Jane Chueh

Microfluidic digital PCR enables rapid prenatal diagnosis of fetal aneuploidy

OBJECTIVE The purpose of this study was to demonstrate that digital polymerase chain reaction (PCR) enables rapid, allele independent molecular detection of fetal aneuploidy. STUDY DESIGN Twenty-four amniocentesis and 16 chorionic villus samples were used for microfluidic digital PCR analysis. Three thousand and sixty PCR reactions were performed for each of the target chromosomes (X, Y, 13, 18, and 21), and the number of single molecule amplifications was compared to a reference. The difference between target and reference chromosome counts was used to determine the ploidy of each of the target chromosomes. RESULTS Digital PCR accurately identified all cases of fetal trisomy (3 cases of trisomy 21, 3 cases of trisomy 18, and 2 cases of triosmy 13) in the 40 specimens analyzed. The remaining specimens were determined to have normal ploidy for the chromosomes tested. CONCLUSION Microfluidic digital PCR allows detection of fetal chromosomal aneuploidy utilizing uncultured amniocytes and chorionic villus tissue in less than 6 hours.

Prospective randomized trial of simulation versus didactic teaching for obstetrical emergencies.

Introduction: The objective of this study was to determine whether simulation was more effective than traditional didactic instruction to train crisis management skills to labor and delivery teams. Methods: Participants were nurses and obstetric residents (<5 years experience). Both groups were taught management for shoulder dystocia and eclampsia. The simulation group received 3 hours of training in a simulation laboratory, the didactic group received 3 hours of lectures/video and hands-on demonstration. Subjects completed a multiple-choice questionnaire before training and before testing. After 1 month, all teams underwent performance testing as a labor and delivery drill. All drills were video recorded. Team performances were scored by a blinded reviewer using the video recordings and an expert-developed checklist. The data were analyzed using independent samples Student t test and analysis of variance (one way). P value of ≤0.05 was considered to be statistically significant. Results: There was no statistical difference found between the groups on the pretraining and pretesting multiple-choice questionnaire scores. Performance testing performed as a labor and delivery drill showed statistically significant higher scores for the simulation-trained group for both shoulder dystocia (Sim = 11.75, Did = 6.88, P = 0.002) and eclampsia management (Sim = 13.25, Did = 11.38, P = 0.032). Conclusions: In an academic training program, didactic and simulation-trained groups showed equal results on written test scores. Simulation-trained teams had superior performance scores when tested in a labor and delivery drill. Simulation should be used to enhance obstetrical emergency training in resident education.

Chorionic villus sampling: technique and training

Purpose of review Over the past decade, first trimester screening has become the gold standard prenatal screening modality in the developed world. This shift toward earlier screening would not be possible without the availability of early diagnosis, namely, chorionic villus sampling (CVS). The purpose of this review is to highlight recent updates related to CVS technique, potential complications, and training. Recent findings Recent data highlight the importance of operator experience in reducing CVS-related complications and argues for the ‘centralization’ of CVS in experienced centers. On the other hand, despite over 30 years of clinical practice, there is still no consensus regarding optimal CVS technique and some variation exists between CVS providers. Moreover, there is a deficiency in adequate infrastructure geared toward the training and certification of future CVS providers. Summary CVS is the gold standard method of first trimester prenatal diagnosis. Recent data suggest that CVS loss rates are lower than what was previously reported and are lowest in centers that perform a large number of procedures. The ‘centralization’ of this specialized procedure also offers the perfect opportunity for the safe, ongoing training of future CVS providers.

Detection of Sonographic Markers of Fetal Aneuploidy Depends on Maternal and Fetal Characteristics

The purpose of this study was to determine factors that influence the detection rate of sonographic markers of fetal aneuploidy (SMFA).

Nonsurgical management of heterotopic abdominal pregnancy.

BACKGROUND: Heterotopic abdominal pregnancies with coexisting intrauterine pregnancies pose unique therapeutic challenges, and management options, particularly nonsurgical approaches, are limited. CASE: We present a case in which selective reduction of a heterotopic abdominal pregnancy during the second trimester using fetal intracardiac injection with potassium chloride enabled subsequent vaginal delivery of the intrauterine pregnancy at term. In addition, we summarize nine cases of nonsurgical management of heterotopic abdominal pregnancies, four of which involve potassium chloride selective reduction. Our case is unique in that the abdominal fetus remained as a stable lithopedion, allowing the uncomplicated conception and vaginal delivery of a second intrauterine pregnancy without need for surgical intervention. CONCLUSION: Our case report and literature review demonstrate the use of selective potassium chloride reduction in managing heterotopic abdominal pregnancy nonsurgically.

