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Mild fetal ventriculomegaly

MedGen UID:
869206
Concept ID:
C4023628
Anatomical Abnormality
Synonym: Mild foetal ventriculomegaly
 
HPO: HP:0010952

Definition

A kind of ventriculomegaly occurring in the fetal period and usually diagnosed by prenatal ultrasound. Cerebral ventriculomegaly is defined by atrial measurements 10 mm or more. Mild ventriculomegaly (MVM) is defined as measurements between 10 and 15 mm. Measurements are obtained from an axial plane at the level of the thalamic nuclei just below the standard image to measure the BPD (PMID:16100637). [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Mild fetal ventriculomegaly

Conditions with this feature

Combined oxidative phosphorylation defect type 2
MedGen UID:
400626
Concept ID:
C1864843
Disease or Syndrome
A rare mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by severe intrauterine growth retardation, neonatal limb edema and redundant skin on the neck (hydrops), developmental brain defects (corpus callosum agenesis, ventriculomegaly), brachydactyly, dysmorphic facial features with low set ears, severe intractable neonatal lactic acidosis with lethargy, hypotonia, absent spontaneous movements and fatal outcome. Markedly decreased activity of complex I, II + III and IV in muscle and liver have been determined.
Shashi-Pena syndrome
MedGen UID:
934639
Concept ID:
C4310672
Disease or Syndrome
Shashi-Pena syndrome is a neurodevelopmental syndrome characterized by delayed psychomotor development, variable intellectual disability, hypotonia, facial dysmorphism, and some unusual features, including enlarged head circumference, glabellar nevus flammeus, and deep palmar creases. Some patients may also have atrial septal defect, episodic hypoglycemia, changes in bone mineral density, and/or seizures (summary by Shashi et al., 2016).
Ritscher-Schinzel syndrome 4
MedGen UID:
1794149
Concept ID:
C5561939
Disease or Syndrome
Ritscher-Schinzel syndrome-4 (RTSC4) is characterized by a constellation of congenital anomalies, including dysmorphic craniofacial features and structural brain anomalies, such as Dandy-Walker malformation (220200), hindbrain malformations, or agenesis of the corpus callosum, associated with global developmental delay and impaired intellectual development. Congenital cardiac defects have been reported in 1 family (summary by Ritscher et al., 1987 and Jeanne et al., 2021). For a discussion of genetic heterogeneity of Ritscher-Schinzel syndrome, see RTSC1 (220210).
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

Society for Maternal-Fetal Medicine (SMFM);. Electronic address: pubs@smfm.org, Fox NS, Monteagudo A, Kuller JA, Craigo S, Norton ME
Am J Obstet Gynecol 2018 Jul;219(1):B2-B9. Epub 2018 Apr 26 doi: 10.1016/j.ajog.2018.04.039. PMID: 29705191

Recent clinical studies

Etiology

Huang RN, Chen JY, Pan H, Liu QQ
J Matern Fetal Neonatal Med 2022 Dec;35(24):4788-4796. Epub 2020 Dec 28 doi: 10.1080/14767058.2020.1863941. PMID: 33371747
Society for Maternal-Fetal Medicine (SMFM);. Electronic address: pubs@smfm.org, Fox NS, Monteagudo A, Kuller JA, Craigo S, Norton ME
Am J Obstet Gynecol 2018 Jul;219(1):B2-B9. Epub 2018 Apr 26 doi: 10.1016/j.ajog.2018.04.039. PMID: 29705191
Pagani G, Thilaganathan B, Prefumo F
Ultrasound Obstet Gynecol 2014 Sep;44(3):254-60. Epub 2014 Jul 21 doi: 10.1002/uog.13364. PMID: 24623452
Melchiorre K, Bhide A, Gika AD, Pilu G, Papageorghiou AT
Ultrasound Obstet Gynecol 2009 Aug;34(2):212-24. doi: 10.1002/uog.7307. PMID: 19644944
Wyldes M, Watkinson M
Arch Dis Child Fetal Neonatal Ed 2004 Jan;89(1):F9-13. doi: 10.1136/fn.89.1.f9. PMID: 14711845Free PMC Article

