Can prenatal ultrasound findings predict ambulatory status in fetuses with open spina bifida?

OBJECTIVE: To determine whether prenatal sonographic findings in fetuses with open spina bifida can predict ambulatory potential and the need for postnatal shunt placement. STUDY DESIGN: Ongoing pregnancies complicated by isolated open spina bifida from January 1996 to March 2000 were studied retrospectively. Static images and reports generated every 3-4 weeks from diagnosis until delivery were reviewed for lesion level and type, ventricular width, and lower extremity appearance. Operative summaries as well as neonatal and pediatric charts were reviewed. Ambulatory was defined in infants > or =2 years old as walking with or without appliances. In those <2 years of age, ambulatory was defined as at least 4/5 lower extremity muscle strength. RESULTS: Thirty-three cases of isolated open spina bifida were identified. Lower (more caudal) lesion levels and smaller ventricular size were associated with ambulatory status in univariate analyses (P <.001, P =.003, respectively). No infant with a thoracic lesion was ambulatory (n = 11); all had ventriculomegaly diagnosed prenatally and all required shunt placement. In contrast, all infants with L4-sacral lesions (n = 10) were ambulatory, and 60% had ventriculomegaly diagnosed prenatally. Of patients with L1-L3 lesions (n = 12), 50% were ambulatory. In this group, ambulatory potential could not be determined by the presence of ventriculomegaly, ventricular size, or the presence of club foot. In the entire cohort, no infant with a myeloschisis was ambulatory, and all infants except one with a sacral lesion required postnatal shunt placement. CONCLUSIONS: Sonographic determination of lesion level and type is useful in predicting the ambulatory potential of fetuses with open spina bifida.     

Can antepartum computerized cardiotocography predict the evolution of intrapartum acid-base status in normal fetuses?

BACKGROUND: To study the relationship between antepartum computerized cardiotocography (cCTG) and the evolution of intrapartum fetal acid-base balance in a low-risk population. METHODS: Forty-nine healthy fetuses were prospectively followed up by antepartum cCTG (Oxford System 8002), fetal scalp blood sampling at the onset of the active phase of dilatation (3 cm) and at the beginning of the second stage of labor (10 cm) and study of acid-base status at birth in the umbilical cord. Correlation studies and linear regression analysis were performed. RESULTS: Normal prelabor cCTG was followed by normal fetal acid-base balance in the different study periods. No relationship was found between cCTG parameters and the absolute values of fetal acid-base status. However, the more favorable the antepartum cCTG parameters were, the more favorable the fetal acid-base evolution during the active phase of dilatation was. In contrast, no significant correlations were found between antepartum cCTG and fetal acid-base changes during the second stage of labor. CONCLUSIONS: In normal fetuses, a single antepartum cCTG identified correctly fetal well-being during labor and at birth and was able to predict fetal acid-base evolution during the active phase of dilatation. However, fetal biochemical changes during the second stage could not be predicted by any antepartum cCTG parameter.     

Can we predict delivery date with obstetric ultrasound?

Abstract

Objective: The long-term prediction of delivery date with obstetric ultrasound.

Method: The cervical length (CL) and the fetal vertebral, middle cerebral and umbilical resistance indices were measured in 317 pregnancies between 30 and 37 weeks. Subsequently, multivariate analysis was applied to calculate the best model for the prediction of delivery date.

Results: The best model included the examinations of the CL and the middle cerebral artery resistance index. In comparison with estimated delivery date (EDD) based on the last menstrual period, a small improvement was detected, particularly in earlier deliveries, however 34% of predictions still had an error of more than 5 days.

Conclusions: Long-term sonographic prediction of delivery date depends mainly on the CL and improves the prediction of the EDD. However, it is still too inaccurate for clinical use.     

Can we predict shoulder dystocia?

Purpose  

To analyse the significance of risk factors and the possibility of prediction of shoulder dystocia.     

Can we predict successful cervical ripening with prostaglandin E2 vaginal inserts?

Purpose

Previous studies have suggested that a variety of maternal and obstetrical characteristics may predict successful prostaglandin E2 (PGE2) cervical ripening. However, in most studies women were administered vaginal tablets or gel so scarce is known regarding potential predictors in women administrated slow-release vaginal inserts. We aimed to characterize the response of cervical ripening for labor induction using slow-release PGE2 vaginal insert and to identify predictors for success.

