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Biomedical subjects

A Kustermann

Publications and source records attributed to A Kustermann.

At least 19 recordsLinked to original sources

Thrombophilia and fetal germinal matrix-intraventricular hemorrhage: does it matter?

Germinal matrix-intraventricular hemorrhage (GMH-IVH) in the fetus is very rare and the role of thrombophilia in its pathogenesis is unclear. We report on the prenatal diagnosis by magnetic resonance imaging of GMH-IVH in a 24-week fetus. The newborn presented posthemorrhagic ventriculomegaly and was found to be heterozygous for two thrombophilic patterns, factor V Leiden and methylenetetrahydrofolate reductase mutation. The combination of this hypercoagulable state and prenatal GMH-IVH is discussed together with the opportunity of testing these infants for thrombophilia.

Adult↗

Differences and similarities in the intra-uterine behaviour of monozygotic and dizygotic twins.

Diagnostic advances have made it possible to use ultrasonograph to assess placentation and therefore zygosity in utero in the case of monochorionic-monozygotic twins. Foetal behaviour of 15 monozygotic and 15 unlike-sexed dizygotic twin pairs was studied serially with ultrasounds from 10 to 22 weeks gestational age. Each twin, regardless of its zygosity, showed individualised behavioural styles. One twin was found to be 'dominant' in the sense of being more active, but less reactive, possibly due to the fewer stimuli being generated by its co-twin. Monozygotic twins, as opposed to dizygotic twins, showed greater similarities in activity and reactivity levels, but were never behaviourally identical and decreased in likeness with increasing age. Our data suggest that so-called identical twins are very similar, but not behaviourally identical, from very early in pregnancy. The unequally shared intrauterine environment contributes to putting each monozygotic twin on a progressively distinct behavioural path.

Birth Weight↗

Patterns of evoked behaviour in twin pregnancies during the first 22 weeks of gestation.

The objective of this work was to investigate the emergence of intrapair stimulation between twin fetuses and the presence of possible changes in types and percentage of evoked patterns with advancing gestational age. The existence of intrapair stimulation would indicate the functioning of fetal tactile and proprioceptive sensibility. This was studied from video recordings of 30 min ultrasonographic observations of 8 twin pregnancies at 8, 9 and 10 weeks gestational age, of 20 twin pregnancies at 11, 12 and 13 weeks and of 20 twin pregnancies studied with 60 min observations at 15-16, 18-19 and 21-22 weeks. All age groups were subdivided in Monochorionic (Mc) and Dichorionic (Dc) pregnancies. Intrapair stimulation before 11 weeks gestational age is an exceptional event. Due to greater spatial contiguity and thinness of the membrane dividing the two amniotic sacs in Mc pregnancies, it was noted only in these. From 12 weeks onwards, evoked movements began to be observed in Dc pregnancies as well. After the 15th week, intrapair stimulation is a constant and increasing feature of all twin gestations. Movements vary from generalized bodily activity to being progressively localized. No specific evoked movement patterns were observed.

Adult↗

Prenatal diagnosis of congenital varicella infection.

Fourteen fetuses at risk of Varicella-Zoster virus (VZV) infection underwent prenatal diagnosis at 10-24 weeks' gestation by a combination of chorionic villus sampling, amniocentesis, and fetal blood sampling. Polymerase chain reaction (PCR) was done on fetal and placental tissues, using primers which define a 221 bp region of the gene coding for the 44 kD protein of VZV. Positive cases were further analysed by dot blot hybridization, using radiolabelled DNA probes corresponding to the Hind III fragment VZV genome. The rate of placental/fetal infection was 36 per cent (5/14 fetuses: 2/11 in the first and 3/3 in the second trimester). At post-mortem examination, two aborted fetuses had hydrocephaly and VZV DNA was found in most of the examined tissues. The nine women who tested negative at prenatal investigation delivered healthy neonates whose VZV-specific IgM antibody titres were negative and none of them developed herpes zoster infection. In view of the high frequency of fetal VZV infection and the reported low rate of malformations, the role of invasive prenatal diagnosis in women who acquire the infection in the first half of gestation is mainly that of reassurance when the test is negative.

Amniocentesis↗

Aspects of fetal physiology from 18 to 37 weeks' gestation as assessed by blood sampling.

