Ultrasound prenatal diagnosis of typical megacystis, microcolon, intestinal hypoperistalsis syndrome

Buinoiu, Natalia Florina; Panaitescu, Anca Maria; Demetrian, Mihaela; Ionescu, S; Peltecu, Gheorghe; Veduță, Alina

doi:10.1002/ccr3.1481

Cited by 10 publications

(6 citation statements)

References 14 publications

(20 reference statements)

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“…Most initial ultrasound findings were reported in the second trimester. Multiple subsequent case reports have supported these ultrasound findings and their timeline of detection [7][8][9]. MMIHS is most commonly seen with normal or increased amniotic fluid volume; this was supported in the 2014 review (95% of cases) and is collaborated by other case reports.…”

Section: Implications Of Ultrasonographymentioning

confidence: 80%

“…Although MMIHS is primarily diagnosed clinically, there are modalities that aid with diagnosis, which include ultrasonography, fetal MRI, amniotic fluid digestive enzyme assays and fetal urine analysis by vesicocentesis [5], abdominal radiography, upper gastrointestinal series, contrast enema and genomic sequencing (which ultimately confirms the diagnosis). The diagnosis is confirmed through genomic sequencing (whole exome sequencing or targeted sequencing) [6,7]. Ultrasonographic diagnosis has shown promise in improving overall outcomes by providing a means of detection of features in utero.…”

Section: Implications Of Ultrasonographymentioning

confidence: 99%

See 1 more Smart Citation

Antenatal Recognition of Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIHS): An Impact on Neonatal Prognosis

Joseph¹,

Gore²,

O'Connell³

et al. 2020

J Rare Disord Diagn Ther

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Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) syndrome is an autosomal recessive disorder (in some cases) characterized by a microcolon, a distended non-obstructed bladder, and decreased or absent intestinal peristalsis. MMIHS is not commonly diagnosed in the antenatal period due to its rarity and similarities with other more common antenatal conditions. Late diagnosis is associated with poorer prognosis. Prenatal diagnosis helps parents make decisions about their pregnancy guided by pediatric prenatal consultation regarding interventions and prognosis. Most medical and surgical interventions focus on complications of MMIHS after postnatal diagnosis. This case report discusses the prenatal diagnosis of MMIHS using serial ultrasonography and the early interventions designed foreseeable complications resulting in an extension of life beyond the historical limits.

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Section: Implications Of Ultrasonographymentioning

confidence: 80%

Section: Implications Of Ultrasonographymentioning

confidence: 99%

Antenatal Recognition of Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIHS): An Impact on Neonatal Prognosis

Joseph¹,

Gore²,

O'Connell³

et al. 2020

J Rare Disord Diagn Ther

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“…Second, “other diagnoses”, including syndromic disease (prune belly syndrome, megacystis-microcolon-intestinal hypoperistalsis syndrome) and other diagnoses not corresponding to obstructive causes. When pregnancy was continued, neonatal outcomes were obtained from medical records and pediatric care [ 31 – 34 ].…”

Section: Methodsmentioning

confidence: 99%

Megacystis in the first trimester of pregnancy: Prognostic factors and perinatal outcomes

et al. 2021

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Objective To determine whether bladder size is associated with an unfavorable neonatal outcome, in the case of first-trimester megacystis. Materials and methods This was a retrospective observational study between 2009 and 2019 in two prenatal diagnosis centers. The inclusion criterion was an enlarged bladder (> 7 mm) diagnosed at the first ultrasound exam between 11 and 13+6 weeks of gestation. The main study endpoint was neonatal outcome based on bladder size. An adverse outcome was defined by the completion of a medical termination of pregnancy, the occurrence of in utero fetal death, or a neonatal death. Neonatal survival was considered as a favorable outcome and was defined by a live birth, with or without normal renal function, and with a normal karyotype. Results Among 75 cases of first-trimester megacystis referred to prenatal diagnosis centers and included, there were 63 (84%) adverse outcomes and 12 (16%) live births. Fetuses with a bladder diameter of less than 12.5 mm may have a favorable outcome, with or without urological problems, with a high sensitivity (83.3%) and specificity (87.3%), area under the ROC curve = 0.93, 95% CI (0.86–0.99), p< 0.001. Fetal autopsy was performed in 52 (82.5%) cases of adverse outcome. In the 12 cases of favorable outcome, pediatric follow-up was normal and non-pathological in 8 (66.7%). Conclusion Bladder diameter appears to be a predictive marker for neonatal outcome. Fetuses with smaller megacystis (7–10 mm) have a significantly higher chance of progressing to a favorable outcome. Urethral stenosis and atresia are the main diagnoses made when first-trimester megacystis is observed. Karyotyping is important regardless of bladder diameter.

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“…megacystis) include autosomal recessive megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) and megacystis-megaureter syndrome, neither of which manifest true urethral obstruction. 10,11 Apart from known aneuploidy and these other syndromic risks, additional genetic etiologies of prenatally suspected LUTO are not completely understood. Our group sought to utilize pooled data from several centers to determine what additional genetic etiologies in the form of single gene disorders have been identified in the era of molecular sequencing.…”

Section: Introductionmentioning

confidence: 99%

“…Additional syndromic associations of what may initially present as a LUTO—like picture (i.e. megacystis) include autosomal recessive megacystis‐microcolon‐intestinal hypoperistalsis syndrome (MMIHS) and megacystis‐megaureter syndrome, neither of which manifest true urethral obstruction 10,11 . Apart from known aneuploidy and these other syndromic risks, additional genetic etiologies of prenatally suspected LUTO are not completely understood.…”

Section: Introductionmentioning

confidence: 99%

The utility of gene sequencing in identifying an underlying genetic disorder in prenatally suspected lower urinary tract obstruction

Brar,

Blakemore,

Hertenstein

et al. 2023

Prenatal Diagnosis

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ObjectiveFetal megacystis generally presents as suspected lower urinary tract obstruction (LUTO), which is associated with severe perinatal morbidity. Genetic etiologies underlying LUTO or a LUTO—like initial presentation are poorly understood. Our objectives are to describe single gene etiologies in fetuses initially ascertained to have suspected LUTO and to elucidate genotype‐phenotype correlations.MethodsA retrospective case series of suspected fetal LUTO positive for a molecular diagnosis was collected from five centers in the Fetal Sequencing Consortium. Demographics, sonograms, genetic testing including variant classification, and delivery outcomes were abstracted.ResultsSeven cases of initially prenatally suspected LUTO‐positive for a molecular diagnosis were identified. In no case was the final diagnosis established as urethral obstruction that is, LUTO. All variants were classified as likely pathogenic or pathogenic. Smooth muscle deficiencies involving the bladder wall and interfering with bladder emptying were identified in five cases: MYOCD (2), ACTG2 (2), and MYH11 (1). Other genitourinary and/or non‐genitourinary malformations were seen in two cases involving KMT2D (1) and BBS10 (1).ConclusionOur series illustrates the value of molecular diagnostics in the workup of fetuses who present with prenatally suspected LUTO but who may have a non‐LUTO explanation for their prenatal ultrasound findings.

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Ultrasound prenatal diagnosis of typical megacystis, microcolon, intestinal hypoperistalsis syndrome

Cited by 10 publications

References 14 publications

Antenatal Recognition of Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIHS): An Impact on Neonatal Prognosis

Antenatal Recognition of Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIHS): An Impact on Neonatal Prognosis

Megacystis in the first trimester of pregnancy: Prognostic factors and perinatal outcomes

The utility of gene sequencing in identifying an underlying genetic disorder in prenatally suspected lower urinary tract obstruction

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