Genetic abnormalities seen on CVS in early pregnancy failure.

Objective: To determine the frequency and distribution of chromosome abnormalities in women with early pregnancy failure (EPF) detected by cytogenetic testing on chorionic villus sampling.Method: Retrospective observational cohort study of chromosomal analysis from transvaginal chorionic villus sampling (CVS) or reflex products of conception (POC) karyotype. CVS was offered as a training tool for Maternal Fetal Medicine fellows prior to manual vacuum aspiration for EPF 9-week gestation. POC were analyzed for cytogenetics if no results were obtained on CVS.Results: One hundred thirty samples were collected from December 2011 to April 2015. 33 (27.3%) cases had a normal karyotype and 88 (73.0%) cases had an abnormal karyotype. The most common group of abnormalities were trisomy, (n = 50, 41.3%), triploidy/tetraploidy, (n = 17, 14.0%), monosomy (n = 15, 12.4%), and structural rearrangements (n = 6, 5.0%). Nine (6.9%) samples were maternal decidua only. Abnormal karyotype in EPF was significantly increased in women by age group (p < .01) but not in women with a history of prior miscarriage (p = .5).Conclusion: Our cohort had a high detection rate of aneuploidy. The most common chromosomal abnormalities in EPF were: trisomy, followed by triploidy/tetraploidy, monosomy, and structural rearrangements. Maternal age had the strongest correlation with EPF associated with aneuploidy.

How many procedures does it take? Success of a CVS training program for Maternal Fetal Medicine fellows.

OBJECTIVES: To quantify the learning curve for a training program for Maternal Fetal Medicine (MFM) fellows in obtaining successful transvaginal chorionic villus sampling (CVS) results in women with early pregnancy failure (EPF). METHODS: Retrospective observational cohort study of transvaginal CVS and subsequent manual vacuum aspiration (MVA) performed by MFM fellows. CVS samples were sent for karyotype, and products of conception (POC) were sent if CVS sample did not yield a result. Success was defined as karyotype result on CVS specimen. RESULTS: A total of 130 women with EPF up to 9 weeks of gestation underwent transvaginal CVS and MVA from December 2011 to April 2015. CVS samples were successful in 53 (40.8%) cases, POC were analyzed for karyotype in 68 (52.3%) cases, and maternal decidua was obtained in 9 (6.9%) cases. Nine MFM fellows performed the CVS and MVA procedures. The mean number of procedures per fellow was 14 (5-24). The average success rate of transvaginal CVS sample was 33.3% after the first procedure and 50% at the 14th procedure. One procedure was performed per patient. CONCLUSIONS: Success increased over time from 33.3% to 50.0%. Given the gestational age and failed pregnancy status, this is a reasonable success rate for CVS at time of EPF. © 2016 John Wiley & Sons, Ltd.

Implementation of a universal cervical length screening program for the prevention of preterm birth.

OBJECTIVE: The objective of this article is to evaluate the implementation and acceptability of a universal cervical length (CL) screening program for prediction and prevention of preterm birth (PTB). STUDY DESIGN: We performed a prospective observational study to evaluate the implementation and acceptability of a universal CL screening program. Between January 1, 2012, and December 31, 2012, women with singleton gestations, without a cerclage or prior spontaneous PTB, were offered transvaginal ultrasound (TVU) for CL between 18(0/7) and 23(6/7) weeks' gestation. Sonographers and medical staff received education before implementation. Intervention for a short CL was interpreted according to a standard protocol. On June 1, 2012, our program was modified from "opt-in" to "opt-out." SPSS 20.0 (released 2011, IBM statistics for Windows version 20, IBM Corp., Armonk, NY) was used for analysis. RESULTS: Over 12 months, 1,484 (87%) of 1,706 eligible women were offered CL screening, and 1,119 (75%) were actually screened. Women were more likely to accept CL screening if they were nulliparous versus multiparous (83 vs. 68%, p < 0.001) and if the sonographer was female versus male (83 vs. 42%, p < 0.001). Implementation of an "opt-out" protocol did not increase the overall number of women accepting CL screening compared with an "opt-in" approach (76 vs. 75%, p = 0.81) CONCLUSION: Universal CL screening can be feasibly implemented and is acceptable to most women.

Early pregnancy failure as a training tool for chorionic villus sampling.

OBJECTIVES: The goal of this study is to evaluate the success of a training program in chorionic villus sampling (CVS) of early pregnancy failure (EPF) for maternal-fetal medicine (MFM) fellows. METHODS: We conducted a retrospective review of a new training program in CVS for MFM fellows. Women with EPF up to 13 weeks estimated gestational age were offered inclusion in our program and counseled on alternatives. Transcervical CVS was performed for both fellow education and cytogenetic diagnosis. The primary outcome was a successful diagnosis, and the secondary outcome was cell growth by fellow experience. RESULTS: Thirty-nine patients diagnosed with EPF from December 2011 to March 2013 underwent CVS. Villi obtained via CVS yielded a diagnosis in 62% of cases. CVS samples with successful karyotype had more villi but were otherwise similar. CVS by experience showed a trend towards increased success and villi volume after the first five procedures. Abnormal results were obtained in 72% of cases, 15% of which led to changes in care. CONCLUSION: CVS of EPF is an option for the training of MFM fellows as it was acceptable to most patients, and the majority of CVS specimens yielded a karyotype diagnosis.

The Polish National Registry for Fetal Cardiac Pathology: organization, diagnoses, management, educational aspects and telemedicine endeavors.

OBJECTIVE: We describe the National Registry for Fetal Cardiac Pathology, a program under the Polish Ministry of Health aimed at improving the prenatal diagnosis, care, and management of congenital heart disease (CHD). METHODS: An online database was created to prospectively record diagnosis, prenatal care, delivery, follow-up, and still images and video for fetuses with CHD. A certification program in fetal cardiac ultrasound was also implemented. Optimal screening and referral centers were identified by number of fetuses entered in the Registry yearly by each center. RESULTS: From 2004 to 2009, 2910 fetuses with CHD were registered (2473 structural, 437 functional anomalies). The most common reasons for referral for fetal echocardiography were abnormal four-chamber view (56.0%) and extra-cardiac anomalies (8.2% ), while the most common diagnoses were atrioventricular septal defects (10.2%) and hypoplastic left heart syndrome (9.7%). Prenatal diagnosis increased yearly, from 10.0% of neonatal diagnoses in 2003 to 38.0% in 2008. CONCLUSION: From inception of the registry up to 2009 there has been a fourfold increase in the number of neonates referred for cardiac surgery in whom the condition was prenatally diagnosed. Equally important achievements include the establishment of a certification program for fetal echocardiography and the organization of prenatal and neonatal management.

Clostridium perfringens Sepsis and Fetal Demise after Genetic Amniocentesis.

Clostridium perfringens is a rare cause of intrauterine infection. There have been five case reports concerning infection associated with invasive procedures. We report a woman who underwent a genetic amniocentesis due to her history of chronic granulomatous disease. She presented to the hospital ∼38 hours after the amniocentesis complaining of fever and chills. Due to acute decompensation, she underwent an emergent dilatation and evacuation. During her stay, blood cultures came back positive for C. perfringens. Gradual improvement with intensive monitoring led to hospital discharge 4 days after the procedure. Uterine infection due to C. perfringens leading to maternal sepsis is associated with a high morbidity and mortality rate. Our patient was able to survive without a hysterectomy due to the rapid administration of antibiotics and surgical intervention while being evaluated.