bluuebunny/crossref_metadata_2025_split huggingface dataset:
The Discovery of Unbalanced Translocations through Genome-Wide cfDNA Testing [32R]
Authors: Dyr Brittany , Boomer Theresa , Caldwell Samantha , Almasri Eyad , Wardrop Jenna , Donnenfeld Alan 
Published: April 2018

INTRODUCTION:
The MaterniT® GENOME test reports on genome-wide copy number variations >7Mb, making it uniquely positioned to identify deletions and duplications, such as those in unbalanced translocations. Since late 2015, more than 28,000 MaterniT® GENOME samples have been ordered. Here we describe cases where unbalanced translocations have been discovered.

METHODS:
Maternal blood samples submitted for genome-wide cfDNA testing were subjected to DNA extraction, library preparation, and whole-genome massively parallel sequencing as described by Jensen et al. Sequencing data were analyzed using a novel algorithm as described by Lefkowitz et al.

RESULTS:
A total of 28,760 samples were submitted to the clinical laboratory and 1,392 (4.8%) of these resulted positive. Among all positives, 49 were interpreted as possible translocation events between two chromosomes. Fetal confirmation was reported in 59% with an additional 37% likely concordant given family or clinical history, there were two cases (4%) lost to follow up and zero reported discordant cases. Prior knowledge of parental translocation existed for 29%, while 16% were identified as follow up to cfDNA testing. A minority of cases (6%) were de novo, with the remaining subset pending full parental assessment (51%). Totals will be updated prior to final publication.

CONCLUSION:
Familial translocations not previously amenable to cfDNA screening may now benefit from early identification or added reassurance. New discovery of families at risk of carrying a translocation often helps explain past pregnancy complications, as well as clarify future reproductive risk. MaterniT® GENOME is a relevant screening tool for families with a known translocation or suggestive family history.
Perinatal Outcomes in Twin Pregnancies Complicated with Short Cervix Treated with Cervical Cerclage [35R]
Authors: Idler Jay , Maldonado Maria , Hase Naomasa , Nunez Aldo , Paridon Alexander , Patwardhan Manasi 
Published: April 2018

INTRODUCTION:
Multifetal pregnancies are associated with poor outcomes. The goal of this study was to compare perinatal outcomes, in twin pregnancies complicated by short cervix managed with cerclage placement, to those managed expectantly.

METHODS:
We performed a retrospective cohort study of twin pregnancies complicated with short cervix (defined as <2.5cm) diagnosed before 24 weeks of gestation, at our institution between 2010 and 2015. Neonatal and pregnancy outcomes of patients who had cerclage placed were compared to those who did not. Independent t-test and Pearson’s chi-square test was used for the data analysis.

RESULTS:
835 twin pregnancies were reviewed. 33 patients (3.9%) had short cervix before 24 weeks of gestation. Fourteen (42.4%) of these patients had a cerclage placed. Of those whose pregnancies reached viability (75%), 15 (62.5%) did not have a cerclage in place, while nine (37.5%) did. Mean gestational age at delivery was significantly earlier in those who had a cerclage placed as compared to those who did not (27 versus 32 weeks; p = 0.03). Admission to the neonatal intensive care unit (NICU) was significantly higher in those who had a cerclage placed (9 vs. 12; p= 0.03). Birth weight was significantly lower, with a mean of 1010 grams in the cerclage group as compared to 1748 grams for those without a cerclage (p = 0.01).

CONCLUSION:
Consistent with other meta-analyses, our study demonstrates that cerclage placement in twin pregnancies complicated by short cervix is associated with poorer outcomes. Cerclage placement should be used with caution, after performing a detailed risk-benefit analysis.
BRCA Mutation Testing for First-Degree Relatives of Women With High-Grade Serous Ovarian Cancer [4OP]
Authors: Kwon Janice S. , Tinker Anna , Hanley Gillian , Pansegrau Gary , Carey Mark S. , Schrader Kasmintan 
Published: April 2018

INTRODUCTION:
Women with high-grade serous ovarian cancer (HGSC) have a 20% chance of carrying a BRCA1 or BRCA2 mutation and are eligible for BRCA testing. Many are untested, therefore their female first-degree relatives (FDR) may not qualify for testing unless they have specific ethnicity or other personal/family cancer history. We conducted a cost-effectiveness analysis to evaluate BRCA mutation testing for these FDR who are otherwise ineligible for testing.

