U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Fetal pyelectasis

MedGen UID:
384527
Concept ID:
C2317073
Disease or Syndrome
Synonyms: Fetal Pyelectases; Fetal Pyelectasis; Prenatal Fetal Pyelectases; Prenatal Fetal Pyelectasis; Pyelectases; Pyelectases, Fetal; Pyelectasis; Pyelectasis, Fetal
SNOMED CT: Fetal pyelectasis (430035004); Dilatation of fetal renal pelvis (430035004)
 
HPO: HP:0010945

Definition

Mild pyelectasis is defined as a hypoechoic spherical or elliptical space within the renal pelvis that measures at least 5mm and not more than 10 mm. The measurement is taken on a transverse section through the fetal renal pelvis using the maximum anterior-to-posterior measurement. [from HPO]

Term Hierarchy

Conditions with this feature

CHROMOSOME 1qter DELETION SYNDROME
MedGen UID:
382926
Concept ID:
C2676727
Disease or Syndrome
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis
MedGen UID:
899982
Concept ID:
C4225295
Disease or Syndrome
PI4KA-related disorder is a clinically variable disorder characterized primarily by neurologic dysfunction (limb spasticity, developmental delay, intellectual disability, seizures, ataxia, nystagmus), gastrointestinal manifestations (multiple intestinal atresia, inflammatory bowel disease), and combined immunodeficiency (leukopenia, variable immunoglobulin defects). Age of onset is typically antenatal or in early childhood; individuals can present with any combination of these features. Rare individuals present with later-onset hereditary spastic paraplegia. Brain MRI findings can include hypomyelinating leukodystrophy, cerebellar hypoplasia/atrophy, thin or dysplastic corpus callosum, and/or perisylvian polymicrogyria.
Developmental and epileptic encephalopathy, 90
MedGen UID:
1786502
Concept ID:
C5542345
Disease or Syndrome
Developmental and epileptic encephalopathy-90 (DEE90) is an X-linked neurologic disorder characterized by onset of refractory seizures in the first days or months of life. Although most patients have focal seizures associated with oromotor automatisms and apnea, various seizure types may occur, including epileptic spasms, generalized tonic-clonic, and absence. EEG shows multifocal discharges; hypsarrhythmia, intermittent burst suppression, and slow spike-wave background resembling Lennox-Gastaut syndrome may also be observed. Affected individuals have global developmental delay with variable severity, but it is usually profound or severe. Some are unable to walk or speak, whereas others may achieve some milestones and show autistic features (summary by Fry et al., 2021). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.
Megacystis-microcolon-intestinal hypoperistalsis syndrome 4
MedGen UID:
1783600
Concept ID:
C5543519
Disease or Syndrome
Megacystis-microcolon-intestinal hypoperistalsis syndrome-4 (MMIHS4) is a severe early-onset disorder characterized by impaired smooth muscle contractility in the bladder and intestines (Kandler et al., 2020). For a discussion of genetic heterogeneity of MMIHS, see 249210.
Neurodevelopmental disorder with hypotonia and brain abnormalities
MedGen UID:
1794187
Concept ID:
C5561977
Disease or Syndrome
Neurodevelopmental disorder with hypotonia and brain abnormalities (NEDHYBA) is characterized by impaired development of motor skills, cognitive function, and speech acquisition beginning in infancy or early childhood. Some affected individuals may have feeding difficulties, seizures, behavioral abnormalities, and nonspecific dysmorphic facial features. Brain imaging shows variable abnormalities, including corpus callosum defects, cerebellar defects, and decreased white matter volume. There is significant phenotypic variability (summary by Duncan et al., 2021).
Hypotonia, infantile, with psychomotor retardation and characteristic facies 3
MedGen UID:
1798903
Concept ID:
C5567480
Disease or Syndrome
Infantile hypotonia with psychomotor retardation and characteristic facies-3 is a severe autosomal recessive neurodevelopmental disorder with onset at birth or in early infancy. Most affected individuals show very poor, if any, normal psychomotor development, poor speech, and inability to walk independently (summary by Bhoj et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of infantile hypotonia with psychomotor retardation and characteristic facies, see IHPRF1 (615419).
Chilton-Okur-Chung neurodevelopmental syndrome
MedGen UID:
1803276
Concept ID:
C5677022
Disease or Syndrome
Chilton-Okur-Chung neurodevelopmental syndrome (CHOCNS) is characterized mainly by global developmental delay with variably impaired intellectual development and occasional speech delay. Most patients have behavioral abnormalities, including autism spectrum disorder, ADHD, and aggression. About half of patients have dysmorphic facial features, and about half have nonspecific brain abnormalities, including thin corpus callosum. Rare involvement of other organ systems may be present. At least 1 child with normal development at age 2.5 years has been reported (Chilton et al., 2020).