OBJECTIVE: To construct reference ranges for fetal pH, oxygen pressure (PO2), and hematologic and biochemical blood constituents, which can be used to analyze changes with gestation and differences with maternal values, thus elucidating some aspects of fetal biology and the effects of the maternal and placental environments. METHODS: We assayed venous pH, PO2, hematocrit, glucose, uric acid, urea, creatinine, total protein, total and direct bilirubin, aspartate aminotransferase, alanine aminotransferase, gamma-glutamyltransferase, alkaline phosphatase, lactic dehydrogenase, amylase, pseudocholinesterase, creatine kinase, triglycerides, and cholesterol concentrations in 157 fetuses and 134 mothers who underwent fetal blood sampling from 18 to 37 weeks' gestation. None of the fetuses was infected or had chromosomal, hematologic, or hormonal abnormalities. RESULTS: All the variables analyzed were similar in fetuses sampled at the placental cord insertion (n = 125) or at the intrahepatic vein (n = 32). Maternal and fetal concentrations of glucose (r = 0.79, P < .001), urea (r = 0.96, P < .001), creatinine (r = 0.83, P < .001), and uric acid (r = 0.94, P < .001) correlated significantly, and their differences exhibited significant changes: the maternal-fetal differences of glucose and urea increased, whereas those of uric acid and creatinine decreased with advancing gestation. Fetal pH and PO2 decreased with gestational age, whereas hematocrit increased, similar to what has been described previously. All of the other variables, with the exception of amylase and cholesterol, changed significantly during the investigated period of pregnancy. Gestational age explained at least 40% of the variance in values of fetal total protein, pseudocholinesterase, alanine aminotransferase, creatine kinase, and triglycerides, but only 3-25% of the variation in the remainder. Most enzymes were higher in the fetus than in the maternal circulation, and all except alkaline phosphatase increased with gestational age. The maternal-fetal glucose difference correlated significantly with hematocrit, pH, and PO2, independent of gestational age and independent of each other. CONCLUSION: With the exception of aspartate aminotransferase, all of the analyzed fetal variables were different from the maternal values, and most changed with gestational age. The mechanisms leading to these fetal specificities remain mostly uncertain, but the provision of reference ranges for several blood constituents may be useful in the differential diagnosis of fetal disease.

Adolescent↗

Measurements of fetal limb bones in early pregnancy.

The fetal humerus, radius/ulna, femur, tibia/fibula and foot were measured in 296 pregnant women at 64-108 days' menstrual age, using vaginal sonography. All limb measurements correlated significantly with gestational age and biparietal diameter independently. Ratios of limb segment lengths did not change with gestation. Reference ranges (mean and 95% data intervals) were constructed for each limb segment. These data may prove useful in prenatal diagnosis of skeletal dysplasias and in the antenatal assessment of patients at risk of chromosomal abnormalities.

Journal Article↗

Prenatal diagnosis of congenital human cytomegalovirus infection.

Fifteen fetuses at risk of congenital human cytomegalovirus (HCMV) infection underwent prenatal diagnosis at 16-30 weeks' gestation by a combination of amniocentesis and fetal blood sampling. HCMV was isolated from the amniotic fluid in six patients, but HCMV-specific IgM was detected in only three of them. Two of the nine neonates, who were delivered following a negative prenatal diagnosis, had congenital HCMV infection diagnosed by virus isolation in the urine. The interval from infection to prenatal testing was 3 and 4 weeks in the two false-negative cases and > or = 7 weeks in the true-positive cases. Although timely testing for HCMV infection allows the option of termination of pregnancy, it may be flawed by false-negative results.

Amniocentesis↗

Prenatal diagnosis of anatomical connections in conjoined twins by use of contrast magnetic resonance imaging.

Omphalopagus conjoined twins were diagnosed by ultrasonography in a pregnant woman at 21 weeks' gestation. In order to clarify the anatomical connections, magnetic resonance imaging (MRI) was performed, having achieved fetal paralysis by intravascular injection of 100 mg of pancuronium into each twin. Prior to MRI, 2 ml of a 0.0001 mmol/ml solution of gadolinium DTPA was also injected into the stomach of one twin. The contrast agent opacified the bowel loops of both twins, indicating bowel to bowel anastomosis. Following pregnancy termination, autopsy confirmed the prenatal diagnosis.

Abortion, Therapeutic↗

Prenatal treatment of congenital human cytomegalovirus infection by fetal intravascular administration of ganciclovir.

Ganciclovir was administered 'in utero' for 12 days in a 29-week-old fetus with ascertained congenital human cytomegalovirus (HCMV) infection, thrombocytopenia and elevated gamma-glutamyl transferase (gammaGT) value. Efficacy of therapy was shown by reduction in virus titer of amniotic fluid and fetal urine, disappearance of viral DNA in fetal blood, and normalization of platelet count and gammaGT value. However, stillbirth occurred at 32 weeks of gestation and HCMV inclusion bodies were detected in kidneys, lungs, heart and pancreas at autopsy. During therapy, side-effects,possibly related to ganciclovir administration, were observed.