Methods

A retrospective cohort study in a single center (2013–2015). The association between maternal characteristics at admission and cervical ripening success/failure were explored. Cervical ripening failure was defined as a Bishop’s score <7 following 24 h from cervical ripening or the need for cesarean delivery (CS) due to arrest of dilatation at cervical dilatation ≤5 cm. Cases with major fetal anomalies, multiple gestations, non-vertex presentation or any contraindication for vaginal delivery were excluded.

Results

Of 15,564 deliveries during the study period, 986 (6.3%) women met inclusion criteria, of them, 774 (78.56%) succeeded and 212 (21.5%) failed cervical ripening. Cervical ripening success was associated with (OR, 95% CI): nulliparity (0.42, 0.22–0.81, p = 0.009, i.e., nulliparity was negatively associated with successful ripening), gestational age (GA) at delivery (1.29, 1.02–1.61, p < 0.03), and cervical dilation at admission (4.58, 2.57–8.17, p < 0.001). The indications for labor induction were not associated with cervical ripening success. A prediction model which included the abovementioned characteristics had an AUC of 0.792 (95% CI 0.743–0.840).

Conclusions

Overall, basic parameters, such as parity, cervical dilatation at admission and gestational age can predict successful cervical ripening PGE2 vaginal inserts.

     

Can subjective global assessment of nutritional status predict survival in ovarian cancer?

Background

Malnutrition is a significant problem in patients with ovarian cancer. The goal of this study was to investigate the prognostic role of Subjective Global Assessment (SGA) in patients with ovarian cancer treated in an integrative cancer treatment setting.

Methods

We evaluated a case series of 132 ovarian cancer patients treated at Cancer Treatment Centers of America^® from Jan 2001 to May 2006. SGA was used to assess nutritional status at baseline. Using SGA, patients were classified as well nourished (SGA A), moderately malnourished (SGA B) or severely malnourished (SGA C). Kaplan Meier method was used to calculate survival. Cox proportional hazard models were constructed to evaluate the prognostic effect of SGA independent of other factors.

Results

Of 132 patients, 24 were newly diagnosed while 108 had received prior treatment. 15 had stage I disease at diagnosis, 8 stage II, 85 stage III and 17 stage IV. The median age at presentation was 54.4 years (range 25.5 – 82.5 years). 66 patients were well-nourished (SGA A), 35 moderately malnourished (SGA B) and 31 severely malnourished (SGA C). Well nourished patients had a median survival of 19.3 months (95% CI: 14.1 to 24.5), moderately malnourished 15.5 months (95% CI: 5.8 to 25.1), and severely malnourished 6.7 months (95% CI: 4.1 to 9.3); the difference being statistically significant (p = 0.0003). Multivariate Cox modeling, after adjusting for stage at diagnosis and prior treatment history found that moderately malnourished and severely malnourished status were associated with a relative risk of 2.1 (95% CI: 1.2 to 3.6, p = 0.008) and 3.4 (95% CI: 1.9 to 5.8, p < 0.001) respectively as compared to well nourished status.

Conclusion

Univariate and multivariate survival analyses found that low SGA scores (i.e. well-nourished status) are associated with better survival outcomes. This study lends support to the role of aggressive nutritional intervention in improving patient outcomes in cancer care.     

Microcephaly, lissencephaly, Hirschsprung disease and tetralogy of Fallot: a new syndrome?

We report an 8-month-old girl with extreme microcephaly, lissencephaly, tetralogy of Fallot and Hirschsprung disease. She has a history of infantile spasms with developmental stagnation. Various diagnoses were considered but none seem to fit her clinical presentation. This combination of findings has not been described in the past and we suggest that this may be a previously undescribed neurodevelopmental syndrome resulting from a global failure of neuronal migration.     

22q11 deletion and polymicrogyria--cause or coincidence?

We report a familial case of velocardiofacial syndrome (VCFS) with polymicrogyria to provide further support for the association of disorders of cortical development with del(22q11) syndromes.     

Can we predict the chance of successful epididymal or testicular sperm aspiration following vasectomy?

