Biomedical subjects

C Berg

Publications and source records attributed to C Berg.

At least 37 records · Page 2Linked to original sources

PubMed2005

Atrioventricular block detected in fetal life: associated anomalies and potential prognostic markers.

OBJECTIVES: To assess the spectrum of anomalies associated with fetal heart block and to identify possible prognostic markers. METHODS: Retrospective review of all cases of second- or third-degree heart block identified in two tertiary referral centers in Germany (Bonn and Lübeck) and one in the USA (Baltimore). RESULTS: Sixty fetuses with heart block were identified in the study period. Thirty-two had complex cardiac malformations, 31 of them associated with left isomerism. The outcomes of these fetuses were 22 terminations of pregnancy (TOP), three intrauterine fetal deaths (IUFD), three neonatal deaths (NND), two childhood deaths (CD) and there were two survivors. In 20 cases without complex cardiac malformations maternal antinuclear-antibodies were detected. Their outcomes were 2 TOP, 1 IUFD, 1 NND and 16 survived. The remaining eight cases had neither complex cardiac malformations nor associated maternal antibodies. Their outcomes were 1 TOP, 2 IUFD, 2 NND and 3 survived. After exclusion of terminated cases, hydrops as well as the presence of cardiac defects was significantly associated with non-survival (P < 0.01). The cardiothoracic circumference ratio was significantly higher in hydropic fetuses and significantly negatively correlated with survival in immune-mediated cases (P < 0.01). Atrial and ventricular frequencies and their evolution did not accurately predict fetal or neonatal outcome. Sympathomimetic treatment in seven cases was not associated with favorable fetal outcome in cases of hydrops or cardiac malformations. CONCLUSIONS: The most important marker predicting adverse outcome in cases of heart block is fetal hydrops, followed by the association with complex cardiac malformations. Cases without cardiac malformations have a significantly better prognosis, especially in the absence of severe cardiomegaly.

Adult↗

PubMed2005

Fetal echocardiographic evaluation of atrial morphology and the prediction of laterality in cases of heterotaxy syndromes.

OBJECTIVE: To evaluate whether abnormal atrial morphology, which is well recognized in autopsy series, is detectable by fetal echocardiographic examination of the four-chamber view, and can therefore be utilized to differentiate left from right isomerism in heterotaxy syndromes. METHODS: This study was a retrospective review of 30 cases with prenatally diagnosed heterotaxy syndromes. Ultrasound video recordings and still images were reviewed with respect to atrial morphology in the four-chamber view. In 25 cases the morphology of both atria was sufficiently well visualized on the recordings to be evaluated and only these were included in the study. RESULTS: Two types of atrial morphology were distinguished in our cohort: a sickle-shape with the tip pointing laterally and apically, and a blunt shape resembling the usual atrial appearance in the four-chamber view. Nineteen out of the 25 cases (76%) presented with isomerism of the atria in the four-chamber view. Thirteen had bilateral sickle-shaped atrial morphology, all associated with left isomerism. Six had bilateral blunt-shaped atrial morphology, all associated with right isomerism. The atria of the remaining six cases were not isomeric, the right atrium being sickle-shaped and the left blunt-shaped. Five of the latter cases were associated with left and one with right isomerism. CONCLUSIONS: The majority of prenatally diagnosed heterotaxy syndromes seem to present with isomeric atrial morphology in the four-chamber view. In these cases a differentiation between left and right isomerism can be based on the two distinct types of atrial morphology. This may further enhance the prenatal differentiation of these syndromes.

Chi-Square Distribution↗

PubMed2005

Atypical ductus venosus blood flow pattern in fetuses with severe tricuspid valve regurgitation.

We observed seven cases of atypical ductus venosus (DV) blood flow velocity waveform pattern with impairment of systolic forward flow resulting in a notch or a significant reduction in peak velocity during the S-wave in systole. All affected fetuses had severe tricuspid valve regurgitation associated with congestive heart failure and/or cardiac malformations. The decrease in venous systolic forward flow modulates the venous pulsatility indices towards more favorable values and should be considered when fetuses with tricuspid regurgitation are followed by Doppler assessment of the DV. Detection of these changes in the DV flow profile should prompt detailed color Doppler echocardiography with special emphasis on right atrioventricular valve regurgitation.

