Femoral-facial syndrome: Prenatal diagnosis and clinical features. Report of three cases.

The objective of our article is to illustrate the earliest prenatal sonographic diagnosis of femoral-facial syndrome (FFS) and to illustrate the spectrum of clinical manifestations of this condition. We present serial sonographic evaluation with 3D evaluation in two fetuses diagnosed prenatally with FFS and the postnatal findings in three patients (one fetus following pregnancy interruption and two newborns one of whom was diagnosed prenatally) with FFS. The two patients with prenatally diagnosed FFS were found to have femoral shortening and characteristic facial features, one 12 weeks of gestation, and one at 15 weeks of gestation. The sonographic findings in the two prenatally diagnosed patients were confirmed after delivery. We also present a third patient who was diagnosed at delivery in whom the diagnosis was missed at a routine prenatal sonogram at 19 weeks of gestation. The patients reported herein expand the clinical spectrum of FFS. The utility of sonographic evaluation in diagnosis of the facial appearance and of the bony abnormalities in this condition is emphasized.

Women's perception of self-worth and access to health care.

OBJECTIVE: : Research has shown differences in health status and health care utilization related to culture, economic status, and health care development. This paper reports on a study comparing attitudes of women in three countries, at various stages of development, about their own health and self-worth and asks if these differences account for differences in health care utilization and inequities in health status. METHOD: : A questionnaire, administered to 100 women in each of Yemen, Uganda and Canada, explored women's perception of their own health and health care seeking behavior. RESULT: : Women's perception of themselves as worthy of care was positively related to utilization. The ability to make one's own health care decisions varied with her country's development level. Implementation strategies must consider women's decision-making capacity. CONCLUSION: : To achieve improved health status, policies and programs must commit to encouraging appropriate social and cultural changes, using a 'cross-sectoral approach', involving both gender and development issues.

Late first-trimester invasive prenatal diagnosis: results of an international randomized trial.

OBJECTIVE: To assess, in a randomized trial, the safety and accuracy of amniocentesis and transabdominal chorionic villus sampling (CVS) performed at 11-14 weeks of gestation, given that this time frame is increasingly relevant to early trisomy screening. METHODS: We compared amniocentesis with CVS from 77 to 104 days of gestation in a randomized trial in a predominantly advanced maternal age population. Before randomization, the feasibility of both procedures was confirmed by ultrasonography, and experienced operators performed sampling under ultrasound guidance; conventional cytogenetic analysis was employed. The primary outcome measure was a composite of fetal loss plus preterm delivery before 28 weeks of gestation in cytogenetically normal pregnancies. RESULTS: We randomized 3,775 women into 2 groups (1,914 to CVS; 1,861 to amniocentesis), which were comparable at baseline. More than 99.6% had the assigned procedure, and 99.9% were followed through delivery. In contrast to previous thinking, in the cytogenetically normal cohort (n = 3,698), no difference in primary study outcome was observed: 2.1% (95% confidence interval 1.5, 2.8) for CVS and 2.3% (95% confidence interval, 1.7, 3.1) for amniocentesis. However, spontaneous losses before 20 weeks and procedure-related, indicated terminations combined were increased in the amniocentesis group (P =.07, relative risk 1.74). We found a 4-fold increase in the rate of talipes equinovarus after amniocentesis (P =.02) overall and in week 13 (P =.03, relative risk = 4.65), but data were insufficient to determine this risk in week 14. CONCLUSION: Amniocentesis at 13 weeks carries a significantly increased risk of talipes equinovarus compared with CVS and also suggests an increase in early, unintended pregnancy loss. LEVEL OF EVIDENCE: I

The quality of obstetrical clinical practice guidelines promulgated by a specialty society.

OBJECTIVE: To review the methodologic quality of all obstetrical clinical practice guidelines developed by the Society of Obstetricians and Gynaecologists of Canada (SOGC) from 1992 to August 2001. METHODS: Three reviewers independently assessed each of 37 guidelines according to a validated and reliable 37-item appraisal tool. A mean "global" score as well as three "dimension" scores were calculated for each guideline. The appraisal tool assessed each document according to three dimensions, which related to the rigour of its development (Dimension 1), its context and content (Dimension 2), and its application (Dimension 3). A repeated-measures analysis of variance was used to derive the interclass correlation coefficient. RESULTS: Mean global quality scores ranged from 8.1% to 54.0%. Only two guidelines were given a mean global score above 50% and 21 of the guidelines (56.8%) had mean global scores of less than 30%. Mean dimension scores were 19.9% for Dimension 1, relating to rigour of development, 47.3% for Dimension 2, relating to context and content, and 27.2% for Dimension 3, relating to application. The interclass correlation coefficient using a fixed-effects model was 0.72, reflecting reasonable agreement between the reviewers. CONCLUSION: Both the mean global scores and mean dimension-specific scores for the obstetrical clinical practice guidelines were lower than optimal. We were unable to reveal statistically significant improvements in guideline quality over time given the limited number of documents, but the scores for more recently drafted guidelines appear generally higher than earlier guidelines. This finding is consistent with new editorial policy adopted by the SOGC regarding guideline development. A broader review should be conducted by the SOGC on guidelines in development and under revision.

