Where Can I Learn More About Hydrops and Exome Sequencing?

 

Publications By Our Group:

Sparks TN, Lianoglou BR, Adami RR, Pluym ID, Hollian K, Duffy J, Downum SL, Patel S, Faubel A, Boe NM, Field NT, Murphy AM, Laurent LC, Jolley J, Uy C, Slavotinek AM, Devine P, Hodoglugil U, Van Ziffle J, Sanders SJ, MacKenzie TC, Norton ME on behalf of the University of California Fetal-Maternal Consortium and the UCSF Center for Maternal-Fetal Precision Medicine. Exome sequencing for prenatal diagnosis in nonimmune hydrops fetalis. N Engl J Med 2020, in press. (PubMed)

 

Mardy AH, Rangwala N, Hernandez-Cruz Y, Gosnell KA, Gonzalez JM, Norton ME, Sparks TN. Utility of chromosomal microarray for diagnosis in cases of nonimmune hydrops fetalis. Prenat Diagn 2020; Epub ahead of print. (PubMed)

 

Sparks TN, Thao K, Lianoglou BR, Boe NM, Bruce KG, Datkhaeva I, Field NT, Fratto VM, Jolley J, Laurent LC, Mardy AH, Murphy AM, Ngan E, Rangwala N, Rottkamp CAM, Wilson L, Wu E, Uy CC, Valdez Lopez P, Norton ME on behalf of the University of California Fetal-Maternal Consortium (UCfC). Nonimmune hydrops fetalis: identifying the underlying genetic etiology. Genet Med 2019; 21(6):1339-1344. (PubMed)

 

Mardy AH, Chetty SP, Norton ME, Sparks TN. A system-based approach to the genetic etiologies of non-immune hydrops fetalis. Prenat Diagn 2019; 39(9):732-750. (PubMed)

 

Berger VK, Sparks TN, Jelin AC, Derderian C, Jeanty C, Gosnell K, MacKenzie T, Gonzalez JM. Non-immune hydrops fetalis: Do placentomegaly and polyhydramnios matter? J Ultrasound Med 2018; 37(5):1185-1191. (PubMed)

 

Presentations By Our Group:

Sparks TN, Lianoglou BR, Patel S, Adami R, Rangwala N, Datkhaeva I, Holliman K, Downum S, Amezcua J, Boe N, Laurent LC, MacKenzie TC, Murphy A, Sanders S, Slavotinek AM, Norton ME on behalf of the University of California Fetal-Maternal Consortium (UCfC). HyDROPS study: Exome sequencing identifies genetic disorders causing non-immune hydrops fetalis. Presented in oral format at: Annual Meeting of the Society for Maternal-Fetal Medicine (SMFM); Dallas, TX. February 3-8, 2020. (Abstract)

 

Sparks TN, Chen F, Lianoglou BR, Rego S, Patel S, Slavotinek AM, Koenig B, Norton ME.  Agreement to secondary findings with exome sequencing in pre- and postnatal settings. Presented in poster format at: Annual Meeting of the Society for Maternal-Fetal Medicine (SMFM); Dallas, TX. February 3-8, 2020. (Abstract)

 

Mardy AH, Hernandez-Cruz Y, Rangwala N, Gosnell KA, Gonzalez JM, Norton ME, Sparks TN. Utility of chromosomal microarray in cases of non-immune hydrops fetalis. Poster presented at: Annual Meeting of the Society for Maternal-Fetal Medicine (SMFM); Las Vegas, NV. February 11-16, 2019. (Abstract)

 

Sparks TN, Thao K, Lianoglou B, Boe N, Bruce K, Datkaeva I, Field N, Fratto V, Jolley J, Laurent L, Mardy AH, Murphy AM, Rangwala N, Valdez Lopez P, Ngan E, Rottkamp C, Wilson L, Wu E, Uy C, Norton ME for University of California Fetal-Maternal Consortium. Underlying etiologies in prenatally-diagnosed non-immune hydrops fetalis. Poster presented at: Annual Meeting of the Society for Maternal-Fetal Medicine (SMFM); Dallas, TX. January 29-February 3, 2018. (Abstract)

 

In The News:

"DNA Test Identifies Genetic Causes of Severe Fetal and Newborn Illness" (link)

 

"Science Update: DNA sequencing technique helpful for identifying genetic causes of fetal fluid buildup, NIH-funded study suggests" (link)

 

 

Webinar: When Is Exome Sequencing Valuable in Prenatal Diagnosis?
View the webinar, with maternal-fetal medicine specialist, Mary E. Norton, MD, discussing genetic testing options, with a focus on when exome sequencing has value to families. Also, perinatologist, Teresa N. Sparks, MD, presents specifics on exome sequencing for nonimmune hydrops fetalis, caused by many single-gene disorders, plus a look at findings from her current NIHF study.