METHODS:
A Markov Monte Carlo simulation model estimated the costs and benefits of 3 strategies for female FDR of HGSC patients whose BRCA status is unknown: 1) no BRCA testing; 2) universal BRCA testing, followed by risk-reducing bilateral salpingo-oophorectomy (RRBSO) for mutation carriers (“BRCA testing”); 3) universal RRBSO, without BRCA testing (“RRBSO”). Effectiveness was estimated in quality-adjusted life year (QALY) gains. Sensitivity analyses accounted for uncertainty around various parameters. The time horizon was 50 years.

RESULTS:
BRCA testing for female FDR of HGSC patients yielded a higher average QALY gain at acceptable cost compared to no BRCA testing, with an ICER of $7,729 per QALY. BRCA testing was more effective and less costly than RRBSO (19.20 QALYs vs 18.48 QALYs, and $10,108.35 vs $13,959.20, respectively), therefore BRCA testing is the dominant strategy. Results were stable over a wide range of plausible costs and estimates. Compliance with hormone replacement therapy had to exceed 84% for RRBSO to be the preferred strategy.

CONCLUSION:
BRCA mutation testing should be offered to all female first-degree relatives of women with high-grade serous ovarian cancer when their BRCA mutation status is unknown.
Deriving a Clinical Prediction Tool to Measure the Success of Labour Induction [12OP]
Authors: Alavifard Sepand , Meier Kennedy , Shulman Yonatan , Tomlinson George , D'Souza Rohan 
Published: April 2018

INTRODUCTION:
There is high-quality evidence supporting induction of labour (IOL) for a number of maternal and fetal indications. However, one fifth of inductions fail, requiring emergency cesarean deliveries. This has negative clinical, emotional and financial implications. Our objective was to derive and internally validate a clinical prediction tool to determine the success of IOL.

METHODS:
Data was extracted from electronic medical records of consecutive pregnant women who were induced between April 26, 2016 and December 31, 2016, at Mount Sinai Hospital (Toronto, Canada). A multivariable logistic regression model was developed using variables identified as predictors of successful IOL by literature review and expert opinion. Repeated K-fold cross-validation was used to internally validate the model.

RESULTS:
Of the 916 cases of IOL, 249 (27%) failed. The multivariable logistic regression model found maternal age, parity, pre-pregnancy weight, pre-pregnancy body mass index, weight at delivery and cervical dilation at time of induction as significant predictors of successful IOL. The prediction tool was well calibrated (Hosmer-Lemeshow χ2=6.42, P=.60) and demonstrated good discriminatory ability (area under the receiver-operating characteristic curve [AUROC], 0.79 [95% CI 0.76–0.82]). Internal validation of the model showed a similar discriminatory ability (AUROC, 0.77 [95% CI 0.68–0.85).

CONCLUSION:
We have derived and internally validated a clinical prediction tool for IOL in a large and diverse population. Once prospectively validated in other settings, this has potential for widespread use in clinical practice and research, as well as for enhancing patient experience and allocation of healthcare resources.
HIV Vertical Transmission Does Not Differ When Using Protein Inhibitor or Integrase Inhibitor Antiretrovirals [17OP]
Authors: Gomez Luis M. , Sublette Nina , Wang Jenny Q. , Samson Fernand , Tate Danielle L. 
Published: April 2018

INTRODUCTION:
HIV vertical transmission is reduced from 25% (baseline) to <2% with combined-antiretroviral therapy (cART) when the viral load (VL) near delivery is <1,000 copies/mL. For many years, the standard cART in pregnancy included 2 nucleoside reverse transcriptase inhibitors and 1 protease inhibitor (PI). Recently, integrase strand transfer inhibitors (INSTI) have been approved for use in pregnancy as an alternative to PI. We sought to compare the rate of HIV vertical transmission in women receiving PI- to those receiving INSTI-based cART.

METHODS:
This was a prospective cohort study of pregnant HIV-infected women who received care in an obstetric infectious disease clinic during 2010–2016. Women were included if they had at least 2 VL (before and after intervention) obtained during pregnancy. Our primary outcome was the rate of vertical transmission. Secondary outcomes included the rate of VL<1,000 copies/mL and undetectable VL near delivery.