Blood Flow Velocity↗

PubMed2005

Trends in overweight and obesity from 1985 to 2002 in Göteborg, West Sweden.

OBJECTIVE: To study secular trends in overweight and selected correlates in men and women in Göteborg, Sweden. DESIGN: Cross-sequential population-based surveys. SUBJECTS: A total of 2931 female and 2691 male subjects aged 25-64 y participated in WHO MONICA surveys (1985, 1990, 1995) and the INTERGENE study (2002). MEASUREMENTS: Body mass index (BMI), waist-to-hip ratio (WHR), prevalence of overweight (BMI> or =25 kg/m(2)), and obesity (BMI> or =30 kg/m(2)). RESULTS: Mean body weight increased by 3.3 kg for women and 5 kg for men, with a significant upward trend for BMI in men but not women over the 17-y observation period. The prevalence of overweight and obesity increased significantly in both sexes over the period. The largest increase was observed in men, and in women aged 25-34 y. In 2002, the prevalence of overweight was 38% in women and 58% in men, and the prevalence of obesity was 11% in women and 15% in men. No significant secular trends were observed for WHR, but there was an upward trend in prevalence of WHR>0.85 in women. A decreased prevalence of smoking in both sexes was observed together with an increase in reported leisure time physical activity. No significant secular trends were observed in rates of self-reported diabetes, although the risk of diabetes attributable to obesity was 24%. CONCLUSION: The results indicate that 25-64-y-olds in the recent survey were more overweight and obese than earlier studied MONICA participants. The increase in BMI was more pronounced in men while abdominal obesity increased principally in women. Although obesity and overweight are clearly important risk factors for type 2 diabetes, the number of diabetics remains low and any secular increase is not yet apparent.

Adult↗

PubMed2005

Effects of a combination of rhGH and metformin on adiponectin levels in patients with metabolic syndrome.

Adiponectin is a recently discovered adipocytokine that correlates negatively with body mass index and body fat. In patients with GH deficiency, treatment with recombinant human growth hormone (rhGH) reduces body fat mass and thus may also have a favorable effect in patients with metabolic syndrome, and would also be expected to increase adiponectin levels. However, due to its diabetogenic effect, rhGH treatment also bears an increased risk for the development of type 2 diabetes mellitus. We conducted a 18-month randomized, double-blind, placebo-controlled study to assess the effect of rhGH in combination with metformin (MGH) in 14 obese men (7 MGH; 7 Metformin+Placebo, 54 +/- 2 years, BMI 33.0 +/- 1.2 kg/m(2)) with mildly elevated fasting plasma glucose (FPG) at screening (6.1-8.0 mmol/l). All patients received metformin (850 mg twice daily) for treatment of type 2 diabetes mellitus/impaired glucose tolerance, either alone or in combination with rhGH (daily dose 9.5 mug/kg body weight). Glucose disposal rate (GDR) was measured using the euglycemic hyperinsulinemic clamp technique, and body composition was measured by DEXA at 0 and 18 months. After 18 months, the mean adiponectin concentration increased by 32 +/- 11 % (p = 0.018) in the MGH group and did not change in the MP group (- 10 +/- 13 %; p = n. s.). The difference in relative changes in adiponectin levels between the two groups after 18 months was statistically significant (p = 0.026). Improvement in insulin sensitivity (GDR) correlated positively with adiponectin levels (r = 0.73; p = 0.004). In conclusion, the additional administration of rhGH increased adiponectin levels in patients with metabolic syndrome, indicating its potential role in adiponectin-associated insulin sensitivity alterations.

Adiponectin↗

PubMed2005

In search for predictive factors for atopy in human cord blood.