Journal Article↗

Transvaginal sonography for fetal measurement in early pregnancy.

OBJECTIVE: To establish reference ranges for fetal size by gestation in the first trimester as indicated by cephalic, abdominal and limb measurements using transvaginal sonography. DESIGN: A prospective descriptive study. SETTING: Two antenatal clinics in Milan, Italy. SUBJECTS: 270 women with normal singleton pregnancies at 42-108 days gestation. All had regular cycles and certain dates. INTERVENTIONS: Vaginal ultrasound examination including inspection of fetal structures and lasting 5-15 min. MAIN OUTCOME MEASURES: As many of the following fetal measurements as possible according to gestational age and ease: crown-rump length (CRL), biparietal diameter (BPD), head circumference (HC), abdominal circumference (AC), femur and foot lengths. RESULTS: CRL was measured in 183 fetuses, BPD in 201, HC in 162, AC in 160, femur length in 133 and foot length in 62. The best description of the relation of CRL to gestational age was achieved by a quadratic function (y = -3.98 - 0.308x + 0.0117x2). Mean values thus derived were virtually identical to those obtained by Robinson & Fleming in 1975 with transabdominal static scanning. Fetal BPD, HC, AC and femur length correlated more closely with CRL than gestational age. Reference ranges (mean and 95% data intervals) were constructed for each biometrical measurement in relation to gestational age and CRL. The HC/AC and femur/foot length ratios did not show any significant variation with gestational age or CRL. CONCLUSIONS: These data may be useful in the early detection of genetic disorders affecting the growth of fetal head, trunk and limbs. Genetic and/or environmental variables play an appreciable role in the modulation of early fetal growth.

Abdomen↗

Foetal pulmonary maturation in pregnancies complicated by diabetes and Rh immunization.

In pregnancies complicated by diabetes, foetal lung maturation depends on a good control of maternal blood glucose values. In poorly controlled maternal diabetes, foetal hyperinsulinaemia may cause a delay in pulmonary maturation. There was no single case of respiratory distress syndrome (RDS) in 112 pregnant class B-F diabetic patients that we treated with high doses of insulin. Furthermore, in a controlled randomized trial of diet versus insulin treatment in class A diabetes we found no differences in perinatal mortality in patients with adequate metabolic control. In pregnancies complicated by Rh isoimmunization, determination of phosphatidylglycerol in amniotic fluid is a more reliable marker of foetal lung maturity than is the lecithin/sphingomyelin ratio. The marked decrease in perinatal mortality due to Rh incompatibility observed in recent years depends on several factors including administration of corticosteroids to the mother to prevent RDS, irrespective of whether amniotic fluid parameters indicate foetal lung maturity.

Blood Glucose↗

Perinatal management of fetal hydronephrosis with normal bladder.

This report covers 30 cases of prenatal diagnosis of uni- or bilateral hydronephrosis not associated with an overdistended bladder. Oligohydramnios was observed only in four cases while polyhydramnios occurred in three affected fetuses. In no case was fetal urine aspirated or drained prenatally. Early delivery was performed in four cases with oligohydramnios. Sixteen newborns required surgical correction of the lesion as it was confirmed by urography, following at least two sonographic examinations which confirmed a moderate to severe hydronephrosis after birth. The most frequent lesion was pyelo-ureteric junction obstruction (12 cases). Thirteen cases were normal at follow-up, and in two of these the dilation cleared up during intrauterine life. One case of severe hydronephrosis proved to be a multicystic kidney. In this series isolated hydronephrosis, both uni- or bilateral did not result in fetuses being at high risk for survival (only one infant died after surgery) nor as regards to associated malformations and perinatal morbidity. Provided a properly timed surgical correction was performed, renal function resulted to be good at follow-up.

Cesarean Section↗

Routine obstetric ultrasound: effectiveness of cross-sectional screening for fetal growth retardation.

Sonographic detection of fetal growth retardation was evaluated on a sample of 778 patients routinely scanned over a 16-month period. From the 29th week to term, the sensitivity of abdominal circumference measurement progressively increased from 41% to 88% (P less than 0.01). Higher rates were achieved by using the biparietal diameter but false-positive diagnoses were twice as frequent as with the abdominal measurements. When the limitations in precision of abdominal circumference were considered, the screening rate of this parameter increased about 16%. Moreover, 50% of the false-negative diagnoses were made on fetuses weighing between the fifth and 10th centiles at birth. These diagnostic indices for biparietal diameter and abdominal circumference evaluated on a retrospective series proved to be lower than those reported for the prospective selected series. However, the results yielded by routine ultrasound were better than those obtained with clinical or traditional biochemical methods. These findings underline the importance of sonography not only in serial control of high-risk pregnancies but also in cross-sectional screening programs.

