsequent outcome of the pregnancies is described. RESULTS: There were no intra- or post-procedure maternal complications. Although the miscarriage rate in the first 3 weeks after the procedure was higher than that in normal pregnancy, the complication rate approached that of normal pregnancy as the pregnancies progressed. The total miscarriage rate of 22% was comparable to that following extraction of IUDs with visible filaments. The rate of live births was 77.0%. Delivery before 37 weeks occurred in 13.5% of cases. CONCLUSIONS: Ultrasound-guided extraction is a minimally invasive and inexpensive procedure that is associated with few postoperative complications. It has a high success rate and is associated with a moderate miscarriage rate and no maternal complications.

Abortion, Spontaneous↗

Comparison of pregnancy outcome of euploid fetuses with increased nuchal translucency (NT) expressed in NT MoM or delta-NT.

OBJECTIVE: To evaluate the outcome of euploid fetuses with increased nuchal translucency thickness (NT) expressed in multiples of the median (MoM) or delta-NT. METHODS: Included in the study were euploid fetuses with increased NT >or= 95(th) centile, for which information about pregnancy outcome was available. The following parameters were defined as an adverse outcome: miscarriage, structural anomalies justifying termination of pregnancy, and structural anomalies, genetic syndromes and neurodevelopmental problems diagnosed postnatally. Fetal outcome according to NT MoM and delta-NT was calculated using different cut-off values. Calculations of the odds ratio for adverse outcome were performed using either NT MoM or delta-NT as a predictor in logistic regression models. RESULTS: The study comprised 168 euploid fetuses. Of these, 38 (23%) had an adverse outcome: 11 (6%) had miscarriages, 14 (8%) were terminated because of fetal abnormalities detected on the prenatal scan and 13 (7%) were found postnatally to have abnormalities. The incidence of cases exhibiting an adverse outcome was 5.3%, 19.2% and 58.5% for NT values of 1.6-1.9, 2.0-3.0 and >3.0 MoM, respectively (P < 0.0001, chi(2) test), and 3.9%, 16.7% and 62.8% for delta-NT values of 1.0-1.4, 1.5-2.5 and >2.5 mm, respectively (P < 0.0001, chi(2) test). Using cut-offs of 2.0 MoM and delta-NT of 1.5 mm, the odds ratios for adverse outcome were 10.2 (95% CI, 3.4-30.4) and 15.4 (95% CI, 4.2-43.6), respectively. CONCLUSION: Both the NT MoM and delta-NT approaches may be used to determine cases which require additional antenatal investigation as well as fetal karyotyping. For this purpose we suggest using a cut-off of either 2.0 MoM or a delta-NT of 1.5 mm.

Abortion, Spontaneous↗

Umbilical cord edema associated with patent urachus.

Umbilical cord anomalies can often be detected prenatally by ultrasound, but a definitive prenatal diagnosis is not always possible. We present a case with increasing edema of the Wharton's jelly followed by the development of pseudocysts in the proximal umbilical cord due to a patent urachus. The first abnormal findings were detected by ultrasound in the 14th week of gestation. Differential diagnoses and their influence on surveillance and birth management are discussed.

Adult↗

Charts for cervical length in singleton pregnancy.

OBJECTIVES: To construct charts for cervical length in a low risk population measured by transvaginal ultrasonography. METHODS: Pregnant women of an apparently normal population were seen in the ultrasound division of the University Women's Hospital Basel between 20 and 34 weeks of gestation and underwent once (one measurement per subject) a transvaginal ultrasound measurement of the cervix under standardized conditions. In order to establish normal values of the cervical length, finally only women who delivered spontaneously at term (>37 weeks of gestation) remained in the study. Exclusion criteria were preterm labor, multiple pregnancies, cerclage or surgical intervention prior to pregnancy. For statistical evaluation, regression analysis and calculation of 5th and 95th percentiles were performed. RESULTS: A total of 669 cervical measurements were recorded. The number of measurements differed from 22 measurements at 23 weeks of gestation to 86 at 31 weeks of gestation. Cervical length gradually and significantly decreased as the gestational age progressed (between 20 and 34 weeks of gestation). New charts with the 5th, 50th and 95th percentile are presented and compared with previously published data. CONCLUSIONS: Our charts for cervical length in a limited risk population can be used for observing patients at high risk of preterm delivery and for clearly identifying a significant deviation or decline in the percentile for these subjects.