Since early prevention is regarded as an important corner stone in the management of atopic diseases, the identification of reliable markers detecting individuals at risk are of major interest. Therefore, many efforts have been made to unravel reliable predictors for atopy which might identify children at risk and allow the initiation of preventive strategies at an early stage. In the past, much scientific energy has been forced in particular on the development of as noninvasive methods as possible to reach this goal. It is obvious that the identification of markers for atopy at the earliest time of life - namely immediately after birth - represents one of the most attractive attempts. In consequence various studies have been initiated to address this issue investigating markers for atopy in cord blood. Most of them have been geared to our current knowledge about cellular and soluble factors which are dysregulated in adolescent atopic individuals. Although the findings of these studies will improve our knowledge about the initial evolution of atopy, several parameters evaluated did not show any association or have led to almost conflicting results. In order to provide an up-date about the current developments in this field, recent research findings on predictive factors for atopy in cord blood are summarized in the following synopsis.

Antigen-Presenting Cells↗

PubMed2004

Antenatal corticosteroid therapy in premature infants.

OBJECTIVE: The objective was to examine the effect of antenatal corticosteroid treatment on premature infants, with special attention to any possible adverse effects on neonatal outcome. METHODS: A retrospective chart review of all singleton and multiple pregnancies delivered in our perinatal center between 1991 and 1999, who had a birth weight of < or =1,500 g and who were subsequently admitted to our neonatal intensive care unit. Three hundred and sixty-five infants were included in the study and divided into two groups. One group had a gestational age below 28 weeks (< or =196 days) and one group was 28 weeks (>196 days) onward. RESULTS: Antenatal corticosteroid therapy reduced the duration of mechanical ventilation, the need for supplementary oxygen, and the need for exogenous surfactant in neonates born at >196 days's gestation (p<0.05). Corticosteroid treatment seemed to benefit the respiratory distress syndrome (RDS; p=0.051) in this group. There were less cases of necrotizing enterocolitis and neonatal death in the group with corticosteroid treatment (p<0.05). Before 28 weeks' gestation, all parameters that were examined (e.g., duration of mechanical ventilation, need for supplemental oxygen, need for exogenous surfactant, RDS) showed no significant differences between those pregnancies pre-treated with corticosteroids or those not treated with corticosteroids. There was no adverse effect of corticosteroids on chorioamnionitis and early onset sepsis in pregnancies with a premature rupture of the membranes. Repeated corticosteroid treatment had no effect on birth weight, but did not improve neonatal outcome either. The interval between last corticosteroid treatment and delivery had no influence on RDS. There was no effect of corticosteroids on periventricular leukomalacia and intraventricular hemorrhage. Regression analysis showed a higher risk of severe RDS in multiple gestations. CONCLUSION: Antenatal betamethasone treatment reduces perinatal morbidity and mortality after 28 weeks' gestation. We found no adverse effects and also no benefit of repetitive corticosteroid treatment. The interval between last corticosteroid treatment and delivery did not influence the incidence of RDS. Dose, timing, and rate of antenatal corticosteroids should be reconsidered in multiple gestations.

Adrenal Cortex Hormones↗

PubMed2004

[Effects of slow-stroke massage as complementary treatment of depressed hospitalized patients].

