Diagnostic anténatal d’une sirénomélie

Bilateral ulnar agenesis is a rare abnormality. A total of 36 cases are analyzed: 35 of these are documented in the literature and 1 stillborn male is presented in this study. Most patients had one of the three conditions: Al-Awadi/Raas-Rothschild syndrome, syndrome of ulnar aplasia with split hand/split foot deformity, or the Brachmann-de Lange syndrome. Fifty percent of all cases with bilateral ulnar agenesis were associated with lower limb defects and these cases, for the most part, also belonged to the aforementioned syndromes. Nonskeletal, internal organ malformations were identified in 34% of all patients. Nine patients presented with isolated bilateral ulnar agenesis. The Al-Awadi/Raas-Rothschild syndrome and the split hand/split foot deformity are heritable disorders. There was no evidence for genetic etiology in most of the other cases. Bilateral ulnar agenesis in our fetus was part of the Brachmann-de Lange syndrome with associated cardiac defect, diaphragmatic hernia, and umbilical artery agenesis.

Background:trans unsaturated fatty acids are thought to interfere with essential fatty acid metabolism. To extend our knowledge of this phenomenon, we investigated the relationship between trans isomeric and long-chain polyunsaturated fatty acids (LCPUFA) in mothers during pregnancy and in their infants at birth. Methods: Fatty acid composition of erythrocyte phosphatidylcholine (PC) and phosphatidylethanolamine (PE) was determined in Spanish (n = 120), German (n = 78) and Hungarian (n = 43) women at the 20th and 30th week of gestation, at delivery and in their newborns. Results: At the 20th week of gestation, the sum of trans fatty acids in PE was significantly (p < 0.01) lower in Hungarian [0.73 (0.51), % wt/wt, median (IQR)] than in Spanish [1.42 (1.36)] and German [1.30 (1.21)] women. Docosahexaenoic acid (DHA) values in PE were significantly (p < 0.01) higher in Hungarian [5.65 (2.09)] than in Spanish [4.37 (2.60)] or German [4.39 (3.3.2)] women. The sum of trans fatty acids significantly inversely correlated to DHA in PCs in Spanish (r = –0.37, p < 0.001), German (n = –0.77, p < 0.001) and Hungarian (r = –0.35, p < 0.05) women, and in PEs in Spanish (r = –0.67, p < 0.001) and German (r = –0.71, p < 0.001), but not in Hungarian (r = –0.02) women. Significant inverse correlations were seen between trans fatty acids and DHA in PEs at the 30th week of gestation (n = 241, r = –0.52, p < 0.001), at delivery (n = 241, r = –0.40, p < 0.001) and in cord lipids (n = 218, r = –0.28, p < 0.001). Conclusion: Because humans cannot synthesize trans isomeric fatty acids, the data obtained in the present study support the concept that high maternal trans isomeric fatty acid intake may interfere with the availability of LCPUFA both for the mother and the fetus.

Caudal regression syndrome (CRS) or sacral agenesis is a rarely seen malformation with a varying degree of structural abnormalities, including multiorgan system dysfunctions, reported with higher incidence among children of mothers with diabetes, as in this case. Spinal anomalies can range from coccyx hemiagenesis to the total absence of lower lumbar vertebrae and sacrum in most severe cases. Herein, we have presented a 9-year-old patient with CRS who had renal failure. Technetium-99m dimercaptosuccinic acid renal scintigraphy revealed bilaterally non-functioning kidneys with no renal cortical uptake. Renal anomalies in CRS with vertebral, anorectal, cardiac, trachea-esophageal, renal, and limb anomalies association include one-sided renal agenesis, multicystic dysplastic kidneys, and ureter duplications.

The aim of the study was to assess the value of the today's appropriate approach, preterm delivery in the 34th week of gestation by Caesarean section and subsequent surgical intervention at the perinatal center, in daily practice of pediatric surgery with regard to early postoperative and mid-term outcome. Over the time period of 9 years, all consecutive cases diagnosed with gastroschisis at the perinatal center, University Hospital of Magdeburg, were born by Caesarean section within the 34th week of gestation followed by surgical intervention. The registered data were compared with those published by other groups. Overall, there were 19 cases through the investigation period from 01/01/2006 to 12/31/2014. The mean duration of gestation was 237.9 days. The mean birth weight was 2,276 g. In all individuals, a primary closure with no artificial material was achieved. The duration of postoperative artificial respiration was 2.3 days. Oral uptake could be initiated on the 10th postoperative day on average. The mean hospital stay was 37 days. There was no lethality. As complications, postoperative (iv catheter-associated) sepsis occurred in one case and relaparotomy became necessary in a further case because of no possible completion of enteral nutrition by 20 days after primary closure (complication and relaparotomy rate, 10.5% and 5.26%, respectively). The data indicate that in case of gastroschisis, primary closure can be more frequently achieved by section within the 34th week of gestation. Under the prediction of an optimal neonatological care, the risks of a preterm delivery by a planned section appear to be manageable.

