The Natural History of Fetal Triploidy in an Era of Limited Abortion Access: A Case Series [ID: 1380133

Abstract

INTRODUCTION: Triploidy is a chromosomal abnormality that occurs in 1–3% of all conceptions and often results in early spontaneous miscarriage. It is exceedingly rare for a triploid fetus to survive to birth. Neonates usually die within hours to days after delivery. After the Dobbs v Jackson Women's Health Organization ruling in July 2022, access to abortion is becoming increasingly limited, and therefore providers should consider the adverse maternal health outcomes that can be associated with triploidy. METHODS: In this case series, we describe three cases of confirmed fetal triploidy that we encountered in our center within 1 year (2021–2022). All three cases were referred to us after House Bill 1259 was passed on July 1, 2020, in Mississippi banning termination of pregnancy based on race, sex, or genetic abnormality. RESULTS: Our first case is a 21-year-old patient referred at 19 weeks 2 days for abnormal second-trimester serum screen. Ultrasound showed an enlarged multicystic placenta and multiple fetal anomalies. Amniocentesis showed a 69,XXY karyotype. Patient was managed expectantly. At 21 week 5 days, patient was diagnosed with superimposed preeclampsia with severe features. Patient underwent medical termination of pregnancy. The second case is a 25-year-old referred at 30 weeks 0 days for concerns of fetal anomalies. Ultrasound confirmed multiple fetal anomalies. Amniocentesis showed a 69,XXY karyotype. Patient was diagnosed with preeclampsia and pulmonary edema and was delivered at 30 weeks 1 day. The neonate passed away at 22 days of life. Our third case is a 20-year-old referred at 24 weeks 0 days for abnormal aneuploidy screening. Ultrasound showed a major cardiac defect and severe fetal growth restriction. Amniocentesis showed a 69,XXY karyotype. Patient was managed expectantly. At 29 weeks 0 days, intrauterine fetal demise was diagnosed. Patient was diagnosed with peripartum depression. CONCLUSION: Women with pregnancies affected by fetal triploidy are at risk of developing preeclampsia. Restricting access to abortion will lead to increased maternal morbidity and mortality rates.