Volume 33, Issue 3

Aims : The number of fetuses with an abnormal increased first trimester nuchal translucency (NT), but confirmed normal karyotype and anatomy is relatively small and therefore a challenge for prenatal counseling. Universal guidelines are still needed for a systematic work-up, how to decide on the rewarding cut-off for this policy as well as how to counsel patients with an increased NT but with euploid fetuses. The current review aims to address some of these issues. Results : Eleven studies reporting on the pregnancy outcome of 2,128 euploid fetuses with increased NT (≥3 mm or ≥95 centile) were retrieved by our previously reported literature search. 2.2–10.6% of the fetuses has miscarried and 0.5–15.8% ended in perinatal death. There was an overall rate of 0.5–13% neurodevelopmental problems, and 2–8% of the malformations were undiagnosed before birth, the most common being cardiac anomalies. Nevertheless, 70–90% fetuses had normal outcomes. Conclusion : For those euploid fetuses with increased NT >2 MoM or ≥1.5 mm delta NT we recommend a detailed two-step anomaly scan including midgestation fetal echocardiography. Maternal age as well as data on relevant family history and persistence of nuchal edema provides additional relevant information for counseling and planning pregnancy management.

Objective: The aim of this study is to identify suitable applications for cerebral MR (magnetic resonance) scanning in cases of severe preeclampsia and eclampsia through comparison of clinical course and easily accessible parameters. Methods: From January 2001 to December 2003, cerebral MR scans were performed on 43 women with severe preeclampsia; of those 41 were enrolled in data analyses. Twenty clinical parameters, including age, body mass index, blood pressure, liver and renal function, and coagulation status, were compared for each patient. Data were analyzed using the SPSS program on a VAX main frame. Results: Among 41 severe preeclamptic women, abnormal MR images were observed in 11 cases including six with systemic seizures. Predictive accuracy of eclampsia with abnormal cerebral MR imaging was 84.9% (P=0.00001), while only 14.3% of severe preeclampsia cases had been diagnosed radiologically. Statistical analysis suggests diastolic BP and serum AST as predictive parameters for abnormal MR images with 82.9% predictive accuracy (P=0.0007). Conclusions: Cerebral edema can be observed in preeclamptic patients developing eclampsia. Rapid delivery is indicated when diastolic BP and AST are elevated. MR scanning is useful when delivery is delayed due to fetal immaturityin cases of severe preeclampsia.

Because smoking during pregnancy is implicated in influencing appetite and impulse control in offspring, the aim of this study was to establish if it is associated with bulimia nervosa in offspring. Bulimia was identified at age 30 years among 4046 females, born 5–11 April, 1970. After adjustment for potential confounding factors including body mass index (BMI) and maternal psychiatric morbidity, smoking during pregnancy was associated with bulimia in offspring by age 30 years. Compared with non-smoking mothers, the adjusted odds ratios (95% confidence intervals) for bulimia in offspring were 0.74 (0.25–2.21) for those who gave up before pregnancy, 3.04 (1.16–7.95) for giving up during pregnancy and 2.64 (1.47–4.74) for smoking throughout pregnancy. Smoking during pregnancy was not associated with anorexia nervosa in offspring. Neither BMI nor variation between childhood and adult BMI explain the association. If the association of smoking during pregnancy with bulimia in offspring is causal, then it may operate through compromised central nervous system development and its influence on impulse or appetite control. The increased risk associated with mothers who gave up smoking during pregnancy emphasizes the importance of smoking cessation prior to conception.

Aim: Human chorionic gonadotropin (hCG) is produced by fetal trophoblast cells and secreted into maternal circulation mainly in the first trimester of pregnancy. Another glycoprotein, glycodelin A, is one of the main products of the maternal decidua during this period. The purpose of this study was to investigate the effect of glycodelin A on hCG release by isolated cytotrophoblast cells in vitro. Methods: Cytotrophoblast cells were prepared from human first trimester placenta and incubated with varying concentrations of glycodelin A. Supernatants were assayed for hCG protein concentrations, and quantification of beta hCG mRNA was carried out by RT-PCR. Expression of hCG was analysed in stimulated trophoblast cells and in unstimulated controls by immunocytochemistry. Results: Glycodelin A induces a dose-dependent increase of hCG production. An increase of hCG expression was measured at 100 and 200 μg/mL glycodelin-A treatment in trophoblast cell culture by TaqMan assay on mRNA level. We found a moderate staining of hCG in control trophoblast cells, whereas a strong hCG staining was seen in glycodelin A-treated trophoblast cells. Conclusions: HCG is a marker for the differentiation process of trophoblast cells. Our results suggest that glycodelin A secreted by the decidualized endometrium is involved in the regulation of hormones produced by the trophoblast.