BACKGROUND AND OBJECTIVE: Among methods of complementary treatment of depression, massage plays an important role, at least in the U.S.A. Although there are some pointers to the antidepressive and anxiolytic action of slow-stroke massage in various randoms studies of patient cohorts, there have been no controlled trials of depressed hospitalized patients. PATIENTS AND METHODS: 32 depressed patients (24 women, 8 men; average 48 years - coveringthe entire spectrum of affective disorders listed in the ICD but without comorbidity in axis 2) with a minimum BRMS score of 16,7 - were included in the study. The randomized cross-over trial involved three massage sessions at set times (M) and sessions in two control groups (C) (relaxation and perception) lasting for 60 min 2-3 days apart. Under the control conditions there was no touching. The effects of depression-specific variables (e.g. mood, drive, abnormal cognition, as well as typical progress variables of the slow-stroke massage (bodily awareness, general state of health, etc.) were measured by both the patients' own assessment and that of an independent observer. RESULTS: Under condition of both M and C, comparison of before and after effects, there was not only the primarily postulated mood-enhancing effect, but also some very marked changes in almost all dimension, the mean improvement ratio under M often being stronger than under C. After Bonferroni correction for multiple tests, the statistical significance there remained the stronger effect of M in four dimensions (global tenseness, restlessness, depressed mood, neck/shoulder tension). The intensive effect of M compared with C was confirmed by both female and male patients regarding the answers to various open questions. CONCLUSIONS: Slow-stroke massage is suitable for adjuvant acute treatment of patients with depression. It is very readily accepted also by very ill patients. In relation to the skin as an organ that aids identity, non-hedonic depressed patients are able to recognize the sensory quality of therapeutic touching as a positive stimulus. In view of the latent period of many weeks and the only moderate efficacy of antidepressants, the described complementary method, which does not require physiotherapeutic training, should be more often applied in both a hospital and general practice setting.

Complementary Therapies↗

PubMed2004

Targeted first-trimester prenatal diagnosis before fetal reduction in triplet gestations and subsequent outcome.

OBJECTIVE: To assess the feasibility of targeted first-trimester ultrasound evaluation in triplet gestations and to report the outcome in reduced and expectantly managed triplets. METHODS: This was a retrospective analysis of 127 triplets at 11-14 weeks with targeted ultrasound examination including nuchal translucency (NT) screening. RESULTS: One or more abnormal findings were observed in 33 of 381 fetuses (8.7%), including increased NT (n = 18), malformations (n = 4), aneuploidy (n = 3), relative intrauterine growth restriction (n = 2) or spontaneous demise (n = 13). Of 63 patients (49%) who chose reduction, selective termination due to abnormal findings was performed in 13 fetuses. The rates of complete abortion <24 weeks were 9.8% and 3.2% for those with expectant management and fetal reduction, respectively. Expectantly managed triplets delivered significantly earlier (31.1 +/- 3.8 vs. 35.6 +/- 3.3 weeks) (P < 0.01) with a lower mean birth weight (1483 +/- 552 g vs. 2305 +/- 557 g) (P < 0.01) and a lower number of liveborn fetuses (85.6% vs. 97.4%) (P < 0.01) than those reduced. CONCLUSION: Targeted first-trimester ultrasound is feasible and reliable in triplet gestations and should be an integral part of the counseling process. It results in more accurate selection for those who consider fetal reduction. Our data further support fetal reduction as a valuable strategy to improve perinatal outcome in triplet pregnancies.

Adult↗

PubMed2004

Different preferences for prenatal diagnosis in pregnancies following assisted reproduction versus spontaneous conception.

The uptake of prenatal diagnosis in 436 singleton and 146 twin pregnancies following assisted reproduction was compared with a matched group of spontaneous conceptions. The first and second trimester ultrasound examination included target fetal anatomic evaluation and screening by specific markers described for fetal aneuploidy. Women with assisted conception attended significantly more often for first trimester prenatal diagnosis (57.9 versus 34.9%, P < 0.01), but had fewer examinations in the early second trimester at 15-18 weeks (37.8 versus 48.8%, P < 0.01) than those with spontaneous conception. Screen positive results of 6.5 and 6.9% for first trimester examination and 6.0 and 7.3% for second trimester examination were found in assisted conceptions and controls respectively. A significantly higher rate of invasive prenatal diagnosis was observed in the second trimester for spontaneous conceptions, 20.0 versus 11.8% (P < 0.01) compared with assisted conceptions. This was attributed to the higher rate of invasive procedures in advanced maternal age >/=35 years of 40.7 versus 28.6% (P = 0.01) in spontaneous and assisted conceptions respectively. With the purpose of avoiding invasive testing, women with assisted conception were more likely to use the results of the ultrasound examination to guide their final decision about invasive testing, rather than undergo genetic amniocentesis as a first option.

