Whole Exome Sequencing and Whole Genome Sequencing for Nonimmune Fetal/Neonatal Hydrops

This clinical trial, titled "Whole Exome Sequencing and Whole Genome Sequencing for Nonimmune Fetal/Neonatal Hydrops" (study ID: NCT03911531), is a genetic research study investigating the cause of nonimmune hydrops fetalis — a serious condition where abnormal fluid accumulates in a fetus or newborn. In many cases the cause is unknown, and standard chromosome tests come back normal. This study uses advanced genetic sequencing (whole exome and genome sequencing) to search for rare genetic mutations that might explain why hydrops occurs. The study enrolls pregnant women (or parents of affected newborns) where hydrops has been identified after the first trimester, and where standard testing including chromosome analysis and infection screening have not found a cause. Both parents must be available for blood sample collection. This study requires that an amniocentesis is already planned as part of routine workup. You may be eligible if you: - Have a fetus or newborn identified with hydrops (abnormal fluid accumulation) - The hydrops was identified after the first trimester of pregnancy - Standard chromosome and infection testing has been normal - Both parents are available to provide blood samples - The pregnancy was conceived without donor egg or sperm You may NOT be eligible if you: - Had an abnormal chromosome test result (karyotype or microarray) - Hydrops is caused by a confirmed infection or fetomaternal hemorrhage - Parental DNA cannot be obtained - Donor egg or donor sperm was used for conception - The fetus/infant has been diagnosed with a lysosomal storage disease - Either parent is under 16 years of age - Hydrops was diagnosed along with fetal death Talk to your doctor to see if this trial is right for you.