Variable expression of soluble fms-like tyrosine kinase 1 in patients at high risk for preeclampsia.

Objective. To explore angiogenic factor differences in preeclamptic patients according to the absence or presence of underlying vascular disease. Methods. We prospectively compared serum soluble fms-like tyrosine kinase 1 (sFlt1), soluble endoglin, and placental growth factor (PlGF) from 41 normal-risk and 32 high-risk (preexisting conditions) subjects at serial gestational ages. Results. Median sFlt1 was lower at delivery in preeclamptic patients with underlying chronic hypertension and/or chronic proteinuria (5115 pg/ml) compared with normal risk preeclamptic patients (16375 pg/ml). PlGF was consistently low in patients who developed preeclampsia. Conclusions. Effects of sFlt1 may be contextual, varying according to the health or disease state of vascular endothelium.

Maternal bladder cancer diagnosed at routine first-trimester obstetric ultrasound examination.

BACKGROUND: Bladder cancer is exceedingly rare in pregnancy and most commonly presents with gross hematuria. CASES: We describe two patients with the incidental finding of maternal bladder masses identified during routine first-trimester obstetric ultrasonographic evaluation and an ultimate diagnosis of carcinoma. After referral for urology evaluation and biopsy confirmation of bladder cancer, patients underwent surgical resection during their pregnancies without the need for further treatment and had uncomplicated pregnancy courses. CONCLUSION: The distended maternal urinary bladder at the time of first-trimester ultrasonographic evaluation offers a unique opportunity for examination and early diagnosis of incidental maternal bladder carcinoma.

Fetofetal Transfusion Syndrome in Monochorionic-Triamniotic Triplets Treated with Fetoscopic Laser Ablation: Report of Two Cases and A Systematic Review

Objective This study aims to determine the clinical outcomes of monochorionic-triamniotic (MT) pregnancies complicated by severe fetofetal transfusion undergoing laser photocoagulation. Study Design We report two cases of MT triplets complicated by fetofetal transfusion syndrome (FFTS) and a systematic review classifying cases into different subtypes: MT with two donors and one recipient, MT with one donor and two recipients, MT with one donor, one recipient, and one unaffected triplet. The number of neonatal survivors was analyzed based on this classification as well as Quintero staging. Results A total of 26 cases of MT triples complicated by FFTS were analyzed. In 56% of the cases, the FFTS involved all three triplets, 50% of whom had an additional donor and 50% an additional recipient. Among the 24 cases that survived beyond 1 week after the procedure, the average gestational age of delivery was 29.6 weeks, and the average interval from procedure to delivery was 10.1 weeks. The overall neonatal survival rate was 71.7%, with demises occurring equally between donor and recipient triplets. Overall neonatal survival including survival of at least two fetuses occurred with equal frequency between the different groups. Conclusion Significant neonatal survival can be achieved in most cases of MT triplets with FFTS.

Prenatally Diagnosed Cases of Binder Phenotype Complicated by Respiratory Distress in the Immediate Postnatal Period

Binder phenotype, or maxillonasal dysostosis, is a distinctive pattern of facial development characterized by a short nose with a flat nasal bridge, an acute nasolabial angle, a short columella, a convex upper lip, and class III malocclusion. We report 3 cases of prenatally diagnosed Binder phenotype associated with perinatal respiratory impairment.

Urachal duct carcinoma complicating pregnancy.

BACKGROUND: Degenerating myomas are common explanations for pain associated with abdominal masses in pregnancy. However, masses arising from other pelvic organs should be included in the differential diagnosis. CASE: We present a case of an abdominal mass in pregnancy that was originally misdiagnosed as a uterine leiomyoma. Attention to the patients history along with judicious use of imaging modalities led to the correct diagnosis of urachal duct carcinoma. This was treated appropriately and resulted in a term vaginal delivery. We present a review of the literature on this tumor and its management in pregnancy. CONCLUSION: Urologic malignancies are rare but should be considered in the differential diagnosis for any woman presenting with pain and an abdominal mass in pregnancy. A multidisciplinary approach optimizes outcomes.