Objective: The aim of this study was to derive reference charts between the 15th and 20th week of gestation for biparietal diameter (BPD), occipito-frontal diameter (OFD), head circumference (HC), abdominal circumference (AC) and femur length (FL) compared to commonly used curves and to evaluate the impact of maternal body mass index (BMI), ultrasound equipment, fetal gender and nicotine abuse. Methods: In a cross-sectional study of 4,265 low-risk pregnancies, biometric data were obtained between the 15th and 20th week of gestation. The statistical analysis included descriptive data, fitting regression curves for the 5th, 50th and 95th quantile as well as multivariate quantile regression analyses. Results: Reference curves for BPD, OFD, HC, AC and FL showed a linear increase between the 15th and 20th week of gestation. New equations and reference charts are presented in this study. In a comparison of influence factors sex, BMI and ultrasound systems have an impact. Conclusion: As a result of the study, we determined current growth curves for BPD, OFD, HC, AC and FL for both sexes as well as for males and females separately. The updated growth curves for all biometric parameters differ from the curves used commonly in the last two decades.

Purpose: To correlate fetal outcome and placental histology of fetuses with umbilical cord Doppler S/D-ratios below the 5th percentile. Design and Methods: Among a total of 4000 fetuses 180 showed an umbilical Doppler resistance index below the 5th percentile, 250 above the 95th percentile and 3,650 within the normal range. We obtained 1-4 individual measurements per case. Results: Among 180 fetuses with low fetoplacental impedance we found in 68 (38%) growth retardation, in 36 (20%) premature delivery and in 30 (17%) the need for Caesarean section for fetal asphyxia. In cases with elevated S/D-ratio these figures were 125 (50%), 98 (39%) and 50 (20%), respectively. These amounts differed significantly from the reference group. If low impedance was detected before the 28th week of gestation (66 cases), we observed growth retardation in 40 cases (60%), in 22 (30%) premature delivery and in 16 (25%) cesarean section for fetal asphyxia. In cases with elevated S/D-ratio before 28th week of gestation (n=40) these figures were 33 (80%), 22 (55%) and 20 (50%), respectively. If low impedance occurred later (114 cases), the figures were 28 (25%), 14 (12%) and 14 (12%), respectively. In cases with high impedance after the 28th week (210 cases) these figures were 93 (44%), 75 (36%) and 30 (14%), respectively. This was also statistically significant. From the placentamorphological point of view low fetoplacental impedance reflects accelerated villus maturation whereas high impedance represents retarded maturation of the villus tree. Conclusion: There is some evidence that strikingly low umbilical resistance indices, assumed to demonstrate a particularly good fetal blood supply, may also indicate a placental compensatory phenomenon due to imminent placental insufficiency with the need for more intensive fetal surveillance, especially if this flow pattern is observed before the 28th week of gestation.

Annals for Educators - 21 August 2018.

The incidence of cardiac arrhythmias is estimated et 1.2 per 1000 pregnancies, usually in the third trimester and 50% of them are asymptomatic. They may appear for the first time in pregnancy or have a recurring character An important risk factor related to their appearance is the presence of structural heart disease, which complicates < 1% of pregnancies. Generally the symptoms are mild and the treatment is not necessary but in some cases pharmacotherapy is necessary Pharmacotherapy must be a compromise between the potentially adverse effects of drugs on the fetus and the beneficial effects on the cardiovascular system of the mother. Due to the development of cardiac surgery many women with heart defects reach reproductive age and become pregnant. Therefore this problem will be faced more and more often in clinical practice. In addition to pharmacological methods some cardiac arrhythmias may require urgent, life-saving procedures. External electrical cardioversion is associated with the application of certain amount of energy via two electrodes placed on the thorax. It is used to treat hemodynamically unstable supraventricular tachycardias, including atrial fibrillation and atrial flutter Also in hemodynamically stable patients in whom drug therapy was ineffective elective electrical cardioversion can be use to convert cardiac arrhythmia to sinus rhythm. We present a case of a 33 years old patient with congenital heart disease surgically corrected in childhood who had first incident of atrial flutter in pregnancy. Arrhytmia occured in 26th week of gestation. The patient was hemodynamically stable and did not approve electrical cardioversion as a method of treatment therefore pharmacotherapy was started. Heart rate was controled with metoprolol and digoxin, warfarin was used to anticoagulation. Calcium and potassium were also given. Described therapy did not convert atrial flutter to sinus rhythm therefore in 33rd week of gestation after patient's approval electrical cardioversion was performed. Before cardioversion transesophageal echocardiogram was made to exclude the presence of thrombus inside atria. Energy of 50J was applied and sinus rhythm was restored. Cardiotocography during and after cardioversion did not show any significant fetal heart rate changes. Further pregnancy and puerperium were uneventful. Case report and review of the literature about cardiac arrhytmias and methods of its treatment especially in pregnant women. Analysis of medical documentation of the patient treated in the Department of Cardiology as well as in the Department of Obstetrics and Perinatology Medical University of Lublin. Review of abstracts and papers in the Medline database about heart arrhytmias occuring during pregnancy methods of their treatment, with special refference to electrical cardioversion. Pregnancy is a condition which predisposes to cardiac arrhytmias. It is associated with changes in cardiovascular system of pregnant women that appear physiologically They can be effectively treated with low risk for mother and fetus. Electrical cardioversion is an effective and safe method of therapy of supraventricular arrhytmias also during pregnancy The adaptation of the maternal hemostasis in pregnancy predisposes women to an increased risk of thromboembolism therefore anticoagulant therapy is essential to minimize the risk of embolic episodes and stroke during elective cardioversion. Pregnant women with structural or functional heart diseases should be under supervision of multidiscyplinary team of specialists (obstetricians, cardiologists, neonatologists, pediatricians).