RESULTS:
156 women received PI-based cART and 98 INSTI-based cART. The rate of vertical transmission was 0.6% (1/156) in the PI-group and 3% (3/98) in the INSTI-group (P=.32). After adjusting for confounders, the rate of VL<1,000 copies/mL near delivery was similar among both groups: PI=77.6% (121/156), and INSTI=81.2% (80/98); P=.37. More women in the INSTI-group had undetectable VL near delivery, 75.5% (74/98) vs PI-group, 46.1% (72/156); P=.001.

CONCLUSION:
HIV-infected pregnant women treated with PI- or INSTI-based cART had statistically comparable rates of vertical transmission. Both treatment groups achieved similar rates of VL<1,000 copies/mL near delivery and appeared equivalently efficacious to treat HIV-infected women in pregnancy.
Outcomes of Women age 40 or More Undergoing Cesarean Delivery or Trial of Labor After Cesarean [19OP]
Authors: Ahmadzia Homa , Bathgate Susanne , Macri Charles , Denny Kate , Quinlan Scott , Gimovsky Alexis 
Published: April 2018

INTRODUCTION:
The purpose of this study was to evaluate United States maternal and neonatal outcomes in women age 40 or more undergoing cesarean delivery or trial of labor after cesarean delivery.

METHODS:
We conducted a secondary analysis using the MFMU Cesarean Registry database comparing women age 40 years or more at the time of delivery with those age less than 40 (control group). We excluded multiple gestations. Maternal and neonatal outcomes were compared and Poisson regression was used to adjust for confounders including race and type of delivery.

RESULTS:
A total of 67,389 women met inclusion criteria, of which 2,436 were age >40 year old and 65,403 were <40 at delivery. The >40 group had higher rate of PRBC transfusion (aRR 1.75; 95% CI 1.20–2.56), maternal ICU admission (aRR 2.02; 1.41–2.89), bowel injury (aRR 3.65; 1.43–9.31), placenta accreta (aRR 1.92; 1.09–3.38) and classical uterine incision (aRR 1.59; 1.43–9.31) compared to the control group. Maternal death rates were the same in both groups (P=.30). NICU admission and length of stay (LOS) was significantly higher in the >40 group compared to the control group (aRR 1.17; 1.09–1.25, LOS P=.005). Birth weight was significantly smaller in size of neonates born to women >40 group compared to the control group (3165 grams versus 3214 grams, P=.002).

CONCLUSION:
Women age 40 or more undergoing cesarean delivery or trial of labor after cesarean delivery are more likely to have maternal complications including intraoperative transfusion, maternal ICU admission, abnormal placentation and more complicated surgeries.
Postpartum Intrauterine Device Utilization Rate at an Academic Institution [12F]
Authors: Roche Michael , Kim Jin , Maines Jaimie 
Published: April 2018

INTRODUCTION:
In the first year postpartum, 70% of pregnancies are unintended. Long acting reversible contraceptives, such as intrauterine devices (IUDs), are among the most effective forms of contraception and have been successful in reducing unintended pregnancy rates. Many institutions do not place IUDs until several weeks postpartum despite the American College of Obstetricians and Gynecologists’ recent Committee Opinion No. 670.

METHODS:
A retrospective cohort study was performed among women who delivered from 7/2014 through 6/2015 at our institution. Those who expressed desire to use an IUD as contraception prior to discharge from the hospital following delivery were included. Billing lists with ICD-10 codes for IUD insertion were used to cross reference inpatient lists from the postpartum hospital stays. Primary outcome measure was percentage of patients who had an IUD inserted by three months postpartum. Additional reasons for not receiving an IUD were examined.

RESULTS:
196 patients were identified who desired an IUD for postpartum contraception, and 86 (43.9%) received one. The most common reason for not receiving an IUD was loss to follow up (60%). Other reasons included choosing to use another form of contraception: hormonal (28.1%), barrier (9.1%), or abstinence (1.8%).