Amniocentesis↗

PubMed2004

Effects of a combination of recombinant human growth hormone with metformin on glucose metabolism and body composition in patients with metabolic syndrome.

Abdominal obesity and insulin resistance are central findings in metabolic syndrome. Since treatment with recombinant human growth hormone (rhGH) can reduce body fat mass in patients with organic GH deficiency, rhGH therapy may also have favourable effects on patients with metabolic syndrome. However, due to the highly increased risk for type 2 diabetes in these patients, strategies are needed to reduce the antagonistic effect of rhGH against insulin. We conducted a 18-month randomised, double-blind, placebo-controlled study to assess the effect of rhGH in combination with metformin (Met) in patients with metabolic syndrome. 25 obese men (55 +/- 6 years, BMI 33.4 +/- 2.9 kg/m (2)) with mildly elevated fasting plasma glucose (FPG) levels at screening (6.1-8.0 mmol/l) were included. All patients received metformin (850 mg twice daily) either alone or in combination with rhGH (daily dose 9.5 microg/kg body weight). An oGTT was performed at baseline, after 6 weeks, and after 3, 6, 12, and 18 months of therapy. Glucose disposal rate (GDR) was measured by euglycemic hyperinsulinemic clamp at 0 and 18 months and body composition was measured by DEXA every 6 months. In the Met + GH group, IGF-I increased from 146 +/- 56 microg/l to 373 +/- 111 microg/l (mean +/- SD) after 3 months and remained stable after that. BMI did not change significantly in either group during the study. Total body fat decreased by -4.3 +/- 5.4 kg in the Met + GH group and by -2.7 +/- 2.9 kg in the Met + Placebo group (differences between the two groups: p = n. s.). Waist circumference decreased in both groups (Met + GH: 118 +/- 8 cm at baseline, 112 +/- 10 cm after 18 months; Met + Placebo: 114 +/- 7 cm vs. 109 +/- 8 cm; differences between the two groups: p = 0.096). In the Met + GH group, FPG increased significantly after 6 months (5.9 +/- 0.7 vs. 6.7 +/- 0.4 mmol/l; p = 0.005), but subsequently decreased to baseline levels (18 months: 5.8 +/- 0.2 mmol/l). FPG remained stable in the Met + Placebo group until 12 months had elapsed, and then slightly decreased (baseline: 6.2 +/- 0.3, 18 months: 5.5 +/- 0.6 mmol/l, p = 0.02). No significant changes were seen in either group regarding glucose and insulin AUC during oGTT or HbA (1c) levels. GDR at 18 months increased by 20 +/- 39% in Met + GH-group and decreased by -11 +/- 25% in the Met + Placebo group (differences between the two groups: p = 0.07). In conclusion, treatment of patients with metabolic syndrome and elevated FPG levels did not cause sustained negative effects on glucose metabolism or insulin sensitivity if given in combination with metformin. However, since our data did not show significant differences between the two treatment groups with respect to body composition or lipid metabolism, future studies including larger numbers of patients will have to clarify whether the positive effects of rhGH on cardiovascular risk factors that have been shown in patients with GH deficiency are also present in patients with metabolic syndrome, and are additive to the effects of metformin.

Aged↗

PubMed2004

Embryonic exposure to oestrogen causes eggshell thinning and altered shell gland carbonic anhydrase expression in the domestic hen.

