Fetal skeletal malformations revisited: steps in the diagnostic approach.
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Biomedical subjects
Publications and source records attributed to I Meizner.
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UNLABELLED: The physiological changes occurring during pregnancy may be responsible for the faulty foot position leading to backache and lower limb pain. We evaluated the changes in the plantar foot pressures during pregnancy. Twenty-eight, full-term, healthy, pregnant women, average age 28 years, were examined and evaluated clinically, and the plantar foot pressure distribution was measured statically and dynamically using the EMED system. Twenty-eight, non-pregnant women, average age 25 years, served as the control group. In the static measurements, the pregnant women had significantly lower maximal forefoot pressures and higher hindfoot pressures than the non-pregnant women. The area of the foot in contact with the measuring pressure plate was greater in the pregnant women than in the non-pregnant women. In the dynamic measurements, the maximal force in almost every area of interest was significantly higher. The total force exerted on the pressure plate at the instant of maximal force of every area of interest during the whole step was higher in the pregnant group. On the medial side of the forefoot there was a slight decrease in the contact time of the maximal force. The peak pressures were higher in the midfoot of both feet and on the lateral side of the right forefoot in the pregnant women. In the medial side of the forefoot, the peak pressures were lower in pregnant women. CONCLUSIONS: The pregnant woman has a different pattern of gait. There is an increase of load on the lateral side of the foot and the hindfoot. These changes may be responsible for the musculoskeletal complaints of lower limb pain in pregnant women.
Despite the dramatic decline in maternal and perinatal morbidity and mortality over the past few decades, controversy still exists regarding the care of pregnant women with both pregestational and gestational diabetes mellitus. Carbohydrate intolerance is the most common metabolic complication of pregnancy. A review of the literature over the last two decades indicates that the incidence of gestational diabetes mellitus (GDM) varies from 0.15-12.3%. Between 0.2 and 0.3% of pregnancies occur in women with insulin dependent diabetes mellitus (IDDM). When not diagnosed and treated properly, diabetes in pregnancy is associated with adverse maternal and fetal outcome; such as high perinatal wastage, congenital anomalies, macrosomia, and neonatal, childhood and adult complications. The main problems regarding maternal-fetal outcome in pregnancy complicated by diabetes can be divided into three main categories: the pathophysiology of the metabolic state in pregnancy and its implications on the mother and the conceptus. This presentation dealing with feto-maternal outcome of these high risk pregnancies will discuss accelerated fetal growth, congenital anomalies, future obesity and diabetes in babies born to GDM and pre-GDM mothers and future maternal diabetes in GDM and vascular complications in pre-GDM. Our organized team approach combined with intensive monitoring and therapy throughout pregnancy which has achieved successful results in women with complicated diabetes will be presented.
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This study was undertaken to investigate intraovarian blood flow during the early follicular, periovulatory and mid-luteal phases, during spontaneous and stimulated ovarian cycles. Transvaginal ultrasonography with colour flow imaging was used to measure the pulsatility index in eight patients with spontaneous cycles, 20 patients undergoing induction of ovulation with clomiphene citrate and 11 patients undergoing controlled ovarian hyperstimulation for in-vitro fertilization (IVF)-embryo transfer with gonadotrophin-releasing hormone analogue, human menopausal gonadotrophin, human chorionic gonadotrophin. All patients were studied during the early follicular, periovulatory and mid-luteal phase. Intraovarian blood flow velocity waveforms were found in 20% of cases at the early follicular phase, in 56% during the periovulatory phase and in 85% during the mid-luteal phase (P < 0.001). Pulsatility index at the early follicular phase was found to be 1.05 +/- 0.22, during the periovulatory phase 0.99 +/- 0.22 and during the mid-luteal phase 0.85 +/- 0.22. The appearance of intraovarian flow velocity waveforms may suggest either ovarian neovascularization or final follicular maturation or luteinization, which can be detected or measured by Doppler technology.