CONCLUSION:
More than half of our patients do not receive their desired method of postpartum contraception. As loss to follow up is the most common reason, institution of immediate postplacental IUD placement may allow for increased utilization and fewer unintended pregnancies. Further study is necessary to elucidate the barriers to immediate postpartum contraception.
Evaluating the Availability of Ulipristal Acetate in Eastern Long Island [15F]
Authors: Korotkaya Yelena , Schmidt Elizabeth 
Published: April 2018

INTRODUCTION:
Ulipristal acetate (UPA) was approved by the FDA in 2010 as a form of emergency contraception (EC), which can be taken within 120 hours of unprotected sex. Evidence has shown that UPA is more effective than oral levonorgestrel emergency contraceptive pills (LNG-ECP) and more cost effective. UPA is more effective in patients with a BMI >30. No studies have looked at the availability of UPA in New York State. We specifically looked at Long Island due to its population density.

METHODS:
We conducted an observational population-based study utilizing a telephone-based secret shopper methodology. Researchers called 200 unique retail pharmacies in Long Island from May 2016-July 2017, representing themselves as patients and physicians.

RESULTS:
Only 9.5% of pharmacies had UPA immediately available, although 81% reported ability to order UPA. In contrast, 80% reported having LNG-ECP readily available. Only 47% of pharmacists who had UPA available could correctly identify its differences from LNG-ECP. 82% of pharmacists in the physician call group were unfamiliar with UPA. In addition, 0% of pharmacists mentioned BMI as an important difference in efficacy between UPA and LNG-ECP.

CONCLUSION:
Although UPA is the more effective EC than LNG-ECP, its availability is limited. Knowledge of UPA is lacking in pharmacists and clinicians alike. Increasing education of clinicians, pharmacists and patients regarding differences between EC pills may assist in increasing demand for UPA and could increase overall availability of UPA.
Prevalence, and Pattern of LARC Use in Immediate Postpartum Period at Jimma University Medical Center, Ethiopia [18F]
Authors: Arero Wariyo , Teka Woubishet , Jarso Habtamu 
Published: April 2018

INTRODUCTION:
Postpartum family planning (PPFP) is defined as the prevention of unintended pregnancy and closely spaced pregnancies through the first twelve months following childbirth. Immediate postpartum period is particularly favorable time to provide LARC methods and postpartum provision of LARC is safe and effective. Despite the advantages of LARCs, they are infrequently used in Ethiopia.

METHODS:
A cross-sectional study was conducted on 393 women who gave birth at Jimma University Medical Centre (JUMC) from November 12, 2016 to January 21, 2017. Data were collected by face-to-face interview and record review using pre-tested questionnaire and analysed using SPSS 20. Logistic regression was used to identify associated factors for LARC method use.

RESULTS:
Prevalence of LARCs use among immediate postpartum mothers was 53.2% and more than three quarter (78.0%) of participants used Implanon. The most common reported reasons for not using LARC were preference of other method (25.5%). Having more than four alive kids (95% CI: 1.15-5.95), high monthly income (95% CI: 1.08-7.20), planning to delay next pregnancy by more than two years (95% CI: 1.60-9.28), previous experience of LARC use (95% CI: 1.30- 7.20), completed family size (95% CI:1.12- 3.15), and most importantly receiving counselling during antenatal care (ANC) follow up and before delivery (95% CI 1.01- 4.73) were associated with immediate postpartum LARC use.

CONCLUSION:
Utilisation of immediate postpartum LARC methods use among counselled mothers was high compared to other low income countries reviewed.
The need for providing counselling during ANC follow up and delivery to increase utilisation of immediate postpartum LARC use is emphasised.
Outcomes of Pulmonary Hypertension in Pregnancy in an Academic Hospital in Ethiopia [31F]
Authors: Whelan Anna , Yeman Awol , Briller Joan , Nixon Heather , Hailu Abraha , Goba Gelila 
Published: April 2018

INTRODUCTION:
Pulmonary hypertension (PH) is a rare disease that is infrequently associated with pregnancy. However, when present in the parturient, it can be devastating. In the developed world, mortality from PH during pregnancy and postpartum decreased from 50% in the 1970s to 16% in 2014. Proper management requires a multidisciplinary team approach and close follow up. In the developing world, physicians face many challenges when caring for these complicated patients.

METHODS:
A case series of 20 patients with pulmonary hypertension who were treated at Mekelle University Hospital, Ethiopia.