Adult↗

[Genetic testing in pregnancy].

First trimester risk screening is probably the major methodological advance in identifying pregnancies at increased risk for genetic disease during recent years with an impact on all pregnancies. The high detection rate with moderate false positive rates will reduce the over-all number of invasive procedures as compared to the traditional approach based on maternal age exclusively, in particular considering the demographic shift towards higher mean maternal age. Non-invasive prenatal diagnosis from fetal cells or DNA in the maternal circulation remains an experimental approach, despite a growing number of reports on successful diagnoses of single gene disorders. In the lab molecular cytogenetic approaches have considerably broadened the diagnostic spectrum of conventional karyotyping and facilitated a rapid diagnosis of selected frequent aneuploidies. Molecular genetic testing, in particular on chorionic villi, allows an early and reliable diagnosis of a growing number of severe monogenic conditions. A restrictive legislation has hampered the development of preimplantation genetic diagnosis in German speaking countries, only a few groups work on polar body diagnosis, a legal but restricted alternative.

Adult↗

[Pregnancy outcome in 1,252 fetuses after nuchal translucency measurement in the 1st trimester].

The measurement of the nuchal translucency is an important marker to detect a vast number of fetal anomalies. Lately the nuchal translucency has been used increasingly as a screening method to find chromosomal anomalies especially for trisomy 21. Beside a high incidence of chromosomal defects one assumes a high risk of rare syndromes and other associated anomalies such as heart defects, skeletal anomalies, cerebral anomalies, diaphragmatic hernias, as well as of an intrauterine death. In view of abortion rate, detection rate of chromosomal anomalies, other fetal anomalies and rare syndromes we evaluated in this study the pregnancy outcome after nuchal translucency measurement, and discuss a concept for its management.

Chromosome Aberrations↗

Prenatal diagnosis of an infratentorial subdural hemorrhage: case report.

We report a case of a prenatally diagnosed infratentorial subdural hemorrhage. The hematoma located in the posterior cerebral fossa was detected by conventional ultrasound at 24 weeks of gestation. Intrauterine magnetic resonance imaging confirmed the diagnosis. Autopsy of the fetus revealed a well-circumscribed subdural hematoma. The prenatal findings of intracranial bleeding located in the posterior fossa and the prognosis of such cases are discussed.

Adult↗

Split hand and foot malformation: ultrasound detection in the first trimester.

The split hand split foot malformation is a rare disorder inherited in an autosomal dominant pattern with variable expression. In our case it was detected early by ultrasound in the twelfth week of gestation. To our knowledge, this is the earliest finding by ultrasound of this malformation. The sonographic findings were bilateral split hands and split foot. No other associated malformation was observed. The pathological findings were consistent with the diagnosis of split hand split foot malformation. Prenatal diagnosis, the genetic background, and the differential diagnosis are discussed.

Diagnosis, Differential↗

Bedside estimation of Down syndrome risk during first-trimester ultrasound screening.

OBJECTIVE: To construct tables for 'bedside' estimation of Down syndrome risk based on maternal age and nuchal translucency measurements. METHODS: Likelihood ratios were calculated using the log multiple of median Gaussian model. The parameters for the model (mean and standard deviation) were derived from 5560 normal and 51 Down syndrome-affected pregnancies scanned during the first trimester in three different centers. Equations for calculating maternal background risk and median values were obtained from previous reports. The results were compared to two modalities using the log Gaussian model and software that uses the delta-value model. RESULTS: The distribution fitted the data well, and the parameters obtained in the study group for the log multiple of median model were a mean of 0 and a standard deviation of 0.12356 among normal pregnancies and a mean of 0.305312 and a standard deviation of 0.240337 among Down syndrome-affected ones. The likelihood ratios obtained for the various combinations of fetal crown-rump lengths and nuchal translucency measurements were comparable to other modalities reported earlier. CONCLUSIONS: The results of the current study provide useful tables for simple and accurate 'bedside' estimation of Down syndrome risk without the need for computerized software or complicated calculations.

