Journal articleJ Vitreoretin Dis · 2024
Purpose: To describe a case of early-term planned delivery of a fetus with Norrie disease. Methods: A retrospective chart review was performed. Results: A fetus with an older sibling with bilateral blindness from Norrie disease had positive NPD genetic tes ...
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Journal articleAm J Obstet Gynecol MFM · August 2023
BACKGROUND: To standardize research terminology and to reduce unanticipated placenta accreta spectrum, the European Working Group for Abnormally Invasive Placenta developed a consensus checklist for reporting suspected placenta accreta spectrum observed du ...
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Journal articleJ Ultrasound Med · June 2023
Due to the advancements in pediatric cardiothoracic surgery and medical management, more individuals with congenital heart disease are reaching reproductive age. It is well established that individuals with Fontan circulation are at an increased risk for m ...
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Journal articleRadiographics · 2020
Fetal central nervous system (CNS) abnormalities are second only to cardiac malformations in their frequency of occurrence. Early and accurate diagnosis at prenatal US is therefore essential, allowing improved prenatal counseling and facilitating appropria ...
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Journal articleAm J Hum Genet · November 7, 2019
The advent of inexpensive, clinical exome sequencing (ES) has led to the accumulation of genetic data from thousands of samples from individuals affected with a wide range of diseases, but for whom the underlying genetic and molecular etiology of their cli ...
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Journal articleJ Matern Fetal Neonatal Med · November 2019
Objective: The gestation-adjusted projection (GAP) is a method to predict birthweight using population birth data and third trimester ultrasound fetal weight. This method usually utilizes population birth weight data from almost 40 years ago. In 2011, a la ...
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Journal articleObstet Gynecol Surv · May 2019
IMPORTANCE: Diabetes affects 6% to 9% of pregnancies, with gestational diabetes mellitus accounting for more than 90% of cases. Pregestational and gestational diabetes are associated with significant maternal and fetal risks; therefore, screening and treat ...
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Journal articleAm J Hum Genet · January 3, 2019
The use of whole-exome and whole-genome sequencing has been a catalyst for a genotype-first approach to diagnostics. Under this paradigm, we have implemented systematic sequencing of neonates and young children with a suspected genetic disorder. Here, we r ...
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Journal articleUltrasound Med Biol · April 2018
In this study, we evaluate the clinical utility of fetal short-lag spatial coherence (SLSC) imaging. Previous work has documented significant improvements in image quality with fetal SLSC imaging as quantified by measurements of contrast and contrast-to-no ...
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Journal articleObstet Gynecol Surv · January 2017
Congenital heart disease (CHD) occurs in 4-13 per 1000 births in the United States. While many risk factors for CHD have been identified, more than 90% of cases occur in low-risk patients. Guidelines for fetal cardiac screening during the second trimester ...
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Journal articleAm J Obstet Gynecol · October 2014
OBJECTIVE: The gestation-adjusted projection method (GAP method) uses third trimester ultrasound fetal weight to predict birthweight. Our study sought to assess if the accuracy of the GAP method in morbidly obese women depended on (1) ultrasound timing or ...
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Journal articleRadiol Case Rep · 2013
Anencephaly is a lethal diagnosis. In the unique situation of a twin pregnancy discordant for anencephaly, early ultrasound diagnosis based on the discrepancy in the appearance of the heads can facilitate management and potentially decrease morbidity and m ...
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Journal articleUltrasound Obstet Gynecol · July 2010
Cervicovaginal fistula is a recognized complication of induced mid-trimester termination of pregnancy, but more recently it has also been recognized as representing a complication of prior cervical cerclage. We report the ultrasound findings of prolapse of ...
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Journal articleAJR Am J Roentgenol · April 2008
OBJECTIVE: The purpose of this study was to retrospectively determine the value of adding 3D multiplanar sonography to 2D sonohysterography. MATERIALS AND METHODS: Between September 2003 and April 2005, 80 women (mean age, 43.5 years; range, 26-78 years) u ...
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Journal articleAm J Med Genet A · January 15, 2003
A fetus with trisomy 8 mosaicism was identified prenatally due to an abnormal maternal serum triple screen. Tissue samples were taken at birth to determine the level of trisomy 8 mosaicism found within embryonic and extra-embryonic tissues, rates of cell d ...
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Journal articleJ Comput Assist Tomogr · 2002
Antenatal diagnosis of fetal goiter should be appropriately managed to avoid perinatal complications. Here, we present the MR imaging features of a fetal goiter caused by maternal Graves disease. Diffusely enlarged fetal thyroid gland was seen showing homo ...
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Journal articleJournal of Maternal Fetal and Neonatal Medicine · January 1, 1995
This investigation sought to characterize the syndrome of severe delayed postpartum hemorrhage. We defined the syndrome as hemorrhage requiring hospitalization and/or surgical intervention, occurring after the patients' initial hospital discharge. We evalu ...
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