Publications by authors named "Malinger G"

Letters to Editor: The risk for clinically significant copy number variants in pregnancies with two soft markers, Geriatriophobia - a new concept in the medical world in Israel.

View Article and Find Full Text PDF
Article Synopsis
  • The study aimed to characterize perinatal intracranial hemorrhage (pICH), focusing on differences between cases diagnosed before and after birth and analyzing their causes and clinical patterns.
  • Conducted over a decade, the research included 110 pICH cases, revealing that intraventricular hemorrhage (IVH) was most prevalent, particularly in prenatally diagnosed cases, while subpial hemorrhage was exclusively identified postnatally.
  • The findings indicated that genetic disorders contributed to nearly a third of pICH cases, highlighting the necessity for next-generation sequencing to better understand genetic factors associated with prenatally diagnosed hemorrhages.
View Article and Find Full Text PDF
Article Synopsis
  • The study examined the occurrence and characteristics of callosal injury in fetuses affected by cytomegalovirus (CMV) fetopathy using a retrospective analysis of patients with confirmed CMV-PCR.
  • Among 72 patients, 34.7% showed callosal abnormalities, primarily associated with other central nervous system issues like periventricular hyperechogenicity and calcifications.
  • The findings suggest that callosal injury is a common consequence of CMV infection, indicating a worse prognosis and increased risk of neurodevelopmental impairment, with distinct prenatal patterns of injury compared to what is seen postnatally.
View Article and Find Full Text PDF
Article Synopsis
  • * Trio exome sequencing revealed a likely pathogenic variant in the KIDINS220 gene, which is associated with various neurological and developmental disorders.
  • * The case highlights a more severe clinical presentation of the KIDINS220 variant, contrasting with previous limited reports primarily focused on cases with ventriculomegaly.
View Article and Find Full Text PDF

A 36 years old woman in her first pregnancy was referred at 24w3d for a dedicated neurosonographic examination due to a suspected short corpus callosum (CC). The examination depicted a dysgenetic CC with asymmetric thickness at the level of the body in coronal views, very thin in the midline and thicker in both sides, suggesting bilateral formation of Probst bundles. The BPD, HC, and transverse cerebellar diameters were in the normal low range without associated growth restriction.

View Article and Find Full Text PDF

These guidelines follow the mission of the World Association of Perinatal Medicine, in collaboration with the Perinatal Medicine Foundation, which brings together groups and individuals worldwide, with the aim to improve prenatal detection of central nervous system anomalies and the appropriate referral of pregnancies with suspected fetal anomalies. In addition, this document provides further guidance for healthcare practitioners with the goal of standardizing the description of ultrasonographic abnormal findings.

View Article and Find Full Text PDF

Sotos syndrome is a rare genetic disorder that occurs in less than 1 in 10,000 births. It is characterized by rapid growth during childhood (tall stature and unusually large head), typical facial dysmorphic features, neurodevelopmental delays of both mental and movement abilities, and learning disabilities. Prenatal diagnosis of Sotos syndrome is infrequent and sonographic findings are not well characterized as the condition is generally detected during childhood.

View Article and Find Full Text PDF

Objective: To study the early second trimester development of brain hemispheres, lateral ventricles, choroid plexus, and ganglionic eminence/basal ganglia complex (GEBG).

Methods: A retrospective analysis of TVUS 3D volumes of 14-18 gestational weeks (GW) fetuses. Hemispheres were analyzed for wall thickness, choroid plexus extension, GEBG height and length, lamination pattern (intermediate zone and the subplate border, IZ-SP), ventricle height, width, and angle.

View Article and Find Full Text PDF
Article Synopsis
  • A Jewish couple with mixed origins sought genetic counseling after ending a pregnancy due to severe brain abnormalities detected at 18 weeks.
  • Genetic testing identified a variant in the SMARCC1 gene, which is linked to neurodevelopment issues and previously unrecognized associations with congenital hydrocephalus.
  • After presenting their case, the status of the SMARCC1 gene was updated to a susceptibility gene for hydrocephalus, allowing the couple to better understand their genetic risk and make informed decisions about future pregnancies.
View Article and Find Full Text PDF

Introduction: The objective of this study was to investigate myocardial deformation of left (LV) and right ventricle (RV) using 2-dimensional speckle-tracking echocardiography (2D-STE) in fetuses with and without congenital cytomegalovirus (CMV) infection.

Methods: This was a prospective single-center study. Vertical transmission was defined by a positive CMV polymerase chain reaction (PCR) test on the amniotic fluid or on the neonate's urine.

View Article and Find Full Text PDF

Objectives: Fat-water MRI can be used to quantify tissues' lipid content. We aimed to quantify fetal third trimester normal whole-body subcutaneous lipid deposition and explore differences between appropriate for gestational age (AGA), fetal growth restriction (FGR), and small for gestational age fetuses (SGAs).