Double-blind, randomized, controlled trial of atosiban and ritodrine in the treatment of preterm labor: a multicenter effectiveness and safety study.

OBJECTIVE: This study was undertaken to compare the efficacy and safety of intravenous administration of atosiban versus ritodrine for the treatment of preterm labor. STUDY DESIGN: Women with preterm labor and intact membranes diagnosed at 23 to 33 gestational weeks (n = 247) were randomly assigned to treatment arms and received atosiban (6.75 mg intravenous bolus, 300 microg/min for 3 hours, then 100 microg/min intravenously) or ritodrine (0.10-0.35 mg/min intravenously) for as long as 18 hours. Tocolytic effectiveness was assessed in terms of the numbers of women who had not been delivered after 48 hours and after 7 days. Safety was assessed in terms of maternal side effects and neonatal morbidity. Secondary outcomes included mean gestational age at delivery and mean birth weight. An intent-to-treat analysis was performed with the Cochran-Mantel-Haenszel test. RESULTS: The proportion of women who had not been delivered at 48 hours was 84.9% (n = 107) in the atosiban group and 86.8% (n = 105) in the ritodrine group. At 7 days 92 women had still not been delivered in both the atosiban (73.0%) and ritodrine (76.0%) groups. Neither of these differences was statistically significant. The incidence of maternal cardiovascular side effects was substantially lower in the atosiban group (4.0% vs 84.3%, P <.001). In addition, intravenous therapy was terminated more frequently as a result of maternal adverse events in the ritodrine group (29.8%) than in the atosiban group (0.8%). The overall occurrences of fetal adverse events in the two treatment groups were comparable. Neonatal morbidity was similar between the treatment groups after adjustment for unbalanced enrollment of women with multiple pregnancies and for gestational ages within treatment groups. CONCLUSION: Atosiban was comparable in clinical effectiveness to conventional ritodrine therapy but was better tolerated than ritodrine, with no evidence of significant maternal or fetal adverse events. Neonatal morbidity, which was similar between the two treatment arms, was apparently related to the gestational age of the infant rather than to the exposure to either tocolytic agent.

Risk of congenital malformations associated with treatment of asthma during early pregnancy.

Studies assessing the risk of congenital malformations associated with the treatment of asthma during the first trimester of pregnancy are few, have limited power and support continuation of treatment.

US assessment of the fetal head and neck: a state-of-the-art pictorial review.

When attention is paid to the details of normal and abnormal fetal head and neck anatomy, abnormalities that normally would be missed at prenatal ultrasonography can routinely be diagnosed. Five basic views are used to assess the fetal head and neck: a transverse view of the head in the plane of the cavum septum pellucidum and cerebellum, a sagittal and a coronal view of the face to visualize the nose and lips, a sagittal view of the cervical spine, and a transverse view of the orbits to measure the biorbital and interorbital distances. Thickened nuchal fold, a common sign of Down syndrome, can be assessed with transverse images of the head. Transverse views are also useful to demonstrate cystic hygroma, occipital meningocele, and encephalocele, all of which can be associated with other severe anomalies. Micrognathia, cleft lip and palate, and macroglossia, which are best depicted with sagittal and coronal views of the face, are also associated with other fetal abnormalities. Visualization of these entities should prompt further search and amniocentesis. Lymphangioma of the tongue appears similar to macroglossia but is an isolated anomaly. Transverse views through the orbits are helpful for demonstrating orbital teratoma, orbital encephalocele, and hypo- and hypertelorism (the latter two being associated with other abnormalities). Sagittal views of the neck can demonstrate cystic hygroma, teratoma, and an enlarged thyroid.

Technical factors in early amniocentesis predict adverse outcome. Results of the Canadian Early (EA) versus Mid-trimester (MA) Amniocentesis Trial.