Eggshell thinning among wild birds has been an environmental concern for almost half a century. Although the mechanisms for contaminant-induced eggshell thinning are not fully understood, it is generally conceived to originate from exposure of the laying adult female. Here we show that eggshell thinning in the domestic hen is induced by embryonic exposure to the synthetic oestrogen ethynyloestradiol. Previously we reported that exposure of quail embryos to ethynyloestradiol caused histological changes and disrupted localization of carbonic anhydrase in the shell gland in the adult birds, implying a functional disturbance in the shell gland. The objective of this study was to examine whether in ovo exposure to ethynyloestradiol can affect eggshell formation and quality in the domestic hen. When examined at 32 weeks of age, hens exposed to ethynyloestradiol in ovo (20 ng/g egg) produced eggs with thinner eggshells and reduced strength (measured as resistance to deformation) compared with the controls. These changes remained 14 weeks later, confirming a persistent lesion. Ethynyloestradiol also caused a decrease in the number of shell gland capillaries and in the frequency of shell gland capillaries with carbonic anhydrase activity. These data suggested that a disrupted carbonic anhydrase expression was involved in the mechanism for the oestrogen-induced eggshell thinning found in this study. The results support our hypothesis that eggshell thinning in avian wildlife can result from a structural and functional malformation in the shell gland, induced by xeno-oestrogen exposure during embryonic development.

Animals↗

PubMed2003

Local and systemic tolerability of magnesium sulphate for tocolysis.

An open-label, randomised, parallel-group, study was conducted in three study centres in women with premature labor and indication for a single agent intravenous tocolysis therapy with magnesium sulphate. The aim of this study was to examine the local and general tolerability and side-effects of magnesium sulphate for tocolysis. Furthermore, we tested the tolerability of a ready-for-use magnesium solution. No measurements of efficacy were performed during this study. Initially, patients received a loading dose of 4.0 g magnesium sulphate administered over 30 min. Thereafter, a continuous intravenous infusion of 1-2 g magnesium sulphate per hour up to 21 days was given. Venous score (Maddox), vital signs, adverse events as well as general tolerability (assessed by investigator and patients) and blood parameters were assessed. We showed good local and systemic tolerability of high dose magnesium sulphate for tocolysis. Only seven patients (15%) were withdrawn from the study prematurely due to minor adverse events. Potential serious complications of MgSO(4) such as respiratory arrest or clinically relevant respiratory depression were not observed. The most frequently reported local adverse events were injection site pain, itching, erythema, swelling, induration and palpable venous cord. The most common systemic adverse events considered to be possibly related to the study drugs involved the nervous system (dizziness) followed by the digestive system (nausea, constipation). Systolic and diastolic blood pressure changed only slightly during the treatment. Respiratory rate and body temperature remained stable also. Toxic magnesium levels (>2.5 mmol/l) were not observed. The assessment of the clinical investigators with regard to tolerability was very good or good in 72.5% of the patients. The introduction of the ready-to-use solution has the advantage of eliminating the need to mix the solution prior to administration. This means a lower risk of overdose and contamination.

Adult↗

PubMed2003

Prenatal diagnosis of femur-fibula-ulna complex by ultrasound examination at 20 weeks of gestation.

We describe the prenatal sonographic diagnosis of femur-fibula-ulna complex at 20 weeks of gestation. On targeted ultrasound examination, a severe malformation of the lower limbs was observed. Further sonographic exploration demonstrated bilateral asymmetrical femoral hypoplasia, hypoplasia of both tibiae, bilateral aplasia of the fibulae and oligosyndactyly of the right hand with absence of the 4th and 5th rays. The prenatal sonographic features and differential diagnosis are discussed.

Abortion, Induced↗

PubMed2003

Venous Doppler ultrasound in 146 fetuses with congenital heart disease.

