Chromosomal aberrations in idiopathic polyhydramnios: A systematic review and meta-analysis

Sagi‐Dain, Lena; Sagi, Shlomi

doi:10.1016/j.ejmg.2015.06.010

Cited by 19 publications

(9 citation statements)

References 24 publications

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“…The percentage of genetic defects estimated in our study was 3.1%. This result is similar to the outcomes obtained by Yefet et al (3.7%) and the meta-analysis published in 2015 [8,11]. On the basis of the analysis of 1729 pregnancies with polyhydramnios of the unknown etiology, Sagi-Dain estimated the risk of chromosomal aberration at 2.8 ± 3.7%.…”

Section: Discussionsupporting

confidence: 89%

Follow-up of children with antenatally diagnosed idiopathic polyhydramnios

et al. 2019

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Objectives: The aim of our work was to assess the development of children with antenatally diagnosed idiopathic polyhydramnios, over 12 months from the end of pregnancy. Material and methods: The study included 91 healthy pregnant patients with idiopathic polyhydramnios. Diagnostic tests results and perinatal medical history were obtained retrospectively. Parents of children were contacted by phone and by mail. The answers were obtained from 64 (70%) parents. For statistical analysis SigmaStat3.5 software was used. Results: Ninety six percent of parents declared that in their opinion the development of children was normal. Abnormalities were found in 44% of the children. Thirty percent of neonates demonstrated mild abnormalities which may be due to organic or functional neuromuscular disorders: abnormal muscle tone, speech apparatus and development disorders, swallowing and breathing problems (manifested as vomiting, excessive regurgitation, idiopathic apnoeas). Isolated small malformations were diagnosed in 12 (19%) children. Two children (3%) with SGA were diagnosed with genetic syndromes. More than one of the abnormalities described above were diagnosed in 14% of children. Gestational age at the time of polyhydramnios diagnosis and its severity were not prognostic factors for abnormalities. Seventy percent of newborns were male. Conclusions: Despite the subjectively positive assessment of the development of children by the majority of parents, groups of common disorders requiring long-term follow-up have been identified. Functional disorders of the gastrointestinal tract, CNS and the group of neuromuscular disorders may be responsible for idiopathic polyhydramnios. SGA with co-existing idiopathic polyhydramnios is associated with the risk of genetic diseases. The more frequent incidence of idiopathic polyhydramnios in male fetuses requires further research.

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Section: Discussionsupporting

confidence: 89%

Follow-up of children with antenatally diagnosed idiopathic polyhydramnios

et al. 2019

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“…Previous studies examining the outcome of pregnancies complicated by polyhydramnios have reported discordant results on the prevalence of chromosomal and genetic disorders, which varied between 2% and 16% among the different reports. 6,[9][10][11]13,14,16,17 This discordance could be partially related to the differences in the level of laboratory testing and ascertainment of genetic diseases in the postnatal period, as suggested by the higher rate of genetic disorders in studies with a longer postnatal follow-up compared to those in which outcome data were based on standard prenatal testing or clinical assessment in the immediate neonatal period. In this study, a clinical follow-up program of at least 6 months postnatally was undertaken in all cases, allowing to diagnose rare genetic disorders that can only be detected based on targeted laboratory testing and specific phenotypic or clinical features (Table 3).…”

Section: Discussionmentioning

confidence: 99%

Prenatal ultrasound factors and genetic disorders in pregnancies complicated by polyhydramnios

et al. 2016

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“…Polyhydramnios, which is an increased amount of amniotic fluid, complicates approximately 1-2% of all pregnancies [1,2]. The diagnosis is made by two-dimensional ultrasound finding of the amniotic fluid index (AFI) > 24 cm or the maximal amniotic pocket (MAP) > 8 cm [3].…”

Section: Introductionmentioning

confidence: 99%

Polyhydramnios — frequency of congenital anomalies in relation to the value of the amniotic fluid index

Kornacki

Adamczyk²,

Wirstlein³

et al. 2017

Ginekol Pol

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Objectives: The aims of our study were to assess the correlation between the amniotic fluid index (AFI) value and the frequency and type of fetal anomalies. Material and methods:The material included 94 patients at the third trimester of pregnancy, 60 with mild polyhydramnios, 19 with moderate one, and 15 with severe one. Polyhydramnios was diagnosed if AFI was > 24 cm. All patients were divided into three groups based on the value of AFI: 1) mild polyhydramnios with AFI between 24.1 and 29.9 cm, 2) moderate polyhydramnios with AFI between 30-34.9 cm, and 3) severe polyhydramnios with AFI ≥ 35 cm. Results:The incidence of fetal malformations correlated significantly with the degree of polyhydramnios and was the highest in patients with severe polyhydramnios (53.3%, p = 0.002). Congenital malformations of the gastrointestinal tract were the most frequent fetal anomalies in the whole group of patients (5.3%). Trisomy 18 was the most frequent aneuploidy found in women with polyhydramnios (2.1%). Conclusions:1. The incidence of fetal congenital anomalies significantly increases with the degree of polyhydramnios, being most frequent in severe one and rather rare in a mild one. 2. Congenital malformations of the gastrointestinal tract were the most frequent anomalies in patients with polyhydramnios, especially in women with severe polyhydramnios.

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Chromosomal aberrations in idiopathic polyhydramnios: A systematic review and meta-analysis

Cited by 19 publications

References 24 publications

Follow-up of children with antenatally diagnosed idiopathic polyhydramnios

Follow-up of children with antenatally diagnosed idiopathic polyhydramnios

Prenatal ultrasound factors and genetic disorders in pregnancies complicated by polyhydramnios

Polyhydramnios — frequency of congenital anomalies in relation to the value of the amniotic fluid index

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