Blended Phenotypes From a SERPINA 11 Pathogenic Variant Over Underlying Immune Fetal Hydrops: A Rare Case Report and Literature Review  

作　　者：Manisha M.Beck Noel D.Luke Reena Sakte Anand Preethi Navaneethan Rekha Athiyarath Sumita Danda 

机构地区：[1]Fetal Medicine Unit,Department of Obstetrics and Gynecology,Christian Medical College and Hospital,Vellore,Tamil Nadu 632004,India [2]Department of Medical Genetics,Christian Medical College and Hospital,Vellore,Tamil Nadu 632004,India

出　　处：《Maternal-Fetal Medicine》2024年第4期257-261,共5页母胎医学杂志（英文）

摘　　要：Fetal hydrops can stem from immune or nonimmune causes.Immune causes often involve red cell alloimmunization,whereas nonimmune causes encompass structural malformations,aneuploidy,infections,lymphatic system disorders,genetic syndromes,and more.In a rare and complex case,we encountered a fetal hydrops presentation characterized by blended phenotypes,indicating both a genetic and an underlying immune etiology.The mother,Rhesus negative,presented with a history of adverse obstetric events.At 21 weeks,the current fetus was diagnosed with hydrops.Maternal blood tests unveiled Rhesus alloimmunization,featuring a positive indirect Coombs test at a 1:512 dilution and the presence of anti-D,anti-C,and anti-E antibodies.Fetal blood sampling revealed an O-positive blood group with a hemoglobin level of 10 gm/dL.Despite administering intrauterine transfusion to the fetus,there was no improvement;instead,the fetal hydrops worsened,accompanied by the emergence of nuchal and axillary masses.Exome sequencing of fetal DNA revealed the fetus was homozygous for a pathogenic variant in the SERPINA11 gene and compound heterozygous for a pathogenic variant in the PIEZO1 gene.Furthermore,the combination of pathogenic variants in SERPINA11 and PIEZO1 genes has not been described in cases of fetal hydrops before.This case posed significant challenges in management due to the concurrent presence of both immune and nonimmune hydrops.We describe some of the diagnostic challenges faced in clinical management of this case.

关 键 词：Fetal chylothorax SERPINA11 gene Rhesus alloimmunization Fetal hydrops Prenatal diagnosis Blended phenotypes 

分 类 号：R714.5[医药卫生—妇产科学]