OBJECTIVE: To assess the influence of isolated congenital heart disease (CHD) on fetal venous Doppler blood flow velocity waveforms. METHODS: Doppler flow velocimetry was performed in the inferior vena cava and ductus venosus in 146 consecutive fetuses with antenatally diagnosed CHD. Gestational age ranged between 19 and 39 weeks. Fetuses with isolated CHD without non-immune hydrops fetalis (NIHF) (Group A, n = 89) were separated from seven fetuses showing isolated CHD with NIHF (Group B) and 50 cases complicated by chromosomal or other extracardiac malformations, intrauterine growth restriction or non-cardiogenic NIHF (Group C). The control group comprised 109 healthy fetuses of uncomplicated pregnancies. Individual peak velocity index for veins (PVIV) measurements were converted into their Z-scores (delta values) for statistical analysis. RESULTS: There was no statistical difference between fetuses with isolated CHD (Group A) and controls, for the delta PVIV of neither the ductus venosus nor the inferior vena cava. Statistical analysis revealed significant differences between non-isolated CHD fetuses (Group C) and controls for both vessels. However, in a separate analysis of isolated right heart malformations compared with the remaining isolated heart malformations (Groups A and B), a significant difference was observed for the ductus venosus, but not the inferior vena cava. There was an overall survival of 62%. In Group A, 58% of fetuses survived despite increased PVIV and 22% of fetuses with normal venous Doppler had an adverse outcome. All fetuses with cardiogenic NIHF (Group B) died. CONCLUSION: Doppler studies of the ductus venosus and inferior vena cava in fetuses with isolated CHD do not present sufficient alterations to be a reliable marker for screening purposes for CHD in mid-second- and third-trimester fetuses. Furthermore, venous Doppler did not predict fetal outcome in cases of isolated CHD. Abnormal venous Doppler results were mainly attributable to myocardial dysfunction and also to severe right heart obstruction even in the absence of congestive heart failure. Therefore, venous Doppler studies are clinically helpful in indirectly monitoring cardiac function in fetuses with cardiac malformations.

Blood Flow Velocity↗

PubMed2003

Prenatal ultrasound diagnosis and management of body stalk anomaly: analysis of nine singleton and two multiple pregnancies.

OBJECTIVE: To determine prenatal ultrasonographic features and management of fetuses with body stalk syndrome in singleton and multiple gestations. METHODS: In a retrospective chart analysis we reviewed all cases with body stalk anomaly diagnosed in our prenatal unit between 1994 and 2001. During this time period we adopted a uniform approach to the investigation of cases of body stalk anomaly, including amniocentesis or chorionic villus sampling (CVS) for fetal karyotyping. A general schematic sonographic examination was performed to search for fetal abnormalities and was followed by detailed two-dimensional and color-coded Doppler echocardiography. Nuchal translucency (NT) measurements were performed before 14 weeks of gestation. Postmortem examinations of fetuses were performed following termination by induction with prostaglandin. RESULTS: Eleven fetuses with body stalk anomaly were diagnosed, including two multiple pregnancies complicated by discordant body stalk anomaly. The typical ultrasonographic features were a major abdominal wall defect, severe kyphoscoliosis, limb abnormalities, neural tube defects, and a malformed, short umbilical cord with a single artery. None of the fetuses demonstrated craniofacial defects. All placentae that were examined showed evidence of persistence of the extra-embryonic celomic cavity. NT measurements were abnormal in all cases. Fetal karyotyping was normal in ten cases. In one case CVS showed a mosaic trisomy 2 (46,XX/47,XX,+ 2). Selective fetocide was performed in one trichorionic-triamniotic triplet pregnancy in early gestation, which was followed by normal development of the remaining healthy dichorionic-diamniotic twins. In a monochorionic-diamniotic twin pregnancy with one affected fetus ultrasound surveillance showed the normal development of the unaffected twin. CONCLUSIONS: We present a large series of body stalk anomaly, including multiple gestations, with thoraco- and/or abdominoplacental attachment and without craniofacial defects. This specific phenotype may be explained by embryonic maldevelopment. The typical features of body stalk anomaly can be detected by ultrasound by the end of the first trimester, which is important for patient management. Consequently, this anomaly should be distinguished from other fetal abdominal wall defects.

Abdominal Wall↗

PubMed2003

Prenatal diagnosis of cardiosplenic syndromes: a 10-year experience.