Purpose of this retrospective study was to investigate if serum markers, men’s age, interval since vasectomy, BMI, testicular size and smoking could predict the success of epididymal or testicular sperm aspiration (PESA/TESA) in vasectomized men. Forty-four consecutively performed PESA/TESA procedures were reviewed retrospectively. Motile sperm was retrieved from 77.3% of PESA/TESA procedures. Mean serum Inhibin-B (Inh-B) level tended to be higher in men who had motile sperm retrieved compared to those who had not (180.3 versus 126.2?pg/ml, p?=?0.05). Univariate analysis identified serum Inh-B to be the only predictor of PESA/TESA success (r?=?0.32, CI: 0.006–0.584, p?=?0.046). Serum FSH, LH, T levels, age, BMI, smoking status and interval since vasectomy did not correlate with the PESA/TESA outcome. Inh-B could modestly discriminate between successful and unsuccessful PESA/TESA (AUC=?0.70) with high positive (89.5%) but low negative prediction (36.8%); 58.6% sensitivity and 77.7% specificity at the optimum cut-off level of 166?pg/ml. Positive outcome was only 50% when the Inh-B level was below 100?pg/ml. It is concluded that a high serum Inh-B might reliably predict successful PESA/TESA in vasectomized men. More invasive sperm retrieval procedures could be reserved for men with very low Inh-B or failed PESA/TESA. Future studies with adequate power may confirm our findings.     

Can the source of hyperandrogenism in adolescents with polycystic ovary syndrome predict metabolic phenotype?

In this study, we demonstrated an association between adrenal hyperandrogenism, as determined by dehydroepiandrostenedione-to-free testosterone (DHEA-S/FT) ratio, and metabolic phenotype in obese and lean adolescents with polycystic ovary syndrome (PCOS). We compared 64 overweight/obese adolescents with PCOS (PCOS-O) with 18 lean (PCOS-L) adolescents. We analyzed the association between DHEA-S/FT ratios and metabolic parameters. Patients in the PCOS-O group were younger (median [interquartile range]) than those in the PCOS-L group (15 [15-17] vs. 16 [16–17] years; p?=?.04). The median DHEA-S/FT ratio and total testosterone concentrations did not differ. However, androstenedione concentrations were higher in the PCOS-L group (p?=?.02) and free testosterone levels lower in the PCOS-L group compared with the PCOS-O group (p?=?.02). Insulin resistance was present in 30 of 64 (46.9%) adolescents with PCOS-O compared with 1 of 18 (5.6%) with PCOS-L (p?=?.001). A significant negative correlation between DHEA-S/FT ratios and insulin concentrations in PCOS-O (p?=?.03) and PCOS-L (p?=?.04) groups was noted. In the PCOS-O group, the DHEA-S/FT ratio was negatively associated with serum triglyceride (p?=?.03) and total cholesterol concentrations (p?=?.02). We conclude that in adolescents with PCOS, a higher ratio of adrenal to ovarian androgens, signified by DHEA-S/FT, may be associated with a more favorable metabolic phenotype.     

Prenatal diagnosis of Prader–Willi syndrome and Angelman syndrome for fetuses with suspicious deletion of chromosomal region 15q11-q13

Objective

To identify Prader–Willi syndrome (PWS) and Angelman syndrome (AS) among fetuses with suspicious deletion of the chromosomal region 15q11-q13.

Methods

In a retrospective study, data were assessed from fetuses missing chromosomal band 15q12 that underwent molecular diagnosis at the National Chen-Kung University Hospital, Tainan, Taiwan, between January 2001 and December 2012. Amniocytes were subjected to molecular testing, including fluorescence in situ hybridization (FISH) analysis, methylation-specific PCR (M-PCR), and methylation-specific multiplex-ligation-dependent probe amplification (MS-MLPA).

Results

During the 12-year study period, 26 041 amniocyte samples were analyzed at the study center and 27 (0.1%) were found to have a missing 15q12 band. A further 16 samples with a missing 15q12 band were received from other cytogenetic laboratories; as a result, 43 amniocyte samples lacking chromosomal band 15q12 underwent further molecular testing. Among these samples, 3 fetuses (7.0%) were found to have PWS (n = 1) or AS (n = 2).

Conclusion

A minority of cases with missing 15q12 had deletion of the PWS/AS critical region. This finding draws attention to the subtle structural rearrangements that occur on 15q11-q13 and provides useful information for prenatal diagnosis of PWS and AS.     