The purpose of this study was to identify risk factors for fetal loss and other pregnancy complications associated with genetic amniocentesis. Data were acquired in the Canadian Early Amniocentesis Trial (CEMAT), a multicentered (12) prospective, randomized trial comparing continuous ultrasound-guided early amniocentesis (EA) and mid-trimester amniocentesis (MA) (CEMAT Group, 1998). Details of the procedure were recorded and analysed by allocation (EA versus MA), operator and centre, and correlated with pregnancy outcome. A total of 62 spontaneous pregnancy losses occurred between the procedure and 20 weeks' gestation among the 3691 patients who received their procedures within the allocated window (EA=53/1916, MA=9/1775). Technical factors correlating with these losses included procedures 'judged to be difficult' by the operator, and post-procedure amniotic fluid leakage or bleeding. Maternal risk factors included maternal hypertension (fetal loss 11. 1 per cent, compared with non-hypertensive women, 2.6 per cent) increased body mass index (BMI) and gravidity of three or greater. Allocation to EA was predictive of fetal loss, as well as failed procedure, multiple needle insertions, amniotic fluid leakage, failed culture and talipes equinovarus, in excess compared with MA. In conclusion, in this large prospective randomized trial evaluating amniocentesis, specific maternal, fetal and procedural variables were found to be predictive of fetal loss and adverse pregnancy outcome. Performing amniocentesis before 13 weeks' gestation (EA) was the major predictive factor for adverse outcome. These data suggest that first-trimester chorionic villus sampling (CVS) and MA will likely remain the invasive procedures of choice for evaluation of fetal karyotype.

Multiple congenital anomalies in a fetus with 45,X/46,X,r(X)(p11.22q12) mosaicism.

Ring X chromosomes that do not undergo inactivation may cause malformations and mental retardation. We report on a fetus with anencephaly, total dorsal rachischisis, and diaphragmatic hernia that was found to have a mosaic 45,X/46,X,r(X)(p11.22q12) karyotype. Fluorescent in situ hybridization (FISH) confirmed that the ring chromosome was X-derived. This report expands the phenotypic spectrum of mosaic monosomy X and small ring X chromosomes.

Multiple cardiac masses diagnosed with prenatal ultrasonography in the fetus of a woman with tuberous sclerosis.

Cardiac rhabdomyomas are associated with tuberous sclerosis, but their identification in utero is uncommon. The authors report a case of multiple cardiac masses discovered in utero by prenatal ultrasonography at about 30 weeks gestational age. Follow-up included neonatal echocardiography, ultrasonography and computed tomography of the head. The differential diagnosis of echogenic intracardiac masses, as well as their management, is discussed.

Influence of maternal insulin-dependent diabetes mellitus on neonatal morbidity.

OBJECTIVE: To compare the neonatal morbidity rates (corrected for gestational age at delivery and method of delivery) among infants of women with insulin-dependent diabetes mellitus and those of women without diabetes. DESIGN: Historical cohort analysis. SETTING: Tertiary care centre. PATIENTS: All liveborn infants of women with insulin-dependent diabetes mellitus (IDM group) born between Jan. 1, 1980, and Dec. 31, 1989, each matched for gestational age at delivery, method of delivery and year of birth with two newborns of women without diabetes (control group). MAIN OUTCOME MEASURES: Neonatal respiratory distress, jaundice, hypoglycemia, polycythemia, hypocalcemia, intraventricular hemorrhage, seizure and macrosomia. RESULTS: There were 230 infants in the IDM group and 460 in the control group. Compared with the control group the IDM group had significantly higher incidence rates of glucose infusion (odds ratio [OR] 5.38), birth weight above the 90th percentile (OR 4.15) and neonatal jaundice (OR 1.94). No significant difference was found in the incidence rate of respiratory distress, polycythemia or hypocalcemia. The maternal serum hemoglobin A (HbA) level was not significantly related to birth weight, and neither the serum HbA level nor the presence of macrosomia was predictive of neonatal morbidity. Nearly 25% of the infants in the IDM group were born before 37 weeks' gestation; 48.2% of these were delivered early because of maternal hypertension. CONCLUSIONS: Neonatal morbidity in infants of women with diabetes is determined more by gestational age at delivery than by the maternal diabetes. Within the limits obtained in this study the degree of control of the diabetes does not seem to affect neonatal morbidity.

Practice patterns and attitudes toward education among Canadian obstetricians and gynecologists.

A group of 1370 specialists in obstetrics and gynecology were surveyed for information about practice patterns, continuing medical education preferences, and their perception of the adequacy of their own residency training. The overall response rate was 65.7%. More than half were in solo practice, practiced in communities of over 250,000, had been in practice for more than 10 years, or had a full or part-time appointment with a Canadian medical school. A wide range of continuing medical education methods were used. Journals were ranked highest by 41%. It is disturbing that very few physicians (15%) indicated any involvement in practice audit. The quality of residency training was ranked low in a number of areas including genetic counseling, ultrasound, neonatology, intensive care, colposcopy, sexual dysfunction, marital counseling, and hysteroscopy. The survey highlights a number of areas that merit the attention of Canadian programs in postgraduate and continuing medical education in obstetrics and gynecology.