Methods: We prospectively recruited women with FGR and SGA-complicated pregnancies and retrospectively recruited the AGA cohort (sonographic estimated fetal weight [EFW] ≥ 10th centile).

View Article and Find Full Text PDF

Objective: To demonstrate the potential utility of dedicated neurosonography for the diagnosis of fetal brain involvement in tuberous sclerosis complex.

Methods: This was a multicenter retrospective study of fetuses at high risk for tuberous sclerosis complex. Dedicated neurosonographic, fetal magnetic resonance imaging (MRI) and postnatal reports were reviewed.

View Article and Find Full Text PDF

Objective: To report on a large cohort of fetuses with mild forms of tubulinopathy and to define prenatal ultrasound and magnetic resonance imaging (MRI) features that can facilitate prenatal diagnosis.

Methods: This was a retrospective multicenter study of fetuses diagnosed between January 2007 and February 2022 with a mild tubulinopathy (without lissencephaly or microlissencephaly). We collected and reviewed brain imaging and genetic data, and defined major criteria as findings observed in ≥ 70% of the patients and minor criteria as those observed in ≥ 50% but < 70% of the patients.

View Article and Find Full Text PDF

Objective: To describe neurosonographic findings diagnostic or highly suggestive of the presence of malformations of cortical development involving the cortex that may be identified before 24 weeks of gestation.

Methods: This was a retrospective single-center study of fetuses referred for neurosonography, during 2012-2019, with an abnormal cortical or sulcation pattern diagnosed early in the mid trimester. Stored files were analyzed for demographic data, abnormal brain findings, non-central nervous system abnormalities, final diagnosis and postnatal outcome.

View Article and Find Full Text PDF

Fetal cerebral ventriculomegaly is a relatively common finding, observed during approximately 1% of obstetric ultrasounds. In the second and third trimester, mild (≥10 mm) and severe ventriculomegaly (≥15 mm) are defined according to the measurement of distal lateral ventricles that is included in the routine sonographic examination of central nervous system. A detailed neurosonography and anatomy ultrasound should be performed to detect other associated anomalies in the central nervous system and in other systems, respectively.

View Article and Find Full Text PDF

Fetal Phenotype: A couple of Ashkenazi Jewish descent was referred for an early anatomy scan at 14 + 2 weeks of gestation following a previous pregnancy termination due to posterior encephalocele and enlarged kidneys. The index pregnancy was also positive for several fetal abnormalities, including enlarged kidneys with cystic dysplasia and abnormal cerebellar morphology highly suggestive of Joubert syndrome.

Genetic Diagnostic Test Performed, Result, And Interpretation: Trio exome sequencing revealed compound heterozygosity for variants in the TMEM67 gene: a known pathogenic maternally inherited variant found in trans with a paternal intronic variant of unknown significance.

View Article and Find Full Text PDF

Objectives: To differentiate hypo-/hypertelorism (abnormal) from normal fetuses using automatic biometric measurements and machine learning (ML) classification based on MRI.

Methods: MRI data of normal (n = 244) and abnormal (n = 52) fetuses of 22-40 weeks' gestational age (GA), scanned between March 2008 and June 2020 on 1.5/3T systems with various T-weighted sequences and image resolutions, were included.

View Article and Find Full Text PDF

Variants in CCND2 gene are known to cause syndromic macrocephaly. Recently inverse growth proximal variants were described in five individuals with microcephaly. CCND2 loss of function distal variants can cause fetal microcephaly.

View Article and Find Full Text PDF

We present the prenatal imaging of a fetus with severe eye anomalies diagnosed as carrying a new variant mosaicism on the BCOR gene.

View Article and Find Full Text PDF

Objective: Prenatally detected central nervous system (CNS) anomalies present a diagnostic challenge. In this study, we compared the diagnostic yield of exome sequencing (ES) and chromosomal microarray analysis (CMA) in fetuses with a major CNS anomaly.

Methods: This was a retrospective study of 114 cases referred for genetic evaluation following termination of pregnancy (TOP) due to a major CNS anomaly detected on prenatal ultrasound.

View Article and Find Full Text PDF

Background: deletion/intragenic mutations are the most commonly identified genetic cause of congenital anomalies of the kidney and urinary tract (CAKUT) suggested by fetal ultrasound findings such as: parenchymal hyperechogenicity, overt cystic changes or gross morphological urinary system (UT) abnormalities. The postnatal evolution of these 17q12 deletions encompassing the gene-associated findings has not been assessed in depth.

Methods: In this observational study, we present postnatal follow-up findings in 5 of 6 cases (one pregnancy was terminated on parental request) of fetal-onset cystic/hyperechogenic kidneys eventually diagnosed with 17q12 microdeletion encompassing the gene between 2009 and 2017.

View Article and Find Full Text PDF