704: Obstetric Outcomes in Cases of First Trimester Cystic Hygroma

ObjectiveTo determine obstetric outcomes in pregnancies diagnosed with a cystic hygroma in the first trimester.Study DesignA multi-center retrospective study of 1,975 records of patients with increased NT (≥2.5mm) and/or cystic hygroma that presented between 2000 and 2010 yielded 631 patients with cystic hygroma. Patients had ultrasound examinations between 10 weeks 3 days and 13 weeks 6 days. Cystic hygroma was defined as “an enlarged hypoechoic space at the back of the fetal neck, extending along the length of the fetal back, and in which septations were clearly visible.”ResultsObstetric outcome data were available for 453 of the 631 fetuses diagnosed with cystic hygroma. 276 (60%) underwent elective termination, 103 (22.7%) were born alive (6% of them with Down's syndrome), 67 (14.8%) miscarried before 24 weeks, 5 (1.1%) had fetal loss after 24 weeks and 2 (0.4%) suffered neonatal death.Of the electively terminated pregnancies we found that 76 (27.5%) had a normal karyotype, 148 (53.6%) had an abnormal karyotype, and no karyotype was available for 52 (18.8%) subjects. Of all genetic abnormalities, Trisomy 21 (32.4%) was the most frequently detected, followed by Monosomy X and Trisomy 18 (23.6% each). Trisomy 13 was detected in 8% while Mosaicism and Triploidies were both diagnosed in 2%. 8% had other abnormal karyotypes.ConclusionsMany pregnant women (60%) diagnosed with cystic hygroma terminate their pregnancy. A significant percentage (27.5%) of those terminations have a normal karyotype. ObjectiveTo determine obstetric outcomes in pregnancies diagnosed with a cystic hygroma in the first trimester. To determine obstetric outcomes in pregnancies diagnosed with a cystic hygroma in the first trimester. Study DesignA multi-center retrospective study of 1,975 records of patients with increased NT (≥2.5mm) and/or cystic hygroma that presented between 2000 and 2010 yielded 631 patients with cystic hygroma. Patients had ultrasound examinations between 10 weeks 3 days and 13 weeks 6 days. Cystic hygroma was defined as “an enlarged hypoechoic space at the back of the fetal neck, extending along the length of the fetal back, and in which septations were clearly visible.” A multi-center retrospective study of 1,975 records of patients with increased NT (≥2.5mm) and/or cystic hygroma that presented between 2000 and 2010 yielded 631 patients with cystic hygroma. Patients had ultrasound examinations between 10 weeks 3 days and 13 weeks 6 days. Cystic hygroma was defined as “an enlarged hypoechoic space at the back of the fetal neck, extending along the length of the fetal back, and in which septations were clearly visible.” ResultsObstetric outcome data were available for 453 of the 631 fetuses diagnosed with cystic hygroma. 276 (60%) underwent elective termination, 103 (22.7%) were born alive (6% of them with Down's syndrome), 67 (14.8%) miscarried before 24 weeks, 5 (1.1%) had fetal loss after 24 weeks and 2 (0.4%) suffered neonatal death.Of the electively terminated pregnancies we found that 76 (27.5%) had a normal karyotype, 148 (53.6%) had an abnormal karyotype, and no karyotype was available for 52 (18.8%) subjects. Of all genetic abnormalities, Trisomy 21 (32.4%) was the most frequently detected, followed by Monosomy X and Trisomy 18 (23.6% each). Trisomy 13 was detected in 8% while Mosaicism and Triploidies were both diagnosed in 2%. 8% had other abnormal karyotypes. Obstetric outcome data were available for 453 of the 631 fetuses diagnosed with cystic hygroma. 276 (60%) underwent elective termination, 103 (22.7%) were born alive (6% of them with Down's syndrome), 67 (14.8%) miscarried before 24 weeks, 5 (1.1%) had fetal loss after 24 weeks and 2 (0.4%) suffered neonatal death. Of the electively terminated pregnancies we found that 76 (27.5%) had a normal karyotype, 148 (53.6%) had an abnormal karyotype, and no karyotype was available for 52 (18.8%) subjects. Of all genetic abnormalities, Trisomy 21 (32.4%) was the most frequently detected, followed by Monosomy X and Trisomy 18 (23.6% each). Trisomy 13 was detected in 8% while Mosaicism and Triploidies were both diagnosed in 2%. 8% had other abnormal karyotypes. ConclusionsMany pregnant women (60%) diagnosed with cystic hygroma terminate their pregnancy. A significant percentage (27.5%) of those terminations have a normal karyotype. Many pregnant women (60%) diagnosed with cystic hygroma terminate their pregnancy. A significant percentage (27.5%) of those terminations have a normal karyotype.