Crown-Rump Length↗

[Screening for aneuploidy by first trimester nuchal translucency measurement: results from a prospective trial including 1980 cases in a single center in Switzerland].

AIM: The purpose of this study was to evaluate the efficiency of first trimester screening for chromosomal abnormalities using the sonographically determined thickness of nuchal translucency (NT) combined with maternal age. PATIENTS AND METHODS: Risk screening was offered to all patients with a fetal crown rump length (CRL) between 45 and 84 mm after extensive counselling. For the risk assessment the software provided by the Fetal Medicine Foundation was used. In accordance with the recommendation of the Swiss Working Group on First Trimester Screening a cut-off risk of 1 : 400 was chosen. RESULTS: A total of 1980 consecutive pregnancies participating in the risk screening programme with due dates prior to May 1, 2001 were included. Mean maternal age was 30.1 yrs and 522 (26.4 %) patients were 35 yrs or older. A positive risk screening result was obtained in a total of 219 (11.1 %) pregnancies including 33 of the 37 (1.9 %) cases with unbalanced chromosomal abnormalities. CONCLUSIONS: The detection rate for unbalanced chromosome abnormalities in general (89.2 %) as well as the one for trisomy 21 (93.3 %) in particular are very high with a moderate false-positive rate (9.6 %) in this series. As a comparison in the series presented here, traditional "maternal age screening" (cut-off age 35 yrs) would have yielded detection rates of 64.9 % for all unbalanced chromosome abnormalities and 73.3 % for trisomy 21 at a false-positive rate of 25.0 %. Reducing the false-positive rate by raising the cut-off age to 38 yrs would yield detection rates of 40.5 % for all unbalanced chromosome abnormalities and 46.7 % for trisomy 21 at a false-positive rate of 8.9 %. The number of invasive procedures performed to detect one unbalanced chromosome count may be calculated as 21.75 using the cut-off age of 35 yrs as compared to 6.4 using NT measurement and maternal age. The outcome of this ongoing study is in good accordance with the earlier observation that the main benefit of the addition of first trimester NT measurements to the risk screening protocol is a very high detection rate at a moderate false-positive rate.

Adult↗

[Ultrasound indications of fetal chromosome abnormalities in the 2nd trimester].

The most common fetal chromosomal disorders have structural abnormalities, which can be detected during second trimester ultrasound examination. Major malformations, also known as hardmarkers, when single or in combination, should raise the suspicion for a specific syndrome. But it is known, that even more subtile findings can increase the background risk based on the maternal age, especially for Down syndrome. A combination of these so called "soft-markers" can be used for second trimester screening in a high and low risk population. Here were report on the sonographic features of the common chromosomal anomalies and their significance in prenatal diagnosis.

Adult↗

Spontaneous fetal loss rates in a non-selected population.