A case of lateral facial clefts with Fallot tetralogy, duodenal stenosis and intestinal malrotation: a new multiple congenital anomaly syndrome?

Multiple congenital malformations in a Caucasian female infant are described which include lateral facial clefts, malformed external ears, cleft palate, Fallot tetralogy, duodenal stenosis and intestinal malrotation. There were no associated limb or spinal anomalies. This case appears to be an example of a new multiple congenital anomaly syndrome.     

CATCH22综合征与染色体22q11缺失

CATCH22综合征是以先天性心脏畸形、异常面容、低钙血症、胸腺发育不良等为特征的遗传性疾病，与人类22号染色体长臂1区1带（22q11）的1.5—3Mb缺失有关，22q11区域中某些基因有可能是致病关键基因，22q11微缺失的检测有助于TCATCH22综合征产前和产后的诊断，减少患病儿出生率，提高人口质量。     

CATCH22综合征与染色体22q11缺失

CATCH22综合征是以先天性心脏畸形、异常面容、低钙血症、胸腺发育不良等为特征的遗传性疾病,与人类22号染色体长臂1区1带(22q11)的1.5-3 Mb缺失有关,22q11区域中某些基因有可能是致病关键基因,22q11微缺失的检测有助于CATCH22综合征产前和产后的诊断,减少患病儿出生率,提高人口质量.     

Can we predict patients at risk for persistent ectopic pregnancy after laparoscopic salpingotomy?

To identify factors that may predict patients at increased risk for persistent ectopic pregnancy after linear salpingotomy, we analyzed demographic, surgical, and biochemical variables retrospectively in 60 women who underwent laparoscopic linear salpingotomy, and compared data in those who developed persistent ectopic pregnancy (study group) versus those who were cured (controls). The two groups were similar with respect to demographic features and surgical findings. They did not differ significantly in gestational age and human chorionic gonadotropin (hCG) levels at time of surgery. There was, however, a significant difference in hCG dynamics when the average daily increase in the week before surgery was analyzed. Eleven (18%) women developed persistent ectopic pregnancy. The disorder did not occur in those whose hCG levels were flat or declining, whereas patients whose levels increased more than 40% per day had a significantly greater risk. In addition, at surgery, tubal bleeding was significantly more common in study patients than in controls (55 vs 9%, p<0.001). We conclude that hCG dynamics in the week before salpingotomy, and bleeding activity at surgery may identify patients who are the most likely candidates for persistent ectopic pregnancy.     

Can anomalies of fetal brain circulation be useful in the management of growth restricted fetuses?

Assessment of the fetal cerebral circulation provides important information on the hemodynamic changes associated with chronic hypoxia and intrauterine growth restriction. Despite the incorporation of new US parameters, the landmark for the fetal brain hemodynamic evaluation is still the middle cerebral artery. However, new vascular territories, such as the anterior and posterior cerebral arteries, might provide additional information on the onset of the brain sparing effect. The fractional moving blood volume estimation and three-dimensional power Doppler ultrasound indices are new techniques that seem to be promising in identifying cases at earlier stages of vascular deterioration; still, they are not available for clinical application and more information is needed on the reproducibility and advantages of three-dimensional power Doppler ultrasound blood flow indices. In the past, the brain sparing effect was considered as a protective mechanism; however, recent information challenges this concept. There is growing evidence of an association between brain sparing effect and increased risk of abnormal neurodevelopment after birth. Even in mild late-onset intrauterine growth restriction affected fetuses with normal umbilical artery blood flow, increased cerebral blood perfusion can be associated with a substantial risk of abnormal neuroadaptation and neurodevelopment during childhood.     

22q11微缺失综合征的产前诊断

22q11微缺失综合征的临床表型变异范围广泛,其典型的临床表现是心脏畸形,面容异常,胸腺发育不全,腭裂和低钙血症.进行产前诊断的人群主要是:曾经有22q11微缺失综合征孕产史的夫妇,自身是22q11微缺失患者的夫妇和宫内监测到妊娠胎儿有心脏锥干畸形者.产前诊断的方法主要有:常规染色体核型分析,荧光原位杂交,多重PCR,实时定量PCR和微阵列-比较基因组杂交.