Objective: To evaluate the relationship between umbilical artery pulsatility index and the umbilical cord pH in small-for-gestational-age fetuses. Methods: Data were collected from all pregnancies seen in our Fetal Surveillance Unit that underwent antenatal monitoring for being small-for-gestational-age beyond 24 weeks of pregnancy. A linear regression was used to analyse the effect of the umbilical artery pulsatility index (UAPI) and umbilical artery pH at birth, assessing interaction and controlling for clinically meaningful antenatal, Doppler, biophysical and perinatal variables. Results: A total of 117 pregnancies were included. According to the estimated model (which included all clinically significant confounders and statistically significant interactions), in cases with reactive cardiotography (CTG) a 1-unit increase in the UAPI resulted in a mean decrease of 0.021 (95% 0.05 to −0.005) units of umbilical artery pH at delivery. In the non-reactive CTG group a 1-unit increase in the UAPI resulted in a mean decrease of 0.02 (95% CI 0.059 to −0.019) units of umbilical artery pH at delivery. Finally, in fetuses with a pathological CTG a 1-unit increase in the UAPI resulted in a mean decrease of 0.149 (95% CI 0.107 to 0.19) units of umbilical artery pH at delivery. Conclusions: The crude effect between umbilical artery velocimetry on umbilical artery pH at birth has to be interpreted with caution, since an important part of this effect is related to other factors that confound and modify the relationship. After controlling for confounders, it was only in fetuses with pathological CTG that the effect remained statistically significant.

Objective: To examine the hemodynamic values of the renal artery (RA) and descending aorta (DA) in normal fetuses, and to compare these values to those of fetuses with renal disease, thus evaluating the usefulness of hemodynamic analysis for the diagnosis of fetal renal disease. Materials and methods: We examined 46 normal fetuses and 15 fetuses with renal disease (six cases of polycystic kidney (PCK) and nine cases of hydronephrosis). We measured the maximum systolic velocity (V max ) of the RA and DA using color Doppler. Measurements were made five times, from the 20th to the 40th week, in both the control and the renal disease group. Results: In the fetuses with PCK (Potter's syndrome) that died postpartum from non-functional kidneys, the V max of the RA and DA in the 35th week were 13 cm/s and 25.4 cm/s, respectively. In the fetus with PCK (Trisomy 9) that died due to non-functional kidneys in the 34th week, the values were 13.3 cm/s and 29.6 cm/s, respectively. These values were well below those of the normal group: more than 1.5 SD below the mean. In two fetuses from the nine with hydronephrosis that had a unilateral non-functional kidney, the RA did not clearly show identifiable blood flow. Conclusions: The V max of the RA and DA in fetuses with renal disease correlates with fetal kidney function, particularly the RA V max . V max of 1.5 SD below the mean should be the lower normal limit.