Diagnosis

Huang RN, Chen JY, Pan H, Liu QQ
J Matern Fetal Neonatal Med 2022 Dec;35(24):4788-4796. Epub 2020 Dec 28 doi: 10.1080/14767058.2020.1863941. PMID: 33371747
Society for Maternal-Fetal Medicine (SMFM);. Electronic address: pubs@smfm.org, Fox NS, Monteagudo A, Kuller JA, Craigo S, Norton ME
Am J Obstet Gynecol 2018 Jul;219(1):B2-B9. Epub 2018 Apr 26 doi: 10.1016/j.ajog.2018.04.039. PMID: 29705191
Pagani G, Thilaganathan B, Prefumo F
Ultrasound Obstet Gynecol 2014 Sep;44(3):254-60. Epub 2014 Jul 21 doi: 10.1002/uog.13364. PMID: 24623452
Melchiorre K, Bhide A, Gika AD, Pilu G, Papageorghiou AT
Ultrasound Obstet Gynecol 2009 Aug;34(2):212-24. doi: 10.1002/uog.7307. PMID: 19644944
Wyldes M, Watkinson M
Arch Dis Child Fetal Neonatal Ed 2004 Jan;89(1):F9-13. doi: 10.1136/fn.89.1.f9. PMID: 14711845Free PMC Article

Prognosis

Zhu R, Chen JY, Hou XL, Liu LL, Sun GY
BMC Pregnancy Childbirth 2021 Mar 10;21(1):199. doi: 10.1186/s12884-021-03692-x. PMID: 33691645Free PMC Article
Society for Maternal-Fetal Medicine (SMFM);. Electronic address: pubs@smfm.org, Fox NS, Monteagudo A, Kuller JA, Craigo S, Norton ME
Am J Obstet Gynecol 2018 Jul;219(1):B2-B9. Epub 2018 Apr 26 doi: 10.1016/j.ajog.2018.04.039. PMID: 29705191
Pagani G, Thilaganathan B, Prefumo F
Ultrasound Obstet Gynecol 2014 Sep;44(3):254-60. Epub 2014 Jul 21 doi: 10.1002/uog.13364. PMID: 24623452
Melchiorre K, Bhide A, Gika AD, Pilu G, Papageorghiou AT
Ultrasound Obstet Gynecol 2009 Aug;34(2):212-24. doi: 10.1002/uog.7307. PMID: 19644944
Wyldes M, Watkinson M
Arch Dis Child Fetal Neonatal Ed 2004 Jan;89(1):F9-13. doi: 10.1136/fn.89.1.f9. PMID: 14711845Free PMC Article

Clinical prediction guides

Wang X, Zhang S, Wang J, Zhang S, Feng L, Wu Q
Eur J Med Res 2024 Feb 16;29(1):128. doi: 10.1186/s40001-024-01709-7. PMID: 38365795Free PMC Article
Zhu R, Chen JY, Hou XL, Liu LL, Sun GY
BMC Pregnancy Childbirth 2021 Mar 10;21(1):199. doi: 10.1186/s12884-021-03692-x. PMID: 33691645Free PMC Article
Li H, Liu G, Lin F, Liang H
Medicine (Baltimore) 2017 Jul;96(28):e7506. doi: 10.1097/MD.0000000000007506. PMID: 28700500Free PMC Article
Li H, Liang H, Wu H
Congenit Anom (Kyoto) 2017 Mar;57(2):52-56. doi: 10.1111/cga.12197. PMID: 27783870
Pagani G, Thilaganathan B, Prefumo F
Ultrasound Obstet Gynecol 2014 Sep;44(3):254-60. Epub 2014 Jul 21 doi: 10.1002/uog.13364. PMID: 24623452

Recent systematic reviews

Pagani G, Thilaganathan B, Prefumo F
Ultrasound Obstet Gynecol 2014 Sep;44(3):254-60. Epub 2014 Jul 21 doi: 10.1002/uog.13364. PMID: 24623452

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