Observational and intervention studies have reported inconsistent results of the relationship between polyunsaturated fatty acids (PUFAs) and hypertension during pregnancy. Here, we examined maternal plasma concentrations of n-3 and n-6 PUFAs between the 26th and the 28th week of gestation in relation to blood pressures and pregnancy-associated hypertension.We used data from a birth cohort study of 751 Chinese, Malay, and Indian women. Maternal peripheral systolic blood pressure (SBP) and diastolic blood pressure (DBP) were taken from the brachial arm, and central SBP and pulse pressures (PPs) were derived from radial artery pressure waveforms between the 26th and the 28th week of gestation. Pregnancy-associated hypertension (including gestational hypertension and preeclampsia) was ascertained from medical records. Plasma phosphatidylcholine n-3 and n-6 PUFAs were measured by gas chromatography and expressed as percentage of total fatty acids.Peripheral SBP was inversely associated with total n-3 PUFAs [-0.51 (95% confidence interval, CI, -0.89 to -0.13) mm Hg] and long-chain n-3 PUFAs [-0.52 (CI -0.92 to -0.13) mmHg]. Similar but weaker associations were observed for central SBP and PP. Dihomo-γ-linolenic acid was marginally positively associated with peripheral SBP, central SBP, and PP, whereas linoleic acid and total n-6 PUFAs showed no significant associations with blood pressures. We identified 28 pregnancy-associated hypertension cases, and 1% increase in total n-3 PUFAs was associated with a 24% lower odds of pregnancy-associated hypertension (odds ratio 0.76; 95% CI 0.60 to 0.97). Maternal ethnicity modified the PUFAs-blood pressure relations, with stronger inverse associations with n-3 PUFAs in Chinese women, and stronger positive associations with n-6 PUFAs in Indian women (P values for interaction ranged from 0.02 to 0.07).Higher n-3 PUFAs at midgestation are related to lower maternal blood pressures and pregnancy-associated hypertension in Asian women, and the ethnicity-related variation between PUFAs and blood pressures deserves further investigation.

We report on a 22-year old patient who received a cadaveric renal transplant following haemodialysis treatment for five months due to endstage chronic glomerulonephritis. 14 months after successful transplantation while on stable renal function (serum-creatinine 1.0-1.4 mg%) the patient became pregnant. As an immunosuppressive therapy the patient got cyclosporine A and cortisone. The monitoring of the immunosuppressive therapy (Cyclosporine A) was performed by daily measurement of serum concentration by radioimmunoassay. Drug administration was adjusted to maintain serum levels of 250-550 ng/ml. Increased dosages were required from 25th week until delivery. Until the 25th week of gestation the pregnancy was uncomplicated from both the nephrological and obstetrical points of view. At the 25th week of gestation the patient became anuric. This was caused by a postrenal failure due to the compression of the transplantar ureter by the pregnant uterus. Nephrostomy was installed and was used until the end of pregnancy. In the third trimester the foetus showed growth retardation. For this reason a Caesarean section was necessary at the 36th week of gestation. A healthy boy was delivered weighing 2080 g and measuring 45 cm. No congenital malformations were observed, the chromosomal analysis showed no aberrations. After the delivery cyclosporine concentrations in the blood of the mother and the newborn were simultaneously measured. A remarkable difference in these concentrations was observed particularly in the mother's blood 864 ng/ml whereas in the baby's blood the concentration was 312 ng/ml. Three days after the delivery the patient was able to urinate normally so that the nephrostomy could be removed.

