与胎儿生长受限有关的尿道下裂:一项多中心描述性和预测性队列研究

IF 2.7 2区 医学 Q2 GENETICS & HEREDITY Prenatal Diagnosis Pub Date : 2024-11-05 DOI:10.1002/pd.6699
Manon Marquet, Olivia Anselem, Claire Bouvattier, Alexandre J Vivanti, Alexandra Benachi, Jean-Marie Jouannic, Olivier Picone, Jonathan Rosenblatt, Laurent J Salomon, Vassilis Tsatsaris, Yoann Athiel
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引用次数: 0

摘要

目的确定遗传和内分泌异常的发生率,并评估与胎儿生长受限相关的尿道下裂病例的胎儿、新生儿和手术结果:在巴黎的五家产前诊断中心开展了一项多中心回顾性研究。研究对象包括2013年至2021年期间被诊断为胎儿生长受限<10百分位数(FGR)和尿道下裂的所有胎儿。研究人员收集了母体数据、胎儿结果和产前检查结果,以及包括内分泌和遗传评估、功能方面和手术结果在内的产后数据:在82例患者中,有14例(17%)终止妊娠,4例(5%)宫内死亡,剩下64例(78%)活产新生儿,包括5例(6%)新生儿早期死亡。在 52 例(63%)尿道下裂和胎儿畸形被视为超声分离异常的病例中,有 6 例(12%,[3.2%-20.8%])表现出染色体、基因或内分泌异常,其中一半是产前诊断,一半是产后诊断。尿道下裂患者中50%为近端尿道下裂。大多数患儿在两岁前接受了手术治疗,其中50%的患儿出现了并发症,通常需要再次手术治疗:结论:FGR 和尿道下裂的关联不容低估,因为即使尿道下裂和 FGR 最初看起来是孤立的,但也会发现遗传或内分泌异常。此外,复杂而反复的手术可能会加重整体预后。
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Hypospadias Associated With Fetal Growth Restriction: A Multicentric Descriptive and Prognostic Cohort Study.

Objective: To determine the prevalence of genetic and endocrine abnormalities and to assess fetal, neonatal and surgical outcomes in cases of hypospadias associated with fetal growth restriction.

Method: A multicentric retrospective study was conducted across five prenatal diagnosis centers in Paris. The cohort encompassed all fetuses diagnosed with the combination of fetal growth restriction < 10th percentile (FGR) and hypospadias from 2013 to 2021. Maternal data, fetal outcome and results of prenatal investigations were collected, along with postnatal data, encompassing endocrinological and genetic assessments, functional aspects and surgical outcomes.

Results: Among the 82 patients included in the cohort, there were 14 (17%) terminations of pregnancy and four (5%) in utero deaths, leaving 64 (78%) live neonates, including five (6%) with early neonatal death. Among the 52 (63%) cases where hypospadias and FGR were considered as ultrasound-isolated anomalies, six (12%, [3.2%-20.8%]) exhibited chromosomic, genetic, or endocrinological abnormalities diagnosed half prenatally and half postnatally. Fifty percent of the overall hypospadias were proximal. Most children underwent surgical intervention before reaching 2 years of age, with 50% encountering complications and often required reintervention.

Conclusion: The association of FGR and hypospadias should not be underestimated as genetic or endocrinological abnormalities were identified even when hypospadias and FGR initially appear isolated. Additionally, the overall prognosis may be worsened using complex and iterative surgical procedures.

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来源期刊
Prenatal Diagnosis
Prenatal Diagnosis 医学-妇产科学
CiteScore
5.80
自引率
13.30%
发文量
204
审稿时长
2 months
期刊介绍: Prenatal Diagnosis welcomes submissions in all aspects of prenatal diagnosis with a particular focus on areas in which molecular biology and genetics interface with prenatal care and therapy, encompassing: all aspects of fetal imaging, including sonography and magnetic resonance imaging; prenatal cytogenetics, including molecular studies and array CGH; prenatal screening studies; fetal cells and cell-free nucleic acids in maternal blood and other fluids; preimplantation genetic diagnosis (PGD); prenatal diagnosis of single gene disorders, including metabolic disorders; fetal therapy; fetal and placental development and pathology; development and evaluation of laboratory services for prenatal diagnosis; psychosocial, legal, ethical and economic aspects of prenatal diagnosis; prenatal genetic counseling
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