Abstract

375 The incidence of anomalies in fetuses with cystic hygroma and a normal karyotype Sara Durfee, Chitra Iyer, Asha Heard, Britta Panda, aclyn Coletta, Jessica Scholl, Roa Al Ammari, eremy Kaplan, Cassandre Tanner, Carol Benson Brigham and Women’s Hospital, Boston, MA, Tufts Medical Center, oston, MA, Massachusetts General Hospital, Boston, MA, Columbia University Medical Center, New York, NY, Dartmouth Hitchcock Medical Center, Lebanon, NH OBJECTIVE: To identify the rate and types of anomalies among pregancies affected by cystic hygroma in the first trimester and with a ormal karyotype. STUDY DESIGN: We reviewed records of all patients diagnosed with a fetal septated cystic hygroma between 2000 and 2010 at five institutions. Patients had ultrasound examinations between 10 weeks 3 days and 13 weeks 6 days. Fetal karyotype was obtained from amniocentesis, chorionic villus sampling, pathology or postnatal results. Fetal anomalies were documented from subsequent obstetrical ultrasound reports, autopsy or neonatal records. RESULTS: Of 237 cases of cystic hygroma and normal karyotype, inormation regarding fetal anatomy was available in 154. Of these feuses, 59 (38.3%) had structural abnormalities. These included cariac anomalies in 24 (15.6%), genitourinary anomalies in 15(9.7%), nd central nervous system anomalies in 11 (7.1%). Pregnancy outomes were available in 178 patients and included a live birth in 9(44.3%), termination in 76(42.7%), fetal loss in 22(12.3%) and eonatal death in 1(0.6%). CONCLUSIONS: Fetal structural anomalies are common in fetuses with cystic hygroma diagnosed in the first trimester, even when the karyoype is normal. Our large patient population corroborates the findings f prior studies, including the FASTER trial where 34% of fetuses with cystic hygroma and normal karyotype had major structural fetal alformations.

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