It is estimated that 20 to 35 per cent of idiopathic microcephaly is hereditary. Common practice dictates that after the birth of such a case, subsequent pregnancies should be monitored ultrasonographically in order to facilitate early antenatal diagnosis, and thus genetic counselling. Two cases are reported to indicate the difficulties encountered. In case 1 head growth appeared to be normal until the 20th week of gestation and then slowed down to 31 cm at birth. In case 2 head growth proceeded normally until the 28th week of gestation; at birth it was 32 cm and over the succeeding months became markedly microcephalic. The accuracy of various ultrasonographic techniques is reviewed, and the limitations are discussed. In the light of these findings it is concluded that reliable prenatal diagnosis of hereditary microcephaly is not available as yet.

Background: The sacral region in the fetus can be involved in many pathologies such as spina bifida as the most common spinal abnormality and caudal regression syndrome. On this basis, knowledge about the temporal sequences of sacral ossification centers appearances and other characteristics including bi-iliac distance with newer higher resolution ultrasound technique may be helpful in defining pathologies involving the sacral region and fetal skeletal maturation. Objectives: The goal of this research was to evaluate the timing of ossification of sacral vertebrae and bi-iliac distance as a guidance for clinicians to make an early and reliable diagnosis of sacral region anomalies such as caudal regression syndrome. Patients and Methods: This cross-sectional study was done on 315 normal pregnancies at 14 to 25 weeks of gestational age. The sacral region was evaluated in spine up position, on a coronal plane. By changing the orientation of the probe between sagittal and coronal planes and continuous observation, presence of the ossification center could be confirmed. Then, the level of the central and neural arch centers was recorded in every gestational age. Results: Ossification happened in a predictable caudal direction pattern. S1 and body of S2 were visualized in all cases at 15 - 17 weeks + 6 days and all fetuses with 17 weeks of gestational age. The body of S3 was detected in all cases at 17 weeks and its arch at 20 weeks. Studying all fetuses at 18 weeks of gestation shows sacral ossification in the body and arch of S4. During the study period we had two cases with sirenomelia and three cases with sacral agenesis and we have explained their sacral region findings. Conclusion: By using recent high-resolution ultrasound machines, sacral vertebral ossification centers could be identified in its early gestational age, which could be helpful for earlier detection of sacral pathologies.

Transvaginal color doppler assessment of uteroplacental circulation in normal and abnormal early pregnancy

Full monosomy 21 is an extremely rare chromosomal disorder. A 38-year-old woman attended a first trimester scan. Ultrasound (U/S) imaging of the fetus at 12 weeks of gestation showed features of increased nuchal translucency measurement (12 mm). Chorionic villi sampling (CVS) was performed after genetic counseling. At 16 weeks of gestation the fetus showed U/S characteristics of severe intrauterine growth restriction, generalized edema and hydrothorax. Cytogenetic examination was performed using quantitative fluorescent polymerase chain reaction analysis, standard Giesma banding and fluorescent in situ hybridization analysis. Non-mosaic full monosomy 21 was detected and the parents opted to terminate the pregnancy. Microsatellite analysis demonstrated maternal origin of the single chromosome. This case represents one of the few cases of prenatally diagnosed full monosomy 21 confirmed only by CVS, in which the parental origin of the single chromosome was determined.

Modifiable cardiovascular risk factors (CVRF) are highly prevalent in SubSaharan African communities. In these countries the burden of CVRF during early pregnancy has been poorly documented. The objective of this study was to describe the frequency of CVRF in pregnant women before the 20th week of gestation in Benin. Consecutive pregnant women with a gestational age < 20th week were included in 30 maternity clinics in Benin. Univariate and multivariate analyses were used to determine characteristics associated with CVRF. 1244 pregnant women were included (680 (54.7%) in urban areas and 584 (45.3%) in rural areas). The median age was 26 years. The frequencies of high blood pressure (HBP), obesity and diabetes were 18.9%, 15.0% and 3.1% respectively. Very few women (25.3%) were aware of the HBP disorder. HBP was associated with an age ≥ 35 years (OR = 1.7, 95%CI:1.1-2.7), a rural setting (OR = 2.6; 95%CI:1.9-3.5), an insufficient consumption of fruits and vegetables (OR = 3.2; 95%CI:2.0-5.3) and a history of at least 2 fetal losses (OR = 1.9; 95% CI [1.4-2.7]). The risk of being overweight was associated with an age >24 years old (OR = 1.6; 95%CI:1.1-2.2) conversely a rural setting was protective (OR = 0.7; 95%CI:0.5-0.9). Obesity was associated with an age > 35 years old (OR = 4.1; 95%CI:2.5-6.8) and a rural setting (OR = 0.3; 95%CI: 0.2-0.5). The frequency of CVRF in women before 20th week of gestation was high. Most of the women were unaware of the disorder. Thus the screening of CVRF among women of reproductive age might be relevant.