Aim: To compare echocardiographic findings of infants of diabetic mothers (IDMs), macrosomic infants of nondiabetic mothers and healthy full term appropriate-for-gestational-age (AGA) infants. Methods: Included in this study were 83 infants, admitted to our Neonatology Unit. Thirty-three IDMs, including both macrosomic and nonmacrosomic, comprised Group A, 25 macrosomic infants of nondiabetic mothers comprised group B, and 25 healthy full term AGA infants comprised group C. Echocardiographic measurements were performed in the first three days after birth and compared by using one-way ANOVA, Post Hoc Tukey HSD and Student's t tests. Results: The left ventricular end-systolic/left ventricular end-diastolic diameter ratio of group A was significantly smaller than that of group C (P<0.05). The interventricular septum/posterior wall thickness ratios of groups A and B were greater than those of group C (P<0.05). The left ventricular mass index of group A was greater than those of groups B and C (P<0.05). The shortening fraction and ejection fraction of group A were increased in comparison to group C (P<0.05). When comparing the values of echocardiographic measurements of macrosomic IDMs (n=9) with nonmacrosomic ones (n=24), and infants of pregestational diabetic mothers (n=11) with those of gestational diabetes mothers (n=22), no statistical difference was found. Conclusion: The present study suggests that underlying mechanisms common to both macrosomic infants of nondiabetic mothers and IDMs lead to less cardiac alterations in the macrosomic infants of nondiabetic mothers than in IDMs.

Aims and methods : To determine obstetrical and neonatal outcomes in referrals of apparently isolated mild ventriculomegaly following routine ultrasound scan, over the period 2001–2003. Specialist ultrasound and other investigations were performed. Neonatal examination and postnatal ultrasound findings were collected and local neurodevelopmental follow-up was obtained. Results : 30 cases of suspected isolated mild ventriculomegaly (posterior horn of lateral ventricle 10–15 mm at diagnosis) were identified. There were two abnormal karyotypes, no abnormal TORCH screens, and only one false-positive alloimmune thrombocytopenia screen. In 21 cases, isolated ventriculomegaly was confirmed following specialist investigation. In 11 of 21 cases, ventriculomegaly resolved during antenatal follow-up, and in one case it progressed. Six of 21 had ventriculomegaly confirmed on postnatal ultrasound and lissencephaly was diagnosed in one following postnatal MRI. Of the 11 infants with antenatal resolution of ventriculomegaly, 2 have delayed development. The infant with progressive ventriculomegaly has severe developmental problems.

Objective: To evaluate the inter- and intra-observer agreement of visual analysis of fetal heart rate tracing and to evaluate the bias introduced by knowledge of perinatal outcome in this interpretation. Methods: One hundred tracings were independently analyzed by four observers. In a second study period, two observers re-analysed the 100 tracings in order to evaluate intra-observer agreement. The other two observers re-analyzed the tracings, which were labelled with fictitious perinatal outcome to evaluate the impact of this information on reliability. Agreement was analyzed by means of the proportion of agreement for qualitative parameters and the inter- and intra-class correlation coefficient for quantitative data. Results: Poor agreement was found for quantitative variability, low variability category and number of decelerations. Moderate agreement was observed for baseline, normal variability category and number of accelerations. Fetal heart rate variability and number of accelerations and decelerations were found to be significantly influenced by clinical information of perinatal outcome. Biased observers showed lower reliability than unbiased ones. Conclusion: Visual assessment of fetal heart rate tracings is unreliable due to low rates of agreement between and within observers. Only qualitative classification such as normal baseline and normal variability showed good agreement. Knowledge of clinical information introduces subjectivity to the visual analysis, leading to a negative impact on reliability.

Aims : Neonatal screening programs perform different screening tests on the same blood-spot sample collected on a Guthrie card. We retrospectively investigated the incidence of multiple positive results as well as the outcomes and the physical characteristics of newborns with more than one positive result for phenylketonuria (PKU), congenital hypothyroidism (CH) and congenital adrenal hyperplasia (CAH). Methods : Neonatal screening was performed on blood-spot for PKU (phenylalanine concentration by fluorescent ninhydrine method), for CH (simultaneous total thyroxin (tT4) and thyroid-stimulating hormone (TSH) levels by fluoroimmunometric assay); and for CAH (17-hydroxyprogesteron level by fluoroimmunometric assay). Results : During three years of screening, 39 newborns (37 preterms) showed multiple positive results at screening tests (incidence 1:6387). The most frequent positive results were the combinations of CH and CAH (25/39) and PKU and CH (12/39). At recall, only two newborns were confirmed positive and each for only one disease: one, premature baby, for PKU from the PKU and CH combination; the other, born at term, for CAH from the CH and CAH combination. Conclusions : Multiple positive results are a rare observation at neonatal screening for PKU, CH and CAH, more frequently observed in preterm babies. However, multiple positive results must not be overlooked because of true positive results at recall.

