Mary Beth Janicki

Determining a cutoff for fetal lung maturity with lamellar body count testing.

Objective. A lamellar body count (LBC) ≥50,000/μl is suggested to document fetal lung maturity (FLM). We sought to determine the LBC threshold for FLM with the Cell-dyn 4000 hematology analyser. Methods. We queried our database for patients who underwent LBC testing from 2001 to 2007. Included were deliveries between 35 and 38 weeks gestation with testing ≤7 days from delivery. We excluded twins, anomalies and cases of ruptured membranes. Data were analysed for sensitivity and specificity of predicting respiratory distress syndrome (RDS) and plotted on a receiver operating characteristic curve. Results. There were 209 patients meeting study criteria. Of these, 120 had diabetes. Five neonates experienced RDS, all born to non-diabetic mothers with LBC values ≤72,000/μl. At this value the sensitivity is 100%, false positive rate 18% and the p value is 0.0146. Conclusion. Our results question the 50,000/μl threshold and demonstrate the need for hematology analyser specific thresholds.

Efficacy of the Genetic Sonogram in a Stepwise Sequential Protocol for Down Syndrome Screening

The purpose of this study was to evaluate the efficacy of the genetic sonogram in Down syndrome screening for women who have received the stepwise sequential test.

Isolated Single Umbilical Artery and Fetal Echocardiography: A 25-Year Experience at a Tertiary Care City Hospital

To review our 25‐year experience with a single umbilical artery and fetal echocardiography to estimate the need for this test in cases of an isolated single umbilical artery.

Trisomy 9 presenting in the first trimester as a fetal lateral neck cyst and increased nuchal translucency

Abstract Background Fetal lateral neck cysts are transient fluid accumulations that result from abnormal lymphatic formations. In the first trimester, fetal lateral neck cysts accompanied by an increased nuchal translucency have been associated with aneuploidy, single-gene disorders and other malformations. Highlights We describe a case in which a lateral neck cyst, which measured 6.7 × 4 × 6.2 mm, was detected by ultrasonography in the first trimester with the additional finding of increased nuchal translucency (3.7 mm; >95th percentile). No other abnormalities were detected at that time. Standard cell-free DNA screening resulted in no aneuploidy detected for chromosomes 21, 18, 13 and the sex chromosomes. The patient declined diagnostic testing with chorionic villus sampling. A repeat ultrasound at 16 weeks’ gestation demonstrated a normally grown fetus with persistence of the cyst, which measured 4.9 × 5 × 8.4 mm, as well as a pericardial effusion with a single outflow tract overriding the ventricular septum and vermian hypoplasia. The diagnosis of trisomy 9, 47,XX,+9, was made by amniocentesis and the patient opted for termination of the pregnancy. Conclusions This report illustrates the importance of identifying additional abnormalities in a fetus with lateral neck cysts, documenting the size of the cysts and obtaining diagnostic genetic testing.