Diagnostic Errors↗

The diagnostic value of perinatal ultrasound monitoring for foetal abdominal mass.

In the past two years seven cases of foetal abdominal mass were observed prenatally and operated on within 30 days of life. In four of seven cases no abdominal mass was ever palpable neither at birth nor under anaesthesia just before laparotomy, whereas in all cases it was both sonographically and surgically detected. The authors stress the importance of perinatal ultrasound monitoring to cope early with clinically undetectable abdominal mass. Furthermore, they emphasise that the necessary condition for definition of a mass should by now be that it is palpable and seen via ultrasound, but a perinatal ultrasound image of mass is sufficient to warrant careful detailed clinical evaluation.

Abdominal Neoplasms↗

Perinatal ultrasound monitoring: early detection and treatment of congenital uropathy.

In childhood, delay in the diagnosis of congenital obstructive or refluxing urinary tract pathology can contribute to progressive renal failure. Ultrasound examination is a safe and reliable means of investigating the urinary system pre- and post-natally. We describe 13 children investigated with ultrasound during the perinatal period. In 10, pathology was identified in utero, confirmed after birth and treated surgically within 1 month. This indicates that perinatal ultrasonography is a valuable technique.

Constriction, Pathologic↗

Effectiveness of routine ultrasound in screening congenital defects.

During one year 26 cases of fetal malformations were diagnosed by means of ultrasound alone at the 1st Department of Obstetrics and Gynaecology of the University of Milano. Frequency of congenital defects first detected in the Centre was 5.6% which can be estimated to be approx. 25% of the anomalies detectable at birth in an unselected population. The total number of congenital defects detected was 31. A wrong diagnosis was done in two suspected cephaloceles resulted to be a cystic hygroma of the neck and a nuchal cephaloematoma while a pleural effusion was misdiagnosed as a thoracic cyst. On the other hand a precise evaluation of diagnostic errors (false negatives) has not been possible. Most malformations not detected by scanning involved splanchnic organs rather than central nervous system (Tab. V). Ultrasonic procedures for measurement of fetal head and trunk could partly account for this result. Termination of pregnancy was performed in 4 cases and post-partum surgical correction in 3 (Tab. I). Antenatal diagnosis of fetal malformations should be then considered as a major end-point of routine US.

Amniotic Fluid↗

Changes in blood flow velocity waveforms following fetal blood sampling.

The umbilical artery, aorta, and middle cerebral artery pulsatility indices were investigated by pulsed Doppler ultrasound in 73 fetuses at 18-37 weeks of gestation, before and after fetal blood sampling performed either at the placental cord insertion (n = 46) or at the intrahepatic vein (n = 27). At the end of the procedure, after randomization, 35 fetuses were infused amounts of normal saline equal to the blood volume withdrawn, and 38 fetuses served as controls. Following blood sampling, the umbilical artery pulsatility indices decreased both in controls (p = 0.004) and in the saline group (p = 0.006). The middle cerebral artery velocity waveforms exhibited similar changes only in controls (p = 0.01), and no changes in fetal heart rate and aortic pulsatility indices were recorded in either group. The changes in blood flow velocity waveforms did not correlate with gestational age and the blood volume sampled, and were similar whether the site of sampling was the placental cord insertion or the intrahepatic vein. In 10 acidemic and/or hypoxemic fetuses, pulsatility indices in the umbilical and middle cerebral arteries were not modified by the blood sampling procedure. The release of vasoactive substances is most likely the cause of diminished vascular resistances following fetal blood sampling. Hypoxemic/acidemic fetuses may fail to mount a normal vasodilative response to needle puncture.

Aorta↗

[Twin pregnancy with acephalic acardiac fetus. Anatomo-clinical description of 2 cases].

Two cases are reported of acardiac-acephalic twin pregnancy, a rare malformation of multiple gestations with large placental vascular anastomosis. In both cases, respectively 25 and 30 weeks of gestation, ultrasound scan revealed a first normal fetus and a nonviable twin without cardiac activity and head, but increasing in size at serial scans. The authors describe the obstetric management, the Rx details and the anatomo-pathological findings emphasizing the analogies between the two acardiac fetuses.

Abnormalities, Severe Teratoid↗