限制堕胎时代胎儿三倍体的自然史:一个案例系列[ID: 1380133]

A. Moustafa, S. Araji, Natalie Clericuzio, D. Frieson, L. Hendon
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摘要

简介:三倍体是一种染色体异常,发生在所有怀孕的1-3%,经常导致早期自然流产。三倍体胎儿存活到出生是极其罕见的。新生儿通常在分娩后数小时至数天内死亡。在2022年7月Dobbs v Jackson妇女健康组织裁决之后,堕胎的机会变得越来越有限,因此提供者应该考虑与三倍体相关的不良孕产妇健康结果。方法:在这个病例系列中,我们描述了我们在1年内(2021-2022年)在我们中心遇到的3例确诊的胎儿三倍体。2020年7月1日,众议院1259号法案在密西西比州通过,禁止基于种族、性别或基因异常终止妊娠,这三起案件都被提交给我们。结果:我们的第一例病例是一名21岁的患者,在19周2天因妊娠中期血清筛查异常而被转诊。超声显示多囊胎盘增大及多胎畸形。羊膜穿刺术显示69,xxy核型。病人得到了周到的治疗。在第21周5天,患者被诊断为伴有严重特征的叠加性子痫前期。病人接受了药物终止妊娠。第二个病例是一名25岁的妇女,在30周0天时因担心胎儿异常而转诊。超声证实多胎畸形。羊膜穿刺术显示69,xxy核型。患者被诊断为先兆子痫和肺水肿,于30周1天分娩。这名新生儿在出生22天后就去世了。我们的第三个病例是一名20岁的患者,在24周0天进行异常非整倍体筛查。超声显示严重的心脏缺陷和严重的胎儿生长受限。羊膜穿刺术显示69,xxy核型。病人得到了周到的治疗。29周0天诊断宫内胎儿死亡。患者被诊断为围产期抑郁症。结论:受胎儿三倍体影响的妊娠妇女有发生先兆子痫的危险。限制堕胎将导致产妇发病率和死亡率上升。
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The Natural History of Fetal Triploidy in an Era of Limited Abortion Access: A Case Series [ID: 1380133]
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.
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