Women's attitudes towards disclosure of genetic information in pregnancy with varying levels of penetrance.

Background: Chromosomal-microarray-analysis (CMA) may reveal susceptibility-loci (SL) of varied penetrance for autism-spectrum-disorder (ASD) and other neurodevelopmental conditions. Attitudes of women/parents to disclosure of SL during pregnancy are understudied.

Methods: A multiple-choice questionnaire was distributed to postpartum women.

Shedding light on the Ophel biome: the trans-Tethyan phylogeography of the sulfide shrimp (Peracarida: Thermosbaenacea) in the Levant.

Background: are small peracarid crustaceans inhabiting extreme environments such as subterranean lakes and thermal springs, represented by endemic species found around the ancient Tethys, including the Mediterranean, Arabian Sea, Mid-East Atlantic, and the Caribbean Sea. Two species are known from the Levant: , found along the Dead Sea-Jordan Rift Valley, and , found in the Ayyalon cave complex in the Israeli coastal plain, both belonging to the same species-group based on morphological cladistics. Along the biospeleological research of the Levantine subterranean fauna, three biogeographic hypotheses determining their origins were proposed: (1) Pliocenic transgression, (2) Mid-late Miocenic transgression, and (3) The Ophel Paradigm, according to which these are inhabitants of a chemosynthetic biome as old as the Cambrian.

A Case Report of Familial Mayer-Rokitansky-Küster-Hauser Syndrome as Part of the Phenotypic Spectrum of the 2q37 Deletion.

We performed a genetic investigation into the case of an inherited Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. Our patients were an adolescent and her mother, both with MRKH syndrome. The delivery of a biological offspring was achieved via a gestational carrier.

Homozygous 22q11.2 distal type II microdeletion is associated with syndromic neurodevelopmental delay.

Genomic disorders result from heterozygous copy number variants (CNVs). Homozygous deletions spanning numerous genes are rare, despite the potential contribution of consanguinity to such instances. CNVs in the 22q11.

Biopsy of Canada's family physician shortage.

Family physicians provide comprehensive care for the community and are an integral part of the healthcare system. Canada is experiencing a shortage of family physicians, driven in part by overbearing expectations of family physicians, limited support and resources, antiquated physician compensation, and high clinic operating costs. An additional factor contributing to this scarcity is the shortage of medical school and family medicine residency spots, which have not kept pace with population demand.

Sourcing Herod the Great's calcite-alabaster bathtubs by a multi-analytic approach.

Herod "the Great", king of Judea in the second half of the first century BC, was known for his building projects, wealth, and political power. Two of his personal calcite-alabaster bathtubs, found in the Kypros fortress and the palace of Herodium, are among the very limited archaeological evidence of his private life. It seemed plausible that they were imported from Egypt, the main source of calcite-alabaster in ancient periods.

Postpartum women's attitudes to disclosure of adult-onset conditions in pregnancy.

Background: Advanced prenatal genomic technologies can identify risks for adult-onset (AO) conditions in the fetus, challenging the traditional purpose of prenatal testing. Professional guidelines commonly support disclosure of high-penetrance AO actionable conditions, yet attitudes of women/parents to these findings and factors affecting their attitudes are understudied.

Methods: We explored 941 (77% response rate) postpartum women's attitudes towards receiving prenatal genetic information, and associations of sociodemographic, medical and psychological characteristics with their choices, focusing on AO conditions.

Detection of copy number variants associated with late-onset conditions in ~16 200 pregnancies: parameters for disclosure and pregnancy outcome.

Background: Copy number variants (CNVs) associated with late-onset medical conditions are rare but important secondary findings in chromosomal microarray analysis (CMA) performed during pregnancy. Here, we critically review the cases at two tertiary centres to assess the criteria which guide the disclosure of such findings and develop a disclosure decision tool (DDT) aimed at facilitating disclosure decision. Parental decisions on receiving CNVs associated with risks for late-onset conditions were also recorded.

CRISPR/Cas9-induced gene conversion between paralogs.

Paralogs and pseudogenes are abundant within the human genome, and can mediate non-allelic homologous recombination (NAHR) or gene conversion events. The locus contains three paralogs situated in tandem, and is therefore prone to NAHR-mediated deletions and duplications associated with severe neurological phenotypes. To study this locus further, we aimed to generate biallelic loss-of-function variants in by CRISPR/Cas9 genome editing.

Photoredox Catalyzed Dealkylative Aromatic Halogen Substitution with Tertiary Amines.

A reaction of aromatic halides bearing electron-withdrawing groups with tertiary amines in the presence of an iridium catalyst under blue light irradiation is described. Products of the aromatic substitution of the halide by the dialkylamino fragment are obtained. The interaction of aryl radicals with tertiary amines to generate zwitterionic radical species is believed to be the key factor responsible for the reaction efficiency.

