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Biomedical subjects

S Tercanli

Publications and source records attributed to S Tercanli.

54 records · Page 3Linked to original sources
PubMed1995

[Prenatal diagnosis].

A growing number of methods for the in-utero diagnosis of fetal disease became available during recent decades, mainly due to rapid advances in ultrasound technology and laboratory methods. Exclusion of fetal aneuploidy in pregnancies of women beyond 34 years is still by far the most common reason for an invasive procedure event at a time when the number of diagnosable inborn errors of metabolism and monogenetic disorders is increasing rapidly. Great efforts have been made to improve the poor predictive value of maternal age as an indicator for an increased risk for fetal aneuploidy. Maternal serum screening using various parameters [e.g. AFP, hCG, uE3] has been found effective in identifying the majority of pregnancies with Down syndrome in the second trimester. Current research goals are the optimal choice of markers and the introduction of maternal serum screening in the first trimester of pregnancy. Ultrasound is another suitable tool to identify pregnancies at high risk for aneuploidy at least in the hands of experienced operators. The diagnostic use of fetal cells in the maternal circulation is presently investigated in a large collaborative trial. Second trimester amniocentesis still is the most widely applied invasive technique in pregnancies with maternal age related risks for fetal aneuploidy. Safety and diagnostic accuracy are well established and amniotic fluid can easily be shipped. Without major changes in conventional sampling and laboratory techniques the procedure can be performed at 13 weeks of gestation and later. The safety and efficacy of first-trimester amniocentesis has still to be established in larger series. First-trimester chorionic villus sampling is a well-established alternative to amniocentesis with comparable procedure-related risks. It is the method of first choice in pregnancies at high risk for aneuploidy, inborn errors of metabolism and monogenic disorders, since uncultured villi can be used for a rapid diagnosis. Placental biopsy should also be considered in the second and third trimester of pregnancy for these indications whenever time is a critical issue. Fetal blood obtained by ultrasound-guided cordocentesis has successfully been used for the diagnosis of fetal infection and is at the same time another good source of cells for rapid karyotyping. Other invasive procedures such as fetal skin or liver biopsies for electron microscopy or specific metabolic tests are restricted to the relatively rare instances of diseases where DNA diagnosis is currently not available or uninformative. Providing information on the different alternatives in an individual situation is one of the critical issues in pregnancy care today.

Amniocentesis↗
PubMed1994

[Possibilities for modifying risk factors for chromosome abnormalities--advantages of the so-called "triple" marker studies in comparison with pure "maternal age screening"].

We have offered the so-called "triple-marker screening" since May 1991 to all patients who came for prenatal care and did not select an invasive procedure primarily. First evaluation of 5210 cases revealed that 3.7% were test-positive for neural tube defects, 13.8% for Down's syndrome and 0.5% for both at the same time. The explanation for the comparatively high "test-positive" rate of 13.5% is the maternal age distribution with the median at 31.4 years. The highest number of women selecting triple-marker determinations was in the age group of 35 years. We detected 16 cases of Down's syndrome and in this group the majority of women was below 35 years. The decision of women to have an invasive procedure was obviously very much influenced by the actual risk assessment, because amniocentesis was chosen by 72/85 (84.8%) of women with a risk of more than 1:50, 192/290 (66.2%) of women in the risk category of 1:51 to 1:200 and 182/333 (54.6%) in the risk category of 1:201 to 1:400. The follow-up is not yet complete, but there is already good evidence for the efficiency of the screening program. Triple-marker screening also proved predictive in 10 cases of trisomy 18 and 8 cases of triploidy in this series. As a cut-off value we chose the risk of 1:386 which is equivalent to the odds of a 35 year old to have a child with Down's syndrome at birth.(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗
PubMed1991

Mosaicism and accuracy of prenatal cytogenetic diagnoses after chorionic villus sampling and placental biopsies.

Discrepant chromosome findings in placenta and fetus (false negative and false positive) after chorionic villus sampling (CVS) are mainly due to confined mosaicism. Non-mosaic normal or abnormal chromosome counts after direct preparation and culture nearly always correctly reflect the fetal chromosome constitution. False-negative results have almost exclusively been restricted to cytotrophoblast cells not representing a fetal chromosome abnormality. Diagnosis of placental mosaicism definitely requires an adequate follow-up by amniocentesis, fetal blood sampling, or sonography before a pregnancy is terminated. When direct preparations and cultured cells are used for cytogenetic diagnoses and placental mosaicism is not taken as proof for a chromosomal abnormality in the fetus, CVS is an accurate diagnostic tool.

Amniocentesis↗
PubMed1991

[Ultrasound studies in early pregnancy].

An ultrasound evaluation of the pregnancy in the first trimester is very helpful because no other method can better answer questions about the viability of the embryo, the true gestational age, the presence of an ectopic pregnancy and developmental anomalies at this early stage. Especially the introduction of vaginal sonography meant considerable progress in this area. Now there are normal growth curves available based on longitudinal measurements for the yolk sac, the amniotic and chorionic cavity and the crown-rump length. Significant deviations from these normal curves are suggestive of genetic anomalies of the developing child. Of these anomalies, detectable in the first trimester, especially the nuchal edema is associated with a high rate of chromosomal abnormalities. The fact that the gestational age can better be determined in the first trimester than in the later course of pregnancy is a strong argument for the introduction of routine ultrasound screening within the first twelve weeks of pregnancy.

Abortion, Threatened↗
PubMed1991

[Prenatal chromosome findings in sonographically conspicuous fetuses].

