Rose Giardine

Prenatally Diagnosed Beare‐Stevenson Cutis Gyrata Syndrome With a Novel FGFR2 Variant

Haley Crane, Rose Giardine, Alanna Strong, K. Taylor Wild et autres

Key Points What is already known about this topic? What does this study add?

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Evolving Features of RASopathies Among Pregnancies With Abnormal Fetal Fluid Collections

Natalie B. Gulrajani, W. John Boscardin, Billie R. Lianoglou, Katie Tick et autres

OBJECTIVE: We aimed to characterize the fetal features across gestation and describe genotype-phenotype correlations for pregnancies with fetal RASopathies that were more severely affected as they presented with at least one abnormal fluid collection. METHOD: Retrospective cohort study of pregnancies with a …

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P860: Prenatally diagnosed Beare-Stevenson cutis gyrata syndrome with a novel variant

Haley Crane, Rose Giardine, Lisa Pilchman, Renee Wright et autres

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588: Acceptability of cell free fetal DNA screening in an advanced maternal age population

Lorraine Dugoff, Lara Bagby, Samantha A. Everhart, Rose Giardine et autres

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Early ultrasound diagnosis of Neu–Laxova syndrome

Martha Rode, Michael T. Mennuti, Rose Giardine, Elaine H. Zackai et autres

We report the mid-trimester prenatal diagnosis of Neu-Laxova syndrome (NLS) in two at risk families utilizing serial sonographic examinations. Ultrasound and pathologic findings from seven affected pregnancies, the largest case series of NLS to date, are presented. One fetus had anencephaly and …

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Carrier Screening for Cystic Fibrosis

David A. Asch, John C. Hershey, Michael L. DeKay, Mark V. Pauly et autres

OBJECTIVES: To evaluate the costs and clinical effects of 16 alternative strategies for cystic fibrosis (CF) carrier screening in the reproductive setting; and to test the sensitivity of the results to assumptions about cost and detection rate, stakeholder perspective, DNA test specificity, …

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