https://www.commed.vcu.edu/Chronic_Disease/2012/cochranrvwrschbias.pdf

The Cochrane Collaboration's tool for assessing risk of bias in randomised trials

Categorization of the Ehlers-Danlos syndromes began in the late 1960s and was formalized in the Berlin nosology. Over time, it became apparent that the diagnostic criteria established and published in 1988 did not discriminate adequately between the different types of Ehlers-Danlos syndromes or between Ehlers-Danlos syndromes and other phenotypically related conditions. In addition, elucidation of the molecular basis of several Ehlers-Danlos syndromes has added a new dimension to the characterization of this group of disorders. We propose a revision of the classification of the Ehlers-Danlos syndromes based primarily on the cause of each type. Major and minor diagnostic criteria have been defined for each type and complemented whenever possible with laboratory findings. This simplified classification will facilitate an accurate diagnosis of the Ehlers-Danlos syndromes and contribute to the delineation of phenotypically related disorders.

Ehlers‐Danlos syndromes: Revised nosology, Villefranche, 1997

The trial was stopped for efficacy of prenatal surgery after the recruitment of 183 of a planned 200 patients. This report is based on results in 158 patients whose children were evaluated at 12 months. The first primary outcome occurred in 68% of the infants in the prenatal-surgery group and in 98% of those in the postnatalsurgery group (relative risk, 0.70; 97.7% confidence interval [CI], 0.58 to 0.84; P<0.001). Actual rates of shunt placement were 40% in the prenatal-surgery group and 82% in the postnatal-surgery group (relative risk, 0.48; 97.7% CI, 0.36 to 0.64; P<0.001). Prenatal surgery also resulted in improvement in the composite score for mental development and motor function at 30 months (P = 0.007) and in improvement in several secondary outcomes, including hindbrain herniation by 12 months and ambulation by 30 months. However, prenatal surgery was associated with an increased risk of preterm delivery and uterine dehiscence at delivery. Conclusions Prenatal surgery for myelomeningocele reduced the need for shunting and improved motor outcomes at 30 months but was associated with maternal and fetal risks. (Funded by the National Institutes of Health; ClinicalTrials.gov number, NCT00060606.)

/pdf/a-randomized-trial-of-prenatal-versus-postnatal-repair-of-23m24pwb45.pdf

A Randomized Trial of Prenatal versus Postnatal Repair of Myelomeningocele

eMedicine创建于1996年，由近万名临床医师作为作者或编辑参与此临床医学知识库的建设，其中编辑均是来自美国哈佛、耶鲁、斯坦福、芝加哥、德克萨斯、加州大学等各分校医学院的教授或副教授。

eMedicine

Context Evidence suggests an association between maternal obesity and some congenital anomalies. Objective To assess current evidence of the association between maternal overweight, maternal obesity, and congenital anomaly. Data Sources MEDLINE, EMBASE, CINAHL, and Scopus (January 1966 through May 2008) were searched for English-language studies using a list of keywords. Reference lists from relevant review articles were also searched. Study Selection Observational studies with an estimate of prepregnancy or early pregnancy weight or body mass index (BMI) and data on congenital anomalies were considered. Of 1944 potential articles, 39 were included in the systematic review and 18 in the meta-analysis. Data Extraction and Synthesis Information was extracted on study design, quality, participants, congenital anomaly groups and subtypes, and risk estimates. Pooled odds ratios (ORs) comparing risk among overweight, obese, and recommended-weight mothers (defined by BMI) were determined for congenital anomaly groups and subtypes for which at least 150 cases had been reported in the literature. Results Pooled ORs for overweight and obesity were calculated for 16 and 15 anomaly groups or subtypes, respectively. Compared with mothers of recommended BMI, obese mothers were at increased odds of pregnancies affected by neural tube defects (OR, 1.87; 95% confidence interval [CI], 1.62-2.15), spina bifida (OR, 2.24; 95% CI, 1.86-2.69), cardiovascular anomalies (OR, 1.30; 95% CI, 1.12-1.51), septal anomalies (OR, 1.20; 95% CI, 1.09-1.31), cleft palate (OR, 1.23; 95% CI, 1.03-1.47), cleft lip and palate (OR, 1.20; 95% CI, 1.03-1.40), anorectal atresia (OR, 1.48; 95% CI, 1.12-1.97), hydrocephaly (OR, 1.68; 95% CI, 1.19-2.36), and limb reduction anomalies (OR, 1.34; 95% CI, 1.03-1.73). The risk of gastroschisis among obese mothers was significantly reduced (OR, 0.17; 95% CI, 0.10-0.30). Conclusions Maternal obesity is associated with an increased risk of a range of structural anomalies, although the absolute increase is likely to be small. Further studies are needed to confirm whether maternal overweight is also implicated.

