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G Bernaschek

Publications and source records attributed to G Bernaschek.

At least 37 records · Page 2Linked to original sources
PubMed2001

Prenatal diagnosis of a de novo supernumerary marker derived from chromosome 16.

Marker chromosomes are supernumerary chromosomes of unknown origin and are seldom found in prenatal diagnosis. Application of fluorescent in situ hybridization (FISH) allows the identification of the chromosomal origin of markers. Estimation of the risk of an abnormal phenotype outcome can be enabled by collecting data on phenotypes associated with markers of the same chromosomal origin. So far only very few cases of prenatal diagnosis of de novo supernumerary markers derived from chromosome 16 have been reported. Here the prenatal diagnosis of a de novo supernumerary marker chromosome 16 is described and the relevant literature discussed.

Abortion, Induced↗
PubMed2001

Limb-body wall complex: a compound anomaly pattern in body-wall defects.

Our presentation of four cases demonstrates the essential features of limb-body wall complex (LBWC), representing a compound anomaly pattern in body-wall defects. The diagnosis of this entity is based on two of the three following characteristics: (1) exencephaly/encephalocele and facial clefts; (2) thoraco- and/or abdominoschisis; and (3) limb defects. A definite association with internal anomalies and severe kyphoscoliosis makes a more distinct concept of the pathogenesis reasonable. Limb-body wall malformations result from a malfunction of the ectodermal placodes involving the early embryonic folding process. The poor prognosis of LBWC calls for early antenatal diagnosis.

Abdominal Muscles↗
PubMed2001

High levels of reticulated platelets and thrombopoietin characterize fetal thrombopoiesis.

To characterize fetal thrombopoiesis, we determined plasma thrombopoietin (TPO) and glycocalicin levels, platelet counts and reticulated platelets (RP) of fetuses and compared them with the respective values of their mothers. Percutaneous umbilical vein sampling in abnormal pregnancies revealed twofold higher thrombopoietin levels and 20-fold higher reticulated platelet counts, but lower levels of glycocalicin in fetuses compared with their mothers (P < 0.05). Neither the expression of platelet glycoprotein Ib and IIb on platelets nor the platelet counts were different between mothers and their fetuses. These data indicate enhanced thrombopoiesis and/or increased platelet turnover in fetuses.

Adult↗
PubMed2001

Influence of acupuncture on Doppler ultrasound in pregnant women.

OBJECTIVE: To evaluate the influence of acupuncture on the blood flow in the umbilical artery (UA), fetal aorta and uterine artery and on the fetal heart rate using two different acupuncture points (SP-6 (Sanyinjiao) and LI-4 (Hegu)). METHODS: In group A (n = 50), measurements (Doppler ultrasound and fetal heart rate) were performed at term after an uneventful pregnancy (#1) followed by acupuncture treatment using the acupuncture-point SP-6 bilaterally. The treatment time lasted 15 min after which the next measurement (#2) was carried out. The needles were then inserted into the LI-4 acupuncture point for a further 15 min. A third measurement at the end of acupuncture treatment (#3) completed the session. In group B (n = 25), measurements were made before (#1) and after (#4) acupuncture at LI-4 acupuncture points only. RESULTS: In group A, the mean systolic/diastolic (S/D) ratios of UA #1, UA #2 and UA #3 were 2.45, 2.38 and 2.22, respectively (P = 0.0012). The difference in mean S/D ratios between UA #1 and UA #3 as well as that between UA #2 and UA#3 were statistically significant (P = 0.0002 and P = 0.008, respectively). There was no difference between the mean S/D ratios of the uterine artery and between the mean resistance indices of the fetal aorta. In group B, the only significant difference between measurements following acupuncture treatment was in fetal heart rate (139 vs. 143 bpm, P = 0.02). CONCLUSION: Our study indicates a positive influence of acupuncture treatment on umbilical artery waveforms when using a combination of SP-6 (Sanyinjiao) and LI-4 (Hegu) acupuncture points. Acupuncture performed at these sites either individually or in combination does not seem to affect blood flow in the fetal aorta or uterine artery.

Acupuncture Therapy↗
PubMed2001

Combined prenatal ultrasound and magnetic resonance imaging in two fetuses with suspected arachnoid cysts.