A retrospective evaluation of 463 prenatal chromosome analyses in a total of 375 patients with suspicious ultrasound findings, revealed a high rate of severe chromosomal abnormalities (16%). The highest risk for an abnormal karyotype was found after sonographic detection of hygroma colli. Abnormal chromosome counts were also frequently found in fetuses with omphaloceles, duodenal atresia and hydrops fetalis, as well as in presence of intrauterine growth retardation and/or anomalies of the amniotic fluid volume. The anomalies mentioned above are, therefore, an urgent indication for a prenatal chromosome analysis. The technical improvements of ultrasound machines and growing experience of operators will lead to an increasing importance of sonography as a method for the identification of pregnancies, that are at high risk for chromosomal abnormalities.

Adolescent↗
PubMed1991

[Prenatal diagnosis with chorionic villi and placenta puncture biopsy in the 1st to 3d trimester of pregnancy: diagnostic value of chromosome studies].

Chorionic villus sampling and placental biopsies became established diagnostic alternatives to amniocentesis worldwide during the 80's. Safety and accuracy are the most important criteria for the evaluation of these newer techniques as compared to amniocentesis. We report on our experience with more than 3400 chromosome analyses between 1985 and 1990 from first to third trimester of pregnancy in a single centre. Most obvious is the higher frequency of mosaicism, which is often, but not always confined to the placenta. Mosaicism accounts for the overwhelming majority of all discrepant (so-called false negative or false positive) cytogenetic findings. The most important prerequisites for diagnostic accuracy of chromosome analyses are meticulous separation of villi immediately after the sampling procedure as well as simultaneous use of direct preparation and cell culture. If mosaicism is not taken as sound evidence for foetal aneuploidy, the accuracy of cytogenetic diagnoses after chorionic villus sampling and placental biopsies is in the same range as the one after amniocentesis.

Adult↗
PubMedDate not supplied

[Prenatal diagnosis and management in VACTERL association].

In terms of the VACTERL-Association we are dealing with a non-random association of malformations following a defect during mesodermal development of embryogenesis due to a variety of causes. We report on three cases with VACTERL-type malformations diagnosed by prenatal ultrasound presenting cardial defects, renal abnormalities, single umbilical arteries and esophageal stenosis. We present sonographical, clinical and autopsy findings and discuss the pathogenesis of VACTERL-Association as a defect of mesenchymal development in early embryogenesis.

Abnormalities, Multiple↗
PubMedDate not supplied

Increased nuchal translucency in a case of long-chain 3-hydroxyacyl- coenzyme A dehydrogenase deficiency.

We present a case where the embryo showed an increased nuchal edema and a metabolic disorder. At 31 weeks of gestation the fetus developed a cardiomegaly and a hydrops. In this case, a long-chain 3-hydroxacyl-coenzyme A dehydrogenase deficiency (LCHAD deficiency) was confirmed by biochemical investigations in cultured chorionic villus cells and by DNA analysis. This metabolic disease causes a reduced production of mitochondrial trifunctional proteins and is a very rare autosomal-recessive disease.

3-Hydroxyacyl CoA Dehydrogenases↗
PubMedDate not supplied

Large placental chorioangioma as a cause of sudden intrauterine fetal death. A case report.

A giant placental chorioangioma was diagnosed in a fetus at 22 weeks of gestation by prenatal ultrasound screening and color Doppler imaging. Although no signs of fetal hydrops and cardiac decompensation were observed, the situation of the fetus deteriorated rapidly and in utero fetal death occurred at 26 weeks, attributed to bleeding from ruptured sinusoids within the tumor. Prenatal diagnosis of chorioangioma and treatment modalities are discussed.

Adult↗
PubMedDate not supplied

[Epilepsy and pregnancy].

One out of 200 pregnant women suffers from epilepsy. Pregnancy and epileptic disease or its medical treatment, respectively, do interfere, as on the one hand serum concentration of antiepileptic drugs can severely be altered during pregnancy. On the other hand these drugs cause a fetal malformation rate 2-3 times higher than in an average population. These facts demand an interdisciplinary cooperation between neurologists, pediatricians and obstetricians. Preconceptional advice should lead to a preventive folic acid medication and information about the higher risk for preterm delivery, intrauterine growth retardation or fetal death as sequelae of epileptic attacks. In antepartal investigations the emphasis should be on the sonographic diagnosis of fetal malformations and on regular control of serum concentration of antiepileptic drugs. During labor a tight fetal monitoring is obligatory. There is no indication for a primary cesarean section. The risk of neonatal hemorrhage due to a lack of vitamin K is reduced by prophylactic medication. Under optimal conditions about 90% of pregnancies and deliveries will be uncomplicated. During puerperium serum levels of antiepileptics should be controlled again. Breastfeeding is possible.

Abnormalities, Drug-Induced↗
PubMedDate not supplied

[Manifestations and prognosis of congenital diaphragmatic hernia].

We conducted a retrospective examination of the data of 36 patients with congenital diaphragm defects detected at an early stage or even before birth. The course of pregnancy, pregnancy risks, prenatal findings, mode of delivery, clinical parameters, prenatal, perinatal and postnatal procedures, findings at surgery and surgical therapy were analyzed with respect to the patients' outcome. The following factors were seen to influence the prognosis: associated anomalies, prenatal diagnosis, maturity for age, weight, Apgar score, the size of the defect and the extent of the pulmonary hypoplasia (and--linked to this--the patient's cardiorespiratory condition prior to surgery), and possibly sex. The mortality of patients surviving until surgery became possible was 28%. Our standard procedure in case of diaphragm defects known before birth is primary intubation before the child's first spontaneous breath. We also consider the practice of delaying surgery until stabilization has been achieved and especially in the incubator on the ward the course of action with the fewest complications at present from the patient's point of view.

Abnormalities, Multiple↗