Maternal Overweight and Obesity and the Risk of Congenital Anomalies: A Systematic Review and Meta-analysis

Objective: To evaluate the effect of fetal sex on the concentration of amniotic fluid alpha-fetoprotein (AF-AFP) in singletons and twins. Material and Methods: Am

No Effect of Fetal Sex on Amniotic Fluid Alpha-Fetoprotein

Objective: To discuss the necessity of close sonographic surveillance of small, isolated fetal pleural effusions as well as the selection criteria and benefits of in utero therapy utilizing thoracoamniotic shunts. Methods: High-resolution ultrasound, fetal echocardiography, amniocentesis for viral cultures, cordocentesis, and thoracocentesis were performed to evaluate the underlying etiology of a unilateral pleural effusion. A Rodeck Rocket shunt was placed following sudden, rapid progression of the effusion and onset of severe fetal hydrops. Results: Placement of the thoracoamniotic shunt resulted in near-complete drainage of the pleural effusion with normalization of intrathoracic anatomic relationships, subsequent complete resolution of fetal hydrops, and excellent postnatal outcome. Conclusions: Apparently stable, small pleural effusions can progress rapidly to severe hydrops and need to be followed closely. In appropriately evaluated and selected cases, thoracoamniotic shunt placement may result in resolution of fetal hydrops and prevent intrauterine fetal death.

Isolated unilateral fetal pleural effusion: the role of sonographic surveillance and in utero therapy

In 7 second trimester pregnancies ultrasound (US) demonstrated cystic hygroma colli (CHC); amniocentesis was performed in 6 patients. In the 7th patient, because of oli-gohydramnios, the fluid for karyotype was aspirated from the CHC. Five pregnancies had been referred secondary to abnormalities on US and 2 others because of low maternal serum alpha-fetoprotein (MSAFP). Four karyotypes were abnormal (45, X; 47, XX+21; 47.XY+21; 46, XX/45, X), and 3 had normal karyotypes. Amniotic fluid alpha-fetoprotein (AFAFP) was normal in 4 pregnancies and low in 2 (0.09 MOM, 0.41 MOM). Of 2 pregnancies with trisomy 21 one had been referred for low MSAFP. In 2 pregnancies with normal karyotypes, US findings at early gestational age (14–17 weeks) of small, nonseptated, bilateral CHC disappeared during pregnancy; these women delivered normal, term babies. Most prenatally diagnosed CHC are not in fetuses with Turner syndrome. With a normal karyotype and CHC as the only finding on early US in utero, normal neonatal survival is possible. AFAFP is not elevated in pregnancies with CHC. If AFAFP is elevated with a positive acetylcholinesterase, such results may suggest that the CHC was inadvertently aspirated.

Amniotic fluid alpha-fetoprotein levels in the differential diagnosis of cystic hygroma.

Comparisons of the risk rates of an invasive procedure are difficult when the same term, early amniocentesis, is used to cover procedures from 9 to 15 weeks since the total loss rate is principally a function of gestational age. We propose definitions of procedures by gestational age; they should allow fair and appropriate comparisons.

Early amniocentesis. What exactly does it mean

We present the first reported case of prenatally diagnosed dup(22q) syndrome in a 20-year-old woman referred for genetic counseling because of a low maternal serum alpha-fetoprotein value. An ultrasound study at 22 weeks demonstrated oligohydramnios, intrauterine growth retardation, multiple facial malformations, and a cardiac defect. Fetal karyotype was 46, XYdup(22)(pter----q13:: q12----qter) by amniocentesis. Necropsy following pregnancy termination confirmed all prenatally delineated anomalies. Comparison is made with the complete and partial proximal dup(22q) syndromes. We emphasize the correlation between aneuploidy and the presence of low maternal serum alpha-fetoprotein, oligohydramnios, and midgestational intrauterine growth retardation.

Mark P. Johnson

Papers

No Effect of Fetal Sex on Amniotic Fluid Alpha-Fetoprotein

Isolated unilateral fetal pleural effusion: the role of sonographic surveillance and in utero therapy

Amniotic fluid alpha-fetoprotein levels in the differential diagnosis of cystic hygroma.

Early amniocentesis. What exactly does it mean

Midtrimester diagnosis and anomalies in the dup(22q) syndrome: Correlation of aneuploidy with low maternal serum alpha‐fetoprotein and oligohydramnios