Sonography and ultrafast magnetic resonance imaging were used in the prenatal assessment of two fetuses with sonographically suspected arachnoid cysts. In one case magnetic resonance imaging confirmed the ultrasound diagnosis, in the other case magnetic resonance imaging revealed the presence of a midline cyst associated with dysgenesis of the corpus callosum. Ultrafast magnetic resonance imaging is a useful supplementary imaging method in the evaluation of pregnancies complicated by fetal cerebral anomalies.

Adult↗
PubMed2001

[Prenatal diagnosis of full, non mosaic trisomy 22 in the third trimester].

A 31-year-old Caucasian women was referred to our department after IUGR was suspected by her gynaecologist at 29 weeks' amenorrhea in her second pregnancy. Multiple anomalies were detected by prenatal ultrasound in the 29th week of gestation. Chordocentesis was performed and revealed a Trisomy 22 in all fetal blood cells. The pregnancy was terminated. Post-mortem investigations excluded chromosomal mosaicism. Prenatal ultrasound findings and post-mortem features are presented.

Abnormalities, Multiple↗
PubMed2001

Evaluation of first trimester pregnancy in cases of threatened abortion by means of doppler sonography.

OBJECTIVE: Threatened abortion is one of the major problems in Obstetrics and applies to (1/3) of all pregnancies. The aim of this study was to establish normal ranges for Doppler indices of the flow velocity waveforms in uterine arteries (S/D, RI, PI) and ss-hCG serum concentrations in a control group in the first trimester of pregnancy. The obtained values were compared with those obtained in pregnancies threatened by abortion (6 - 11 weeks). METHODS: Investigated groups: 55 controls and 47 with symptoms of threatened abortion, 27 of them aborted. Ultrasound examinations were carried out by means of an endovaginal probe. Serum ss-hCG was determined by immunoenzymatic method. The standards for measured values were established based on means from measurements obtained in the control group in the corresponding week of pregnancy. RESULTS: We observed negative correlation between gestational age and RI and negative tendencies for S/D and PI indices in the control group. Positive correlation (p < 0.05) was found between ss-hCG serum concentration and gestational age (up to 9(th) week) and significant differences in ss-hCG concentrations between both examined groups. There were also statistical differences for S/D, RI and PI indices in both analyzed groups for each week of pregnancy. CONCLUSION: We conclude that measurement of the quality parameters of the flow velocity waveforms in uterine arteries and calculation of beta-hCG concentration in serum are useful methods in diagnosis of threatened abortion in the first trimester of pregnancy.

Abortion, Threatened↗
PubMed2000

The TSC1 gene product, hamartin, negatively regulates cell proliferation.

Tuberous sclerosis is an autosomal dominant hereditary disease caused by mutations in either the TSC1 or the TSC2 tumor suppressor gene. The TSC1 gene on chromosome 9q34 encodes a 130 kDa protein named hamartin, and the TSC2 gene on chromosome 16p13.3 codes for tuberin, a 200 kDa protein. Here we show that expression of hamartin, assayed by immunoblot analyses, is high in G(0)-arrested cells and hamartin is expressed throughout the entire ongoing cell cycle. An interaction of hamartin and tuberin can be detected in every phase of the cell cycle. Ectopic expression of high levels of hamartin attenuates cellular proliferation. We provide evidence that this effect could depend on a coiled-coil region earlier proposed to be involved in binding of hamartin to tuberin. Further investigations revealed that hamartin affects cell proliferation via deregulation of G(1) phase. Our data have a clear impact on understanding the role of hamartin during development of this disease.

Animals↗
PubMed2000

Association of fetal and maternal carboxyhemoglobin levels in normal and Rh-alloimmune pregnancies.