The many etiologies of nonimmune hydrops fetalis diagnosed by exome sequencing.

Objective: To explain the importance of identifying an etiology for the pathological finding of nonimmune hydrops fetalis (NIHF) and to explore the impact of exome sequencing in recurrent NIHF. In addition, we present two cases of pregnancies affected with recurrent NIHF, in which genetic investigation was advantageous.

Methods: Our study aimed to investigate the genetic background, if available, of all fetuses with NIHF referred to our tertiary medical center from January 2013 to August 2020.

Universal chromosomal microarray analysis reveals high proportion of copy-number variants in low-risk pregnancies.

Objectives: To evaluate the yield and utility of the routine use of chromosomal microarray analysis (CMA) for prenatal genetic diagnosis in a large cohort of pregnancies with normal ultrasound (US) at the time of genetic testing, compared with pregnancies with abnormal US findings.

Methods: We reviewed all prenatal CMA results in our center between November 2013 and December 2018. The prevalence of different CMA results in pregnancies with normal US at the time of genetic testing ('low-risk pregnancies'), was compared with that in pregnancies with abnormal US findings ('high-risk pregnancies').

Whole-genome sequencing reveals complex chromosome rearrangement disrupting NIPBL in infant with Cornelia de Lange syndrome.

Clinical laboratory diagnostic evaluation of the genomes of children with suspected genetic disorders, including chromosomal microarray and exome sequencing, cannot detect copy number neutral genomic rearrangements such as inversions, balanced translocations, and complex chromosomal rearrangements (CCRs). We describe an infant with a clinical diagnosis of Cornelia de Lange syndrome (CdLS) in whom chromosome analysis revealed a de novo complex balanced translocation, 46,XY,t(5;7;6)(q11.2;q32;q13)dn.

Information Women Choose to Receive About Prenatal Chromosomal Microarray Analysis.

Objective: To examine the choices of women with both high-risk and low-risk pregnancies who are undergoing prenatal chromosomal microarray analysis in a clinical setting regarding three challenging types of findings: variants of uncertain clinical significance, susceptibility loci for neurodevelopmental disorders, and copy number variants associated with risks for adult-onset conditions. We assessed whether women's choices were associated with indications for testing or with one-on-one pretest genetic counseling.

Methods: In this cross-sectional study, medical records of women who underwent invasive prenatal chromosomal microarray analysis testing (N=1,070) at Hadassah Medical Center between June 2017 and February 2018 were examined for testing indications, choices regarding chromosomal microarray analysis findings, and type of pretest genetic counseling.

Karst terrain in the western upper Galilee, Israel: Speleogenesis, hydrogeology and human preference of Manot Cave.

A karst survey of the western upper Galilee in Israel shows that karst has been a dominant geomorphic factor throughout the Cenozoic. We discuss the geomorphic character of Manot Cave on the background of other karst features of the region, in order to decipher the preferences of the humans who favored this cave over others. Tens of caves distributed over the study area demonstrate that phreatic and hypogene isolated voids and conduit segments are more abundant than vadose shafts, sinking stream caves and spring caves, although all these types are present.

The last glacial cycle of the southern Levant: Paleoenvironment and chronology of modern humans.

The spectrum of glacial-interglacial environmental shifts in the southern Levant Mediterranean zone is evaluated based upon carbon isotopic records of speleothems from several caves, faunal records of Middle Paleolithic and Upper Paleolithic layers in caves, together with additional evidence from the base levels of the region. The studied evidence suggests that food resources were commonly abundant, but some water scarcity and increase in summer rains occurred during MIS 5e, when soils and C vegetation were eliminated, causing soil erosion. This was followed by penetration of summer rainfall and lightning storms from the south, and associated C vegetation and fires.

Is fetal isolated double renal collecting system an indication for chromosomal microarray?

Duplication of the renal collecting system is one of the most common variants of urinary tract anatomy. The objective of our study was to examine the risk for chromosomal aberrations in this isolated prenatal sonographic finding. Data from all chromosomal microarray analyses (CMA) reported to the Ministry of Health between January 2013 and September 2017 were retrospectively obtained from a computerized database.

Single-nucleotide polymorphism-based chromosomal microarray analysis provides clues and insights into disease mechanisms.

Objective: Chromosomal microarray analysis (CMA) is the modality of choice for prenatal diagnosis in pregnancy with fetal malformation, as it has a high diagnostic yield for microdeletion/duplication syndromes. The aim of this study was to demonstrate the additional utility of single-nucleotide polymorphism (SNP)-based CMA in diagnosing monogenic diseases, imprinting disorders and uniparental disomy (UPD).

Methods: CMA was performed using Affymetrix CytoScan array, for all indications in 6995 pregnancies, at a tertiary referral hospital from November 2013 to June 2018.