RESULTS:
20 cases of severe PH from September 2015 to September 2017 were reviewed. Average systolic pulmonary arterial pressure measured by echocardiography was 104.1 mmHg (SD 11.4, range 83-134 mmHg). Etiology was attributed to chronic rheumatic valvular heart disease in 17 patients and congenital heart defects in 3 patients. Eight patients had disease classified NYHA functional class III or IV heart failure (40%). There were 5 confirmed deaths (25%). Eleven patients underwent cesarean deliveries, 4 underwent vaginal deliveries with assisted second stage. Three patients underwent termination of pregnancy and 2 died prior to delivery. Death was caused by pulmonary edema in 3 cases and pulmonary venous thromboembolism in 2 cases. Sixty-five percent of pregnancies resulted in live birth.

CONCLUSION:
Pulmonary hypertension complicating pregnancy continues to be a highly morbid disease worldwide. Increased mortality in this study may reflect differences in etiology as well as delays in diagnosis and reduced access to healthcare. Multidisciplinary teams including cardiology, anesthesia, and obstetrics, are important to improving maternal and fetal outcomes.
Small Bowel Obstruction in Pregnancy: A Systematic Review [32F]
Authors: Sagi Yair , Bussiere-Cote Sophie , Meier Kennedy , Bischoff Danielle , D'Souza Rohan 
Published: April 2018

INTRODUCTION:
The objective of this study was to review pregnancy outcomes and management options in pregnant women presenting with small bowel obstruction (SBO).

METHODS:
We conducted a systematic review of all studies describing SBO in pregnant women from 2006. Four bibliographic databases were searched using appropriate MeSH terms and keywords. Two reviewers independently screened articles and extracted data from eligible studies. Outcomes were described as proportions.

RESULTS:
We identified 3656 studies and included 78 describing 92 pregnancies. Most presented in the third (60%) or second (37%) trimesters. The commonest risk-factor was previous abdominal surgery (49%), presenting symptoms were abdominal pain (88%) and vomiting (67%) and examination findings were tenderness (49%) and distension (28%). Abnormal laboratory parameters were seen only in 26%. Diagnosis was confirmed on ultrasound (49%), computerized tomography (39%), X-ray (15%) or magnetic resonance imaging (14%). Conservative management was only successful in 4%, and laparoscopic surgery was only performed in 7%. The commonest aetiologies were adhesions (30%), internal hernias (25%) and volvulus (24%) and the commonest site was the ileum (37%). Maternal complications included death (4%), bowel perforation (14%), hypovolemic shock (12%) and sepsis (8%), while perinatal complications included prematurity (45%), low birthweight (11), stillbirths (9%) and neonatal death (4%). Almost 50% of the deliveries were by caesarean, to facilitate simultaneous surgical intervention for SBO, 88% of which were performed preterm.

CONCLUSION:
SBO is associated with high rates of adverse pregnancy outcomes, caesarean deliveries and iatrogenic prematurity. An algorithm for prompt diagnosis and management is needed to improve maternal and perinatal outcomes.
Identifying Trends in GBS Prophylaxis Patterns Within an Underserved Patient Population [37F]
Authors: Mora Nelsi 
Published: April 2018

INTRODUCTION:
GBS infections remain the most common cause of early onset neonatal sepsis in the United States. ACOG deems addressing perinatal GBS status and achieving adequate intrapartum prophylaxis the standard of care. Due to reported lapses in adequate intrapartum prophylaxis of GBS positive and unknown mothers at our institution, this study aims to identify trends in institutional GBS prophylaxis patterns following the standardization of admission notes.

METHODS:
This study was conducted in a single, University-based, urban teaching hospital with a historically disproportionate number of patients presenting in labor with insufficient to no prenatal care. An electronic medical record query was performed to enumerate the number of recorded institutional deliveries, the number of discharged infants born to mothers receiving insufficient to no prenatal care, and infants with inadequate intrapartum GBS prophylaxis at delivery.

RESULTS:
The monthly distribution of mothers and babies details that 7% of infants were born to mothers with insufficient prenatal care, and 92% of these infants had an unknown GBS status at delivery. An R-squared data plot model measured the data fitted to a regression line in relation to infants born with inadequate GBS prophylaxis, revealing: R2 = 0.29, 0.28; p values = 0.058, 0.07; infants totaling 0.4% receiving inadequate intrapartum GBS prophylaxis.

CONCLUSION:
This retrospective data review was performed to identify if changes in a system’s based practice affected trends in practice outcomes in an underserved urban population. The investigation and analysis of perinatal GBS prophylaxis patterns intrapartum may contribute to decreased institutional perinatal morbidity and mortality.