OBJECTIVE: To compare paired antepartum fetal/maternal COHb ratios in whole blood from control and alloimmunized pregnancies and to examine the relationships between fetal and maternal COHb. METHODS: COHb levels were measured in paired fetal and maternal blood samples obtained at cordocentesis in 47 control and 16 Rh-alloimmunized pregnancies. COHb was determined by gas chromatography. Results were analyzed by t-test, regression and analysis of covariance. RESULTS: Although fetal/maternal COHb ratios for control and alloimmunized pregnancies were not statistically significantly different, i.e. 1. 11+/-0.04 and 1.26+/-0.09, respectively (P=0.09), fetal COHb levels were higher in Rh-alloimmunized fetuses (P=0.0002). Fetal COHb levels were also higher than paired maternal levels among the alloimmunized group (P=0.011), but not among the control group (1. 04+/-0.04, P=ns). In univariate regression analysis, fetal and maternal COHb levels were significantly correlated with one another in both control (r=0.52, P=0.0002) and alloimmunized pregnancy groups (r=0.52, P=0.05). Comparison of the slopes of the fetal versus maternal COHb plots for the two groups showed a significant difference (P=0.02), with the alloimmunized group having the steeper slope. CONCLUSION: Differences in the antepartum fetal-maternal COHb relationships in control and alloimmunized groups likely reflect increased endogenous CO production among alloimmunized fetuses as a result of pathologic hemolysis.

Adult↗
PubMed2000

Prenatal diagnosis of fetal urinary ascites.

We report on a rare in utero appearance of the rupture of the fetal bladder caused by low urinary tract obstruction with subsequent urinary ascites. The findings on prenatal sonography, postnatal X-ray examinations and postnatal surgical treatment are described and the literature is reviewed.

Adult↗
PubMed2000

Transplacental priming of the human immune system with environmental allergens can occur early in gestation.

BACKGROUND: Allergen-specific T cells play an important role in the allergic immune response to various environmental allergens. In vitro studies have shown that T-cell responses to these allergens do occur prenatally. Some allergens (milk proteins) appear to lead more often to fetal T-cell priming than others (house dust mite allergen, ovalbumin, and birch and grass pollen allergens). OBJECTIVE: We sought to determine the window of opportunity for prenatal T-cell priming with inhalant and nutritive allergens. METHODS: The T-cell reactivity of cord blood cells derived through cordocentesis from unborn (n = 62) and term babies (n = 114) in response to inhalant allergens (birch pollen major allergen, recombinant Bet v 1, and timothy grass major allergen, recombinant Phl p 1) was investigated. RESULTS: The results demonstrate that allergen-specific T-cell reactivity is as common in preterm as in term infants (Bet v 1, 8% and 5%, respectively; Phl p 1, 20% and 25%, respectively). CONCLUSIONS: Our data support the hypothesis that differential handling of the allergenic proteins by the feto-placental barrier and possibly by antigen-presenting cells may directly modulate the ensuing T-cell immune response.

Administration, Inhalation↗
PubMed1999

Three-dimensional ultrasonographic imaging of fetal tooth buds for characterization of facial clefts.

The purpose of this prospective study was to investigate whether the antenatal characterization of fetal facial clefts can be improved by three-dimensional ultrasonographic visualization of fetal tooth buds. Between January 1996 and June 1998, seventeen consecutive fetuses with facial clefts were examined for fetal maxillary tooth buds in the cleft area using three-dimensional multiplanar reconstruction. It was possible in all cases to classify the clefts either as cleft lip alone or unilateral cleft lip and palate or bilateral cleft lip and palate. Three-dimensional computed tomography and histological jaw sections of three stillborn infants were produced in order to examine the correlation between the sonographic, radiographical and histological findings. The prenatal characterization of the facial clefts by means of a visualization of the tooth buds showed to be accurate postnatally in all cases. The sonographic proof of tooth buds might gain increasing importance as this technique seems to facilitate and improve the prenatal classification of suspected facial clefts.

Adult↗
PubMed1999

Unfused amnion and chorion after 14 weeks of gestation: associated fetal structural and chromosomal abnormalities.

OBJECTIVE: To assess possible associations between delayed chorioamniotic fusion after the end of the first trimester and fetal structural and/or chromosomal abnormalities. DESIGN: We prospectively studied 492 fetuses from high-risk pregnancies between 14 and 18 weeks of gestation by transabdominal ultrasonography. Of these, 60 (12%) had unfused amnion and chorion. RESULTS: No additional abnormalities were detected in 28/60 fetuses (47%). Karyotyping was performed in 27/28 cases, and one fetus had trisomy 13 (4%). Ten of 24 fetuses (42%) of this group attending a second mid-trimester scan after 18 weeks of gestation had abnormal sonographic findings not noted at the initial scan. Thirty-two of 60 (53%) fetuses had additional abnormalities at the initial scan: cystic hygroma (n = 12), increased nuchal translucency (n = 10) and other abnormalities (n = 10). Karyotyping revealed aneuploidy in 13 of 28 fetuses (46%) tested: trisomy 21 (n = 5), Turner's syndrome (n = 3), trisomy 18 (n = 3) and trisomy 13 (n = 2). Additional fetal abnormalities were detected only at the second scan after 18 weeks of gestation in three of eight fetuses (38%). CONCLUSIONS: These preliminary data suggest that the sonographic finding of unfused amnion and chorion after 14 weeks of gestation may be associated with fetal structural and/or chromosomal abnormalities.