Aims: Thrombocytopoiesis was investigated in term newborns determining thrombopoietin (TPO), reticulated platelets (PLRET) and blood platelets (PLT) in relation to gender. Patients and methods: The study was undertaken on 72 healthy term newborns, 33 girls and 39 boys. They fitted all criteria for healthy term newborns. Blood was collected from the umbilical vein immediately after cutting the umbilical cord. The evaluation of thrombocytopoiesis was performed by the following methods: TPO–Quantikine human TPO kit, PLRET– Retic-Count kit, PLT– Advia™ 120 hematology System. Results: Concentrations of TPO and percentages of reticulated platelets were greater in the female group than in the male group. The changes were not statistically significant, perhaps as a result of the very wide range of parameters tested. The blood platelet count was higher in female newborns than in male newborns, P<0.001. Conclusion: The data may indicate that thrombocytopoiesis is more active in female than in male newborns.

Objective : To present the microbiological and clinical features of six children with infected cephalohematomas (IC) caused by anaerobic bacteria. Design : Presentation of a case series. Results : Polymicrobial infection was present in all instances, where the number of isolates varied from two to four. Two patients had anaerobes only and the other four had mixed flora of strict anaerobes and facultatives. There were 16 bacterial isolates (12 anaerobic, 4 aerobic). The anaerobic isolates were Peptostreptococcus spp. (5 isolates), Prevotella spp. (4), Bacteroides fragilis group (2), and Propionibacterium acnes (1). The aerobic isolates were E. coli (2), Staphylococcus aureus (1) and group B streptococci (1). Blood cultures were positive for three patients. The most common predisposing conditions were vacuum extraction and amnionitis (4 instances of each), instrumental delivery (3), electronic fetal monitoring (2), prolonged delivery (1), and premature rupture of membranes (1). All patients underwent drainage, and four also had surgical incision and drainage of the IC. Osteomyelitis developed in one instance and scalp abscess developed in two patients, both of whom had electronic fetal monitoring. All patients eventually recovered from infection after receiving parenteral and subsequent oral antibiotic therapy for a total of 14–38 days. Conclusion : This study highlights the polymicrobial nature and potential importance of anaerobic bacteria in IC in newborns.

Background: The effects of meconium-stained amniotic fluid (MSAF) on cord blood endothelin-1 (ET-1) concentrations have not been explored. Objective: The aim of this study was to verify whether MSAF influences ET-1 cord blood concentrations in healthy term neonates. Methods: Using an enzyme-linked immunosorbent assay, plasma ET-1 concentrations were determined in 30 healthy term neonates with MSAF, and in 15 healthy term neonates without MSAF. The two groups were of the same gestational age, weight, Apgar score, cord blood pH, base excess, and hematocrit values, as well as systolic and diastolic blood pressures. Results: ET-1 plasma concentrations were not significantly different between the two groups and did not correlate with cord blood pH or base excess values. Conclusion: Our data demonstrate that meconium passage does not induce ET-1 secretion.

We report a newborn with fetal alcohol syndrome with severe feeding intolerance and failure to thrive due to pyloric stenosis. This illustrates the importance of early recognition of pyloric stenosis in fetal alcohol syndrome to improve nutrition and growth. We speculate that pyloric stenosis in neonates results from the absence or immaturity of intrinsic nitric oxide synthase-containing neurons in the pyloric muscle in children of alcohol-addicted mothers.

Bernard-Soulier syndrome is a rare autosomal recessive bleeding disorder characterized by platelet dysfunction, the presence of giant platelets, and a prolonged bleeding time. Absent or reduced expression of the platelet glycoprotein (GP) Ib-IX receptor results in the Bernard-Soulier syndrome and is characterized by severe bleeding and macrothrombocytopenia. To our knowledge only ten pregnant patients with this disease have been previously reported. In some patients the pregnancy course was uneventful while in others post-partum hemorrhage and resulting hysterectomy was the most common complication. We present a primiparous female with Bernard-Soulier syndrome who had delayed post-partum hemorrhage and review the literature.