Susan P. Pauker

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PURPOSE To evaluate with sonography the normal development of the fetal cerebellum in the second trimester. MATERIALS AND METHODS The study included all patients undergoing second trimester genetic amniocentesis who had structurally normal fetuses, in whom the posterior fossa was adequately seen and in whom the karyotype was later determined to be normal.(More)
Over the past decade we have used a decision analytic model to counsel 840 patients (468 women, 381 men, 432 couples) about amniocentesis for prenatal diagnosis. The model explicitly considers the possibilities of miscarriage (both after amniocentesis and spontaneously), an affected child (as a function of maternal age), and various diagnostic errors.(More)
The decision which prospective parents face concerning mid-trimester amniocentesis for prenatal diagnosis was examined by decision analysis. The prospective parents' decision depends on the likelihood of the birth of a child affected by a genetic disorder, the risk of amniocentesis, and the probability that the diagnoses provided by the amniocentesis will(More)
Formal prescriptive models can help patients and clinicians better understand the risks and uncertainties they face and better formulate well-reasoned decisions. Using Bayes rule, the clinician can interpret pedigrees, historical data, physical findings and laboratory data, providing individualized probabilities of various diagnoses and outcomes of(More)
OBJECTIVE To investigate the relationship between elevated maternal serum alpha-fetoprotein (MSAFP) and abnormal placental adherence (placenta accreta/percreta/increta). METHODS We reviewed the MSAFP levels of 11 women who had cesarean hysterectomies because of placenta accreta/percreta/increta. The control group consisted of 14 women who delivered by(More)
In this study, we determined the outcome in cases of isolated nuchal lucency seen sonographically in the first trimester in fetuses without karyotypic abnormalities. We reviewed all cases of isolated localized fetal nuchal lucency (3 mm or greater) in 9 to 14 week fetuses over a 4 year period. Fetuses with additional sonographic abnormalities were excluded.(More)
Despite the clinical significance of balanced chromosomal abnormalities (BCAs), their characterization has largely been restricted to cytogenetic resolution. We explored the landscape of BCAs at nucleotide resolution in 273 subjects with a spectrum of congenital anomalies. Whole-genome sequencing revised 93% of karyotypes and demonstrated complexity that(More)