Amnion↗
PubMed1999

The value of echogenic foci ('golfballs') in the fetal heart as a marker of chromosomal abnormalities.

OBJECTIVE: The aim of our study was to determine the significance of antenatally detected hyperechogenic foci in the fetal heart. DESIGN: Prospective study. SUBJECTS AND METHODS: During a 21-month period, 6995 women underwent a sonographic screening investigation. A detailed structural survey was performed on each fetus according to our sonography protocol, including a four-chamber view and an evaluation of the great vessels, as permitted by gestational age. We prospectively identified each fetus with an echogenic intracardiac focus. RESULTS: A total of 150 fetuses with this sonographic finding were identified. The incidence rate was 2.15%. In 114 patients (76%), prenatal karyotyping was performed. The aneuploidy rate was 4.4%. CONCLUSIONS: The echogenic intracardiac focus can be easily diagnosed in most cases. This should prompt an extensive search for other 'soft' markers. The presence of an echogenic intracardiac focus as a single soft marker should raise the question of prenatal karyotyping. It might help in the decision-making regarding invasive prenatal testing in cases with an otherwise low risk for chromosomal abnormality. In cases with other markers for chromosomal abnormality (advanced maternal age, sonographic signs, positive serum marker screening), the presence of an echogenic intracardiac focus should be an additional incentive for a chromosomal examination.

Adolescent↗
PubMed1999

Male fetuses are particularly affected by maternal alloimmunization to D antigen.

BACKGROUND: It is hypothesized that male fetuses are more severely affected by fetomaternal alloimmunization to D antigen than female fetuses. STUDY DESIGN AND METHODS: One hundred four consecutive pregnancies with single D+ fetuses (51 males, 53 females) and maternal anti-D titers >16 were analyzed retrospectively. RESULT: Sixty fetuses (58%) received intrauterine transfusions. Male fetuses required more transfusions than females (5.0 vs. 2.0, p = 0.0001). At the initial transfusion, male fetuses had a lower gestational age (24.5 vs. 31.0 weeks, p = 0.0007), cord blood hemoglobin content (6.45 vs. 8.75 g/dL, p = 0.01), and hematocrit (19.8 vs. 26.8%, p = 0.004) than female fetuses. After adjustment for maternal gravidity, parity, and history of affected offspring, the odds ratio for development of hydrops by male fetuses was 13.1 (95% CI 2.69-63.6, p = 0.001). Perinatal mortality was higher in male (18%) fetuses than in female (6%) (adjusted odds ratio for males 3.38; 95% CI 0.59-19.46, p = 0.17). CONCLUSION: Male fetuses are particularly affected by maternal alloimmunization to D and require more intense antepartum surveillance than female fetuses.

Adult↗
PubMed1999

[Echogenic intracardiac structures (golf ball phenomenon) as predictors of chromosome anomalies].

UNLABELLED: Small echogenic areas in the fetal heart are known as the golf ball phenomenon. These structures are considered by some to be a marker for chromosomal anomalies. AIM: To prospectively study the relationship of echogenic intracardiac structures and chromosomal aberrations. METHODS: Over a 15 month period (6/96-9/97) 4500 unselected fetuses between 16-31 weeks were screened for malformations; in each case echogenic intracardiac structures were sought. RESULTS: In 77 cases (1.17%) single or multiple echogenic punctate intracardiac structures could be diagnosed. In 60 fetuses (78%) chromosome analysis was performed. Two (3.3%) had chromosomal abnormalities--trisomy 21 and 45.XO/46.XX. CONCLUSION: The golf ball phenomenon appears to be a normal variation in the development of the papillary muscle. This sign is usually easily to identify and if present, should lead to a more detailed screening for anomalies. In the case of other sonographic abnormalities, with advanced maternal age or with a positive triple test, a chromosomal analysis should be performed.

Adult↗