Professional guidelines

PubMed

Kim MK, Kim MJ, An JJ, Cha HH, Choi SJ, Oh SY, Roh CR, Kim JH
J Perinat Med 2013 Jul;41(4):401-9. doi: 10.1515/jpm-2012-0214. PMID: 23324372
Signorelli M, Cerri V, Taddei F, Groli C, Bianchi UA
Eur J Obstet Gynecol Reprod Biol 2005 Feb 1;118(2):154-9. doi: 10.1016/j.ejogrb.2004.04.023. PMID: 15653195
Wickstrom E, Maizels M, Sabbagha RE, Tamura RK, Cohen LC, Pergament E
Ultrasound Obstet Gynecol 1996 Oct;8(4):236-40. doi: 10.1046/j.1469-0705.1996.08040236.x. PMID: 8916375

Recent clinical studies

Etiology

Loardi C, Signorelli M, Gregorini M, Marella D, Torri F, Zambelloni CM, Omodei U, Odicino F
J Neonatal Perinatal Med 2020;13(1):91-96. doi: 10.3233/NPM-180071. PMID: 31609706
Orzechowski KM, Berghella V
Ultrasound Obstet Gynecol 2013 Dec;42(6):615-21. Epub 2013 Oct 27 doi: 10.1002/uog.12516. PMID: 23712390
Srinivasan HB, Srinivasan N, Dhungel P, London R, Lampley C, Srinivasan G
J Matern Fetal Neonatal Med 2013 Jan;26(2):166-8. Epub 2012 Sep 25 doi: 10.3109/14767058.2012.722726. PMID: 22928536
Bornstein E, Barnhard Y, Donnenfeld A, Ferber A, Divon MY
Obstet Gynecol 2006 Apr;107(4):877-9. doi: 10.1097/01.AOG.0000206717.66776.a9. PMID: 16582126
Coco C, Jeanty P
Am J Obstet Gynecol 2005 Sep;193(3 Pt 1):732-8. doi: 10.1016/j.ajog.2005.02.074. PMID: 16150267

Diagnosis

Loardi C, Signorelli M, Gregorini M, Marella D, Torri F, Zambelloni CM, Omodei U, Odicino F
J Neonatal Perinatal Med 2020;13(1):91-96. doi: 10.3233/NPM-180071. PMID: 31609706
Orzechowski KM, Berghella V
Ultrasound Obstet Gynecol 2013 Dec;42(6):615-21. Epub 2013 Oct 27 doi: 10.1002/uog.12516. PMID: 23712390
Srinivasan HB, Srinivasan N, Dhungel P, London R, Lampley C, Srinivasan G
J Matern Fetal Neonatal Med 2013 Jan;26(2):166-8. Epub 2012 Sep 25 doi: 10.3109/14767058.2012.722726. PMID: 22928536
Bornstein E, Barnhard Y, Donnenfeld A, Ferber A, Divon MY
Obstet Gynecol 2006 Apr;107(4):877-9. doi: 10.1097/01.AOG.0000206717.66776.a9. PMID: 16582126
Coco C, Jeanty P
Am J Obstet Gynecol 2005 Sep;193(3 Pt 1):732-8. doi: 10.1016/j.ajog.2005.02.074. PMID: 16150267

Therapy

Orzechowski KM, Berghella V
Ultrasound Obstet Gynecol 2013 Dec;42(6):615-21. Epub 2013 Oct 27 doi: 10.1002/uog.12516. PMID: 23712390
Signorelli M, Cerri V, Taddei F, Groli C, Bianchi UA
Eur J Obstet Gynecol Reprod Biol 2005 Feb 1;118(2):154-9. doi: 10.1016/j.ejogrb.2004.04.023. PMID: 15653195
Adra AM, Mejides AA, Dennaoui MS, Beydoun SN
Am J Obstet Gynecol 1995 Oct;173(4):1263-6. doi: 10.1016/0002-9378(95)91367-x. PMID: 7485334

Prognosis

Loardi C, Signorelli M, Gregorini M, Marella D, Torri F, Zambelloni CM, Omodei U, Odicino F
J Neonatal Perinatal Med 2020;13(1):91-96. doi: 10.3233/NPM-180071. PMID: 31609706
Kim DY, Mickelson JJ, Helfand BT, Maizels M, Kaplan WE, Yerkes EB
J Urol 2009 Oct;182(4 Suppl):1849-53. Epub 2009 Aug 19 doi: 10.1016/j.juro.2009.03.025. PMID: 19692076
Bornstein E, Barnhard Y, Donnenfeld A, Ferber A, Divon MY
Obstet Gynecol 2006 Apr;107(4):877-9. doi: 10.1097/01.AOG.0000206717.66776.a9. PMID: 16582126
Coco C, Jeanty P
Am J Obstet Gynecol 2005 Sep;193(3 Pt 1):732-8. doi: 10.1016/j.ajog.2005.02.074. PMID: 16150267
Adra AM, Mejides AA, Dennaoui MS, Beydoun SN
Am J Obstet Gynecol 1995 Oct;173(4):1263-6. doi: 10.1016/0002-9378(95)91367-x. PMID: 7485334

Clinical prediction guides

Loardi C, Signorelli M, Gregorini M, Marella D, Torri F, Zambelloni CM, Omodei U, Odicino F
J Neonatal Perinatal Med 2020;13(1):91-96. doi: 10.3233/NPM-180071. PMID: 31609706
Orzechowski KM, Berghella V
Ultrasound Obstet Gynecol 2013 Dec;42(6):615-21. Epub 2013 Oct 27 doi: 10.1002/uog.12516. PMID: 23712390
Kim DY, Mickelson JJ, Helfand BT, Maizels M, Kaplan WE, Yerkes EB
J Urol 2009 Oct;182(4 Suppl):1849-53. Epub 2009 Aug 19 doi: 10.1016/j.juro.2009.03.025. PMID: 19692076
Coco C, Jeanty P
Am J Obstet Gynecol 2005 Sep;193(3 Pt 1):732-8. doi: 10.1016/j.ajog.2005.02.074. PMID: 16150267
Adra AM, Mejides AA, Dennaoui MS, Beydoun SN
Am J Obstet Gynecol 1995 Oct;173(4):1263-6. doi: 10.1016/0002-9378(95)91367-x. PMID: 7485334

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...