Ellen Roets, Kim Beernaert, Kenneth Chambaere, Luc Deliens, Kim van Berkel, Luc DeCatte, Sophie Vanhaesebrouck, Kristien Roelens, Laure Dombrecht
OBJECTIVE: Congenital malformations are frequently diagnosed prenatally, even at viable stage. No adequate registration of incidence and characteristics of late termination of pregnancy (TOP) or abortion for medical reasons in Flanders exists. METHODS: Nationwide mortality follow-back survey, sent to physicians signing death certificates of all stillbirths from 22 weeks gestation onward (September 2016 - December 20217) in Flanders, Belgium. Questions measured whether late TOP preceded stillbirth, and which clinical and sociodemographic characteristics were indicated...
April 19, 2023: Prenatal Diagnosis
Maja Dolanc Merc, Borut Peterlin, Luca Lovrecic
An unexplained stillbirth is defined as stillbirth with no known cause after exclusion of common causes, including obstetric complications, infections, placental insufficiency or abruption, umbilical cord complications, and congenital abnormalities with or without known genetic cause. More than 60 % of stillbirth cases remain unexplained. The aim of this systematic review was to investigate the known genetic causes for unexplained stillbirth cases and to evaluate the current position and future directions for the use of genetic and genomic testing in expanding the knowledge in this field...
April 18, 2023: Prenatal Diagnosis
Veronica Giorgione, Karina Krajden Haratz, Shlomi Constantini, Roee Birnbaum, Gustavo Malinger
No abstract text is available yet for this article.
April 16, 2023: Prenatal Diagnosis
Corinna Simonini, Brigitte Strizek, Annika Strömer, Ulrich Gembruch, Annegret Geipel
OBJECTIVE: Evaluation of course and outcome of pregnancies with prenatally diagnosed fetal urinoma in a single center over a 20-year period. METHODS: Retrospective study including all prenatally suspected or diagnosed fetal urinomas. Cases were analyzed by ultrasound findings during pregnancy, comparing urinomas caused by lower urinary tract obstruction (LUTO) and ureteropelvic or ureterovesical junction obstruction (UPJO/UVJO). Course of pregnancy and outcomes were compared according to the underlying etiology...
April 14, 2023: Prenatal Diagnosis
Sophie Adams, Hannah Llorin, Lori J Dobson, Courtney Studwell, Louise Wilkins-Haug, Stephanie Guseh, Kathryn J Gray
OBJECTIVE: To evaluate the utility of postnatal genetic testing on umbilical cord blood (CB) for prenatally identified high-probability fetuses. METHOD: CB for genetic testing was offered to individuals who met one of the following criteria: (i) fetal anomaly, (ii) positive non-invasive prenatal screening by cfDNA or biochemical analysis, or (iii) family history. Individuals with diagnostic testing, but not microarray, were also included when recommended by society guidelines...
April 10, 2023: Prenatal Diagnosis
Sophie Adams, Hannah Llorin, Olivia Maher, Meghan Dean, Lori J Dobson, Sam Gbur, Judith Foster, Sarah McElhinney, Chloe Evans, Hannah Kelly, Louise Wilkins-Haug, Stephanie Guseh, Kathryn J Gray
PURPOSE: To determine the utility of single gene non-invasive prenatal screening (NIPS-SGD) in a high-risk reproductive genetics clinic. METHODS: A clinical pilot for NIPS-SGD was conducted from March 2020 to November 2021. A NIPS-SGD panel assessing pathogenic variants in 30 genes was offered to pregnant individuals for the following indications: (1) advanced sperm age ≥40 years, (2) nuchal translucency (NT) ≥ 3.5 mm, (3) fetal anomaly, or (4) family history of a condition covered by the panel...
April 5, 2023: Prenatal Diagnosis
Cara Buskmiller, Jessian L Munoz, Magdalena Sanz Cortes, Roopali V Donepudi, Michael A Belfort, Ahmed A Nassr
Selective fetal growth restriction (sFGR) complicates 10%-26% of monochorionic twins. Treatment options include cord coagulation, expectant management, and fetoscopic laser photocoagulation. This review compared laser to expectant management for situations when cord coagulation is not an option. The MEDLINE, EMBASE, and Cochrane databases were queried for studies that compared laser to expectant management for sFGR. GRADE was used to assess quality prior to meta-analysis. A random-effects model was used to generate relative risks...