OBJECTIVE: To assess the accuracy of fetal echocardiography in the prenatal diagnosis of cardiosplenic syndromes and the spectrum of associated anomalies. METHODS: This was a retrospective survey of fetuses in our databases over a period of 10 years with postnatally confirmed prenatal diagnosis of cardiosplenic syndromes. RESULTS: In 32 of 35 fetuses the prenatal diagnosis of cardiosplenic syndromes was confirmed postpartum. Twenty-two fetuses had left isomerism. Their main prenatal ultrasound features were interrupted inferior vena cava (n = 21), complete atrioventricular septal defect (n = 15), viscerocardiac heterotaxy (n = 15), persistent bradyarrhythmia (n = 12) and fetal hydrops or nuchal edema (n = 12). Twelve pregnancies were terminated, two fetuses were stillborn and eight infants survived. Ten fetuses had right isomerism. Their main sonographic features were juxtaposition of the descending aorta and inferior vena cava (n = 7), complete atrioventricular septal defect (n = 7), left persistent superior vena cava (n = 6) and viscerocardiac heterotaxy (n = 6). In this group there was one stillbirth, five infant deaths and four survivors. The overall survival rate and spectrum of other cardiac malformations were similar between the two groups. Prenatal diagnosis of other visceral features of cardiosplenic syndromes was inconsistent. CONCLUSION: Cardiosplenic syndromes can be diagnosed with high accuracy by prenatal sonography. A diagnosis of left isomerism should be strongly suggested in the presence of a combination of at least two of the following: (1) complete atrioventricular septal defect or other structural heart disease; (2) interruption of inferior vena cava with azygos continuation; (3) early fetal heart block; (4) viscerocardiac heterotaxy. Right isomerism should be suspected in the presence of a combination of at least two of the following: (1) structural heart disease, namely complete atrioventricular septal defect; (2) juxtaposition of inferior vena cava and descending aorta; (3) viscerocardiac heterotaxy.

Echocardiography↗

PubMed2002

The evaluation of cardiac biometry in major cardiac defects detected in early pregnancy.

The objective was to evaluate early cardiac biometry in fetuses with structural cardiac defects between 10 and 17 weeks of gestation using our normative data about fetal heart biometry. A retrospective case series, patients were selected from all cases with congenital heart disease diagnosed between 10 and 17 weeks of gestation in our prenatal unit between 1999 and 2000. A schematic sonographic examination, including nuchal translucency (NT) thickness measurements, was performed and was followed by fetal Doppler echocardiography. The transversal heart diameter, both ventricular dimensions, heart area, heart circumference, thoracic diameter, thoracic circumference, thoracic area, pulmonary trunk diameter and aortic diameter were measured and the cardiothoracic ratios were calculated. Doppler evaluation of the umbilical arteries, ductus venosus and umbilical vein was performed. Fetal karyotyping was obtained by amniocentesis or chorionic villous sampling. During the study period, 31 cases of congenital heart disease between 10 and 17 weeks of gestation were diagnosed. Of these, two fetuses presented with ectopia cordis and six with insufficient cardiac biometric measurements. In the remaining 23 fetuses, different complex abnormalities with a high rate of chromosomal abnormalities (91%) were present. Fetal heart biometry was normal in 22% and abnormal in 78%. NT thickness measurements were performed before 14 weeks of gestation and ten of 12 fetuses (83%) presented with an increased NT. Both fetuses with normal NT showed an abnormal fetal heart biometry. Venous Doppler evaluation was performed in 22 cases and 12 fetuses (55%) demonstrated an abnormal venous Doppler. There were ten fetuses (45%) with normal venous Doppler; in seven of these cases, fetal heart biometry was partly abnormal. This study shows the feasibility of first and early second trimesters' fetal echocardiography and the applicability of cardiac biometry in these instances. In this context, early fetal heart biometry and NT thickness measurements may be complementary methods for the prenatal diagnosis of some major congenital heart defects. In early pregnancy, some cardiac defects like tricuspid valve dysplasia, coarctation of the aorta, aortic stenosis, tetralogy of Fallot or pulmonary stenosis may already show similar changes in the relation of the diameters of the fetal heart and great arteries, as seen in the second trimester. Therefore, evaluating the different cardiac ratios may have a high diagnostic value in early pregnancy.

Body Weights and Measures↗