The objective of this work was to determine the rate of spontaneous fetal loss up to 28 weeks of gestation in uncomplicated pregnancies of a low-risk population after sonographically identified intact intrauterine pregnancy during the first trimester. Transvaginal ultrasounds were given to 2,534 women at between six and 12 weeks of gestation. Inclusion criteria were a positive fetal cardiac activity and no antecedent signs of vaginal bleeding. Gestational age was confirmed by measurement of the crown-rump length and/or biparietal diameter (BIP). Patients were followed until delivery or up to a fetal loss. The mean fetal loss rate between 12 and 28 weeks was 3.86% (n = 99). Fetal loss increased with maternal age: fetal loss rate under 20 yr: 2.94% (OR 0.75; CI 0.23-2. 46), 20-24 yr: 3.20% (OR 0.77; CI 0.48-1.23), 25-29 yr: 3.39% (OR 0.77; CI 0.50-1.19), 30-34 yr: 3.89% (OR 1.01; CI 0.59-1.71), 35-39 yr: 7.82% (OR 2.13; CI 1.04-4.32), 40-45 y: 50% (OR 13.84; CI 6.67-28.72) and > 45 yr: 50% (OR 13.05; CI 1.96-86.71) respectively. The frequency of spontaneous fetal loss before 28 weeks gestation was assessed systematically in a low-risk population. There was a very clear correlation with advancing maternal age. These data now can be used as background loss rate information for evaluating the safety of invasive prenatal diagnosis, and they will be more valid for this purpose than the available data taken from selected cohorts of women, such as those from hospital clinics or from infertility programs.

Adolescent↗

Myomectomy during the first trimester associated with fetal limb anomalies and hydrocephalus in a twin pregnancy.

OBJECTIVES: To present the complications of a twin pregnancy after first trimester myomectomy and to discuss the possible etiologic relationship. CASE REPORT: A 44-year-old primigravida with a dichorionic-diamniotic twin pregnancy underwent myomectomy in another hospital at 12 weeks' gestational age. At 28 weeks the patient was referred to our unit because of ventriculomegaly and limb anomalies in the second twin. The patient underwent a Caesarean section at 37 weeks of gestation delivering twin A, a healthy female weighing 3235 g and twin B, a female weighing 2810 g with hydrocephalus and limb anomalies (clubfeet and hypoplasia of the nails and terminal phalanges). The placenta from twin A was normal, but in the placenta of twin B haemorrhage, thrombosis and infarction were noted. CONCLUSIONS: Despite several reports of myomectomy in pregnancy without any problems for mother and fetus, the authors believe that myomectomy - especially in the first trimester - may be associated with the type of problems observed in the present case. The pathophysiological relationship between placental trauma and haemodynamic alterations as a possible cause of the malformations in twin B is discussed.

Adult↗

Screening for trisomy 21 by fetal nuchal translucency and maternal age: a multicenter project in Germany, Austria and Switzerland.

OBJECTIVE: To examine the effectiveness of screening for trisomy 21 by a combination of maternal age and fetal nuchal translucency thickness at 10-14 weeks of gestation in Germany, Austria and Switzerland. METHODS: This was a multicenter study of screening for trisomy 21 by a combination of maternal age and fetal nuchal translucency thickness at 10-14 weeks of gestation. All the sonographers involved in the study had received The Fetal Medicine Foundation Certificate of Competence in the 10-14-week scan. Fetal nuchal translucency thickness and crown-rump length were measured in 23 805 singleton pregnancies with live fetuses. In each case the risk for trisomy 21 was estimated on the basis of maternal age and fetal nuchal translucency thickness for crown-rump length with the use of The Fetal Medicine Foundation's software. The distribution of estimated risk was determined and the sensitivity and false-positive rate for a risk cut-off of 1 in 300 was calculated. RESULTS: Fetal nuchal translucency thickness was successfully measured in all 23 805 pregnancies and outcome was available in 21 959. The median maternal age was 33 (range 15-49) years and in 7935 (36.1%) the age was 35 years or greater. The median gestation at screening was 12 (10-14) weeks and the median fetal crown-rump length was 61 (range 38-84) mm. The estimated risk for trisomy 21 based on maternal age and fetal nuchal translucency thickness for crown-rump length was 1 in 300 or greater in 13.0% (2800 of 21 475) normal pregnancies, in 87.6% (184 of 210) of those with trisomy 21 and in 87.2% (239 of 274) with other chromosomal defects. CONCLUSIONS: In Germany, Austria and Switzerland the results of screening for chromosomal defects by measurement of fetal nuchal translucency thickness, in centers with appropriately qualified sonographers and using The Fetal Medicine Foundation's software, are similar to those reported in the UK using the same methodology.

Austria↗