OBJECTIVE: To evaluate the outcome of late selective fetal termination based on combined data from eight tertiary perinatal centres. DESIGN: Israeli law requires institutional committee approval for pregnancy termination. Moreover, after 24 weeks only a district superior committee can approve the termination. A total of 36 bichorionic twin pregnancies who underwent selective fetal termination after 24 complete gestational weeks were identified in eight Israeli centres. RESULTS: In 23 women (63.9%) the indication for selective termination was structural anomaly, and in 13 (36.1%) the indication was chromosomal abnormality. The mean gestational age at the time of diagnosis was 24.1 +/- 1.9 weeks. The termination procedure was performed at a mean gestational age of 25.5 +/- 2.0 weeks (median 25, range 24-33 weeks). There was one case of immediate procedure-related complication (i.e. amnionitis) and the unaffected infant died, which was the only perinatal death in this series. No evidence of coagulopathy was reported. Only five women (13.8%) delivered before 34 completed weeks. The mean gestational age at delivery was 36.9 +/- 2.9 weeks (28-41 weeks), and the mean procedure-to-delivery interval was 11.8 +/- 3.2 weeks (median 13, range 3-17 weeks). CONCLUSIONS: Late (> 24 weeks) selective termination in twin pregnancies is associated with favourable perinatal outcome of the healthy twin. In countries where the law permits late pregnancy termination, the parents should be informed of that possibility.
The prenatal diagnosis of skeletal dysplasias is often initiated by the finding of a shortened extremity during a routine sonographic examination. Second-trimester diagnosis of these anomalies allows the couple to consider the option of terminating a pregnancy when a lethal anomaly is detected. A 21-year-old Bedouin woman underwent routine ultrasonographic screening at 20 weeks' gestation. Severe micromelia, a narrow thorax with shortened ribs, and postaxial polydactyly were detected. The patient delivered a male dwarf at 20 weeks' gestation following prostaglandin induction of labour for a diagnosis of short-rib polydactyly syndrome type III. The prenatal ultrasonographic diagnosis of short-rib polydactyly syndrome type III was made at 20 weeks' gestation, allowing termination of the pregnancy. A proper sonographic approach to skeletal dysplasias allows both early detection and differentiation between lethal and non-lethal anomalies.
We present the first transvaginal first-trimester diagnosis of achondrogenesis type I confirmed by radiographic and histologic studies. The ultrasonographic signs included severe short limb mesomelic dwarfism, large head with decreased ossification, and lack of vertebral ossification.
OBJECTIVE: To establish sonographic criteria for an early prenatal diagnosis of cloacal exstrophy sequence, an extremely rare congenital malformation. METHODS: We assessed all cases of anterior midline abdominal wall defects occurring between November 1, 1986, and May 31, 1993. The charts of those with cloacal exstrophy sequence were reviewed thoroughly. The sonographic findings in each case of cloacal exstrophy sequence were evaluated and compared with the ultrasonic manifestations in other types of anterior abdominal wall defects. RESULTS: During the study period, six cases of cloacal exstrophy were diagnosed by ultrasound and confirmed by postnatal autopsy examination. Two of the cases were in different twin gestations. There were 58,288 deliveries during the study period; 665 (1.14%) major malformations were diagnosed ultrasonographically. Identical specific sonographic signs appeared in all six cases of cloacal exstrophy. These included a large infraumbilical, anterior midline defect, a protruding large omphalocele, an absent bladder, a narrowed thorax, a distorted spine, a large sacral meningomyelocele, and bilateral clubfeet. In all cases, the fetal bowel was floating in a large amount of ascites within the omphalocele sac. Polyhydramnios was present in four of the six cases. CONCLUSION: Based on our sonographic criteria, we believe that an accurate prenatal diagnosis of cloacal exstrophy sequence is feasible, even in the first trimester of pregnancy. These signs distinguish cloacal exstrophy from other types of midline anterior abdominal wall defects, ie, gastroschisis, amniotic band syndrome, and limb-body wall complex (body-stalk syndrome).
OBJECTIVE: To study the clinical course and perinatal outcome of twin pregnancies discordant for anencephaly, without selective termination. METHODS: We conducted a descriptive retrospective study of 14 cases of dichorionic twin pregnancies discordant for anencephaly, which were managed expectantly in five Israeli perinatal centers. RESULTS: None of the patients miscarried. The mean gestational age at delivery was 35.9 +/- 2.8 weeks (range 29-39). Only three patients (21%) delivered before 35 weeks' gestation. Polyhydramnios occurred in six of the anencephalic amniotic sacs. Nevertheless, most occurrences were mild and none necessitated therapeutic amniocentesis. The mean birth weight of the normal fetus was 2610 +/- 690 g (range 1100-3200). One apparently normal twin had a cardiac anomaly and died shortly after birth, and one was electively delivered at 33 weeks because of severe intrauterine growth retardation and subsequently developed cerebral palsy. The rest had normal short- and long-term outcomes. CONCLUSION: Expectant management of a twin gestation discordant for anencephaly diagnosed at the second trimester is associated with a favorable outcome for the unaffected fetus.