March 29, 2023: Prenatal Diagnosis
Citra N Z Mattar, Jerry K Y Chan, Mahesh Choolani
Proof-of-principle disease models have demonstrated the feasibility of an intrauterine gene modification therapy (in utero gene therapy (IUGT)) approach to hereditary diseases as diverse as coagulation disorders, haemoglobinopathies, neurogenetic disorders, congenital metabolic, and pulmonary diseases. Gene addition, which requires the delivery of an integrating or episomal transgene to the target cell nucleus to be transcribed, and gene editing, where the mutation is corrected within the gene of origin, have both been used successfully to increase normal protein production in a bid to reverse or arrest pathology in utero...
March 25, 2023: Prenatal Diagnosis
Deepti Saxena, Somya Srivastava, Rajesh K Maurya, Amita Moirangthem, Kausik Mandal, Shubha Phadke
OBJECTIVE: Genetic diseases are an important cause of neonatal and childhood mortality. For couples with a history of demise of previous children, screening for carrier status can be done by exome sequencing (ES) of the parents. Our aim was to describe the clinical utility of "targeted parental ES" in such couples and to assess the utility of reanalysis of parental ES data. METHOD: We analyzed previous records, including ES reports, of 52 families with demise of previous offspring with a suspected genetic disorder...
March 25, 2023: Prenatal Diagnosis
Daniella Rogerson, Anna Alkelai, Jessica Giordano, Madhulatha Pantrangi, Meng-Chang Hsiao, Chia-Ling Nhan-Chang, Joshua E Motelow, Vimla Aggarwal, David Goldstein, Ron Wapner, Carrie J Shawber
OBJECTIVE: Congenital lymphatic anomalies (LAs) arise due to defects in lymphatic development and often present in utero as pleural effusion, chylothorax, nuchal and soft tissue edema, ascites, or hydrops. Many LAs are caused by single nucleotide variants which are not detected on routine prenatal testing. METHODS: Demographic data were compared between two sub-cohorts, clinically significant fetal edema (CSFE) and isolated fetal edema (IFE). A targeted variant analysis of LA genes was performed using American College of Medical Genetics criteria on whole exome sequencing (WES) data generated for 71 fetal edema cases who remained undiagnosed after standard workup...
March 23, 2023: Prenatal Diagnosis
Eran Ashwal, Susan Blaser, Ashley Leckie, Dilkash Kajal, Pradeep Krishnan, Karen Chong, Maian Roifman, Ants Toi, David Chitayat
OBJECTIVE: To evaluate the short- and long-term outcome of fetuses with evidence of extension of the choroid plexus into the frontal horns. METHODS: This is a retrospective cohort study of fetuses diagnosed with isolated choroid plexi extending into the frontal horns. Fetuses with major central nervous system anomalies were excluded. Ultrasound and fetal/postnatal magnetic resonance imaging (MRI) were evaluated. Postnatal outcomes, including developmental assessment, were obtained...
March 22, 2023: Prenatal Diagnosis
Jill K Tjon, Melinda M E H Witbreuk, Peter A A Struijs, Bloeme J van der Knoop, Ingeborg H Linskens, Johanna I de Vries
OBJECTIVE: Children and adults with talipes equinovarus (TEV) have smaller calves and shorter feet compared to non-affected controls. Do these changes have a prenatal onset? METHODS: A prospective cohort study (January 2020-July 2021) was conducted with serial ultrasonographic measurements at 20 and 28 weeks gestation and measurements directly and 6 weeks after birth. Calf circumference and width, foot length and length of humerus, ulna, radius, femur, tibia and fibula were measured in TEV and were compared to a control population...
March 16, 2023: Prenatal Diagnosis
Nan Okun, R Douglas Wilson
N/A This article is protected by copyright. All rights reserved.
March 15, 2023: Prenatal Diagnosis
Kara J Shannon, Sarah VanLoh, Jimmy Espinoza, Magdalena Sanz-Cortes, Roopali Donepudi, Alireza A Shamshirsaz, Chester J Koh, David R Roth, Michael C Braun, Joseph Angelo, Michael A Belfort, Ahmed Nassr
OBJECTIVE: We evaluate survival of fