Fetal Hydrocolpos Leading to Pierre Robin Sequence: An Unreported Effect of Oligohydramnios Sequence

Aggarwal, Satish Kumar; Kumar, Ajay

doi:10.1038/sj.jp.7210846

Cited by 13 publications

(7 citation statements)

References 10 publications

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“…As prenatal diagnosis of craniofacial anomalies has become increasingly available (Rogers-Vizena et al, 2016; Kooiman et al, 2017), more interest has been focused on determining the syndromic status of a fetus predicted to have RS (D’Alton and DeCherney, 1993). Amniotic fluid level has been considered a marker for developmental abnormalities and has been implicated in the etiopathogenesis of RS (Aggarwal and Kumar, 2003; Evans et al, 2006; Kaufman et al, 2016). The purpose of this study, therefore, was to determine whether a relationship exists between the occurrence of abnormal amniotic fluid level and a syndromic diagnosis in a series of participants with RS.…”

Section: Discussionmentioning

confidence: 99%

“…Both polyhydramnios, defined as excessive amniotic fluid in the uterine sac during gestation, and oligohydramnios, or deficient amniotic fluid, have been implicated in the etiopathogenesis of RS (Aggarwal and Kumar, 2003; Evans et al, 2006; Bütow et al, 2016; Kaufman et al, 2016). The purpose of this study, therefore, was to evaluate amniotic fluid level as a predictor for syndromic diagnosis in participants with RS.…”

Section: Introductionmentioning

confidence: 99%

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Is Amniotic Fluid Level a Predictor for Syndromic Diagnosis in Robin Sequence?

Kluivers

Calabrese

Resnick

2018

The Cleft Palate-Craniofacial Journal

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Objective: The purpose of this study was to determine whether gestational amniotic fluid level abnormalities were associated with postnatal syndromic status in a series of patients with Robin sequence (RS). Design: Retrospective study of participants with RS at Boston Children’s Hospital from 1967 to 2017. Participants were divided into syndromic and nonsyndromic groups. The primary predictor variable was postnatal syndromic diagnosis (yes/no). Additional predictor variables included gestational age at birth, birthweight, sex, presence of cleft palate, and other congenital anomalies. The primary outcome variable was amniotic fluid level (normal, oligohydramnios, or polyhydramnios). Descriptive statistics were computed and logistic regression was used to analyze amniotic fluid level as a predictor for syndromic diagnosis. Statistical significance was set at P < .05. Results: Sixty-five (54%) syndromic and 56 (46%) nonsyndromic RS participants were included. An abnormal amniotic fluid level was seen significantly more frequently in the syndromic group (49.2% vs 25.0%; P = .001). Abnormal amniotic fluid level was associated with a 2.9-fold increased likelihood of a syndromic diagnosis (P = .007). Polyhydramnios, which was seen more frequently than oligohydramnios, predicted a 4.18 times increased likelihood of a syndromic diagnosis (P = .003). Conclusions: Abnormal amniotic fluid level, particularly polyhydramnios, is associated with an increased likelihood of a syndromic diagnosis in patients with RS.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Is Amniotic Fluid Level a Predictor for Syndromic Diagnosis in Robin Sequence?

Kluivers

Calabrese

Resnick

2018

The Cleft Palate-Craniofacial Journal

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“…In theory, etiologies such as alcohol abuse during pregnancy, environmental factors, and hereditary factors resulting in micrognathia early in development can lead to PRS [ 9 ]. Mechanical obstructions including uterine compression, oligohydramnios, and fibroids may be related to abnormal mandibular growth [ 6 , 10 - 12 ]. Specific gene mutations and chromosomal anomalies including translocations, deletions, and duplications have also been documented in patients with syndromic, non-syndromic, and isolated PRS.…”

Section: Introductionmentioning

confidence: 99%

16p13.3 duplication associated with non-syndromic pierre robin sequence with incomplete penetrance

Sun

Zhang

et al. 2014

Mol Cytogenet

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BackgroundPierre Robin sequence (PRS) is a condition present at birth. It is characterized by micrognathia, cleft palate, upper airway obstruction, and feeding problems. Multiple etiologies including genetic defects have been documented in patients with syndromic, non-syndromic, and isolated PRS.Case presentationWe report a 4-year-old boy with a complex small supernumerary marker chromosome (sSMC) who had non-syndromic Pierre Robin sequence (PRS). The complex marker chromosome, der(14)t(14;16)(q11.2;p13.13), was initially identified by routine chromosomal analysis and subsequently characterized by array-comparative genomic hybridization (array CGH) and confirmed by fluorescence in situ hybridization (FISH). Clinical manifestations included micrognathia, U-type cleft palate, bilateral congenital ptosis, upslanted and small eyes, bilateral inguinal hernias, umbilical hernia, bilateral clubfoot, and short fingers and toes. To our best knowledge, this was the first case diagnosed with non-syndromic PRS associated with a complex sSMC, which involved a 3.8 Mb gain in the 14q11.2 region and an 11.8 Mb gain in the 16p13.13-pter region.ConclusionsWe suggest that the duplicated chromosome segment 16p13.3 possibly may be responsible for the phenotypes of our case and also may be a candidate locus of non-syndromic PRS. The duplicated CREBBP gene within chromosome 16p13.3 is associated with incomplete penetrance regarding the mandible development anomalies. Further studies of similar cases are needed to support our findings.

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“…Interestingly, a case report by Aggarwal and Kumar [31] suggested that oligohydramnios may be a causative factor in the development of PRS, as decrease in amniotic fluid may lead to mechanical deformational forces on the developing facial architecture. As there is no clear consensus on the role amniotic fluid has on PRS, there seems to be no benefit to incorporate these findings into a screening algorithm.…”

Section: Polyhydramniosmentioning

confidence: 99%

Prenatal Identification of Pierre Robin Sequence: A Review of the Literature and Look towards the Future

Kaufman¹,

Cassady

Hyman³

et al. 2015

Fetal Diagn Ther

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Fetal ultrasonography is an important tool used to prenatally diagnose many craniofacial conditions. Pierre Robin sequence (PRS) is a rare congenital deformation characterized by micrognathia, glossoptosis, and airway obstruction. PRS can present as a perinatal emergency when the retropositioned tongue obstructs the airway leading to respiratory compromise. More predictable and reliable diagnostic studies could help the treating medical team as well as families prepare for these early airway emergencies. The medical literature was reviewed for different techniques used to prenatally diagnose PRS radiologically. We have reviewed these techniques and suggested a possible diagnostic pathway to consistently identify patients with PRS prenatally.

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Fetal Hydrocolpos Leading to Pierre Robin Sequence: An Unreported Effect of Oligohydramnios Sequence

Cited by 13 publications

References 10 publications

Is Amniotic Fluid Level a Predictor for Syndromic Diagnosis in Robin Sequence?

Is Amniotic Fluid Level a Predictor for Syndromic Diagnosis in Robin Sequence?

16p13.3 duplication associated with non-syndromic pierre robin sequence with incomplete penetrance

Prenatal Identification of Pierre Robin Sequence: A Review of the Literature and Look towards the Future

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