An intrathoracic homogeneous hyperechogenic mass diagnosed in the second trimester of pregnancy represents a challenge to the sonographer. A disappearance of such a finding is an enigma. We have recently encountered such a case in which a mucous plug obstructing a main bronchus was the causative factor. To the best of our knowledge, this is the first report of such an etiology in cases of vanishing fetal intrathoracic masses diagnosed by ultrasonography.
The objective of this study was to establish ultrasonographic guidelines for the prenatal diagnosis of fetal pelvic kidneys and assess the relationship to clinical outcome. The records of all ultrasonographic diagnoses of a fetal pelvic kidney between 1 January 1991 and 31 December 1993 were reviewed. After review of the sonographic evaluation, the prenatal records were obtained, to assess demographic data as well as the obstetric course and neonatal outcome. If a fetal pelvic kidney was suspected on prenatal ultrasound examination, its precise location and size were recorded and compared with neonatal sonograms. Twenty-six cases of fetal ectopic kidney were diagnosed of which 13 were on the right side and 13 on the left (24/26 cases were diagnosed in the late second trimester). The size of the ectopic kidney did not differ from that of the normal kidney. Except for one case of hydronephrosis, there were no associated structural anomalies. All prenatal diagnoses were confirmed by postnatal sonograms and all neonates had normal renal function. Our conclusions are that prenatal sonographic detection of fetal pelvic kidney is feasible, although in most cases the diagnosis is made beyond 24 weeks' gestation. The importance of prenatal diagnosis is that the parents can be reassured that normal renal function is highly probable and that early neonatal intervention is usually unnecessary.
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An increased spontaneous abortion rate has been observed in pregnancies preceding that of fetuses or newborn infants with neural tube defects (NTDs). There are 2 suggested explanations for this observation. One is that a trophoblastic cell rest, remaining from a previous aborted pregnancy, interferes with normal embryogenesis. The second is that the previous lost fetus was affected with NTD. We studied the obstetric history of mothers of newborn infants with NTDs compared to those with other birth defects, in low and high risk groups for NTD (Jew and Bedouins). A significantly higher spontaneous abortion rate (48%) in the preceding pregnancy was found in the NTD group compared to the group with other birth defects (20%). This was especially remarkable for spina bifida cases in the Jewish study population. A significantly higher rate of preceding spontaneous abortion was also found in congenital heart defects (CHD) when compared to other congenital malformations. A hypothesis based on the multifactorial threshold model is put forward to explain these findings. Based on the realization that spontaneous abortion constitutes a high risk factor for NTD and possibly also CHD, we recommend a delay of subsequent pregnancy and periconceptional treatment with folic acid following spontaneous abortion.
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Bartter syndrome, an autosomal recessive disorder of hyperaldosteronism and increased plasma renin, was suspected in an at-risk pregnancy due to the early occurrence of polyhydramnios. Further establishment of the diagnosis was accomplished by demonstrating increased levels of aldosterone in amniotic fluid and fetal cord blood. Electrolyte levels did not differ significantly from reported controls. It is thus suggested that polyhydramnios is the result of increased fetal urine output in Bartter syndrome and that amniotic fluid aldosterone is a reliable marker for the prenatal diagnosis of this condition.
Between November 1986 and April 1993, 22 cases of intrathoracic abnormality were detected prenatally by ultrasound, and examined postnatally. There were 11 cases of diaphragmatic hernia, 5 cases of cystic adenomatoid malformation of lung, one case of chylothorax, two cases of lung sequestration, and three cases of bronchogenic cyst. The total number of deliveries during that period was 48,281 and the total number of major anomalies at that time was 669 (1.38%). Cases of hydrothorax of various etiology, as well as thoracic cage anomalies were excluded. Prenatal diagnosis allows planned delivery and the assembly of neonatologists and pediatric surgeons.