Borowski, Kristi S

ObjectivesWe evaluated the current state of ultrasound training in obstetrics and gynecology (OB‐GYN) residency programs across the United States.MethodsAn electronic survey was sent to OB‐GYN residency program directors and OB‐GYN residents. Responses were obtained in September 2016. Program directors and residents were asked to reflect on their current ultrasound curriculum.ResultsA total of 93 program directors and 437 residents responded. Respondents were mostly from university programs located in tertiary centers. Ultrasound curricula varied: 11% of program directors and 23% of residents did not have any ultrasound‐related didactics; of those who did, 27% of program directors and 40% of residents had it yearly or less. Three‐quarters had mandatory ultrasound rotations, and few offered ultrasound electives (program directors, 52%; residents, 28%). Most residents were required to perform ultrasound examinations daily or weekly (98%). Most stated that the main focus of the rotation was OB only. Skill was evaluated mainly subjectively by direct observation. Although most program directors stated that residents were satisfactory/excellent in ultrasound, 22% would not treat patients on the basis of ultrasound examinations performed by their senior residents. Similarly, of all postgraduate year 4 respondents (n = 86), 76% stated that they will require additional training to be able to perform or read ultrasound examinations independently, and 43% would not treat a patient on the basis of their own ultrasound examinations without further confirmation. Residents believed that the biggest obstacle in ultrasound training is lack of dedicated faculty time (41%).ConclusionsRecognizing the lack of clearly defined milestones in ultrasound training in OB‐GYN residency, this study confirms the substantial heterogeneity in curricula between programs, highlighting a need for a standardized ultrasound curriculum.

Glomerular damage is common in preeclampsia (PE), but the extent and etiology of tubular injury are not well understood. The aim of this study was to evaluate tubular injury in patients with PE and to assess whether it predates clinical disease. We performed a prospective cohort study of 315 pregnant women who provided urine samples at the end of the second trimester and at delivery. This analysis included women who developed PE ( n = 15), gestational hypertension (GH; n = 14), and normotensive controls (NC; n = 44). Urinary markers of tubular injury, α1-microglobulin (A1M), retinol-binding protein (RBP), kidney-injury molecule-1 (KIM1), complement C5b-9, tissue inhibitor metalloproteinase-2 (TIMP-2), and insulin-like growth factor binding protein-7 (IGFBP-7) were measured by enzyme-linked immunosorbent assay (ELISA) and reported in relation to urine creatinine concentration. Second-trimester concentrations of all markers were similar among groups. At delivery, A1M concentrations were higher in the PE group than in the GH and NC groups as an A1M/creatinine ratio >13 (66.7, 8.3, and 35%, respectively, P = 0.01). Concentrations of C5b-9 were higher in the PE group than in the GH and NC groups (medians 9.85, 0.05, and 0.28 ng/mg, respectively, P = 0.003). KIM1, RBP, TIMP-2, and IGFBP-7 concentrations did not differ among groups at delivery. In conclusion, proximal tubular dysfunction, as assessed by A1M and C5b-9, developed during the interval between the end of the second trimester and delivery in patients with PE. However, this was not matched by abnormalities in markers previously associated with tubular cell injury (KIM-1, IGFBP-7, and TIMP-2).

Background.Noninvasive prenatal screening (NIPS) is revolutionizing prenatal screening as a result of its increased sensitivity, specificity. NIPS analyzes cell-free fetal DNA (cffDNA) circulating in maternal plasma to detect fetal chromosome abnormalities. However, cffDNA originates from apoptotic placental trophoblast; therefore cffDNA is not always representative of the fetus. Although the published data for NIPS testing states that the current technique ensures high sensitivity and specificity for aneuploidy detection, false positives are possible due to isolated placental mosaicism, vanishing twin or cotwin demise, and maternal chromosome abnormalities or malignancy.Results.We report a case of false negative cell-free DNA (cfDNA) screening due to fetoplacental mosaicism. An infant male with negative cfDNA screening result was born with multiple congenital abnormalities. Postnatal chromosome and FISH studies on a blood specimen revealed trisomy 13 in 20/20 metaphases and 100% interphase nuclei, respectively. FISH analysis on tissues collected after delivery revealed extraembryonic mosaicism.Conclusions.Extraembryonic tissue mosaicism is likely responsible for the false negative cfDNA screening result. This case illustrates that a negative result does not rule out the possibility of a fetus affected with a trisomy, as cffDNA is derived from the placenta and therefore may not accurately represent the fetal genetic information.

Multiple anomalies including micromelia, poor mineralization of the vertebrae, and a persistent notochord were identified on second trimester ultrasound in a fetus with aCOL2A1mutation. To our knowledge, this represents the first case of a persistent notochord associated with aCOL2A1mutation in humans. In this case report, we describe ultrasound and postmortem findings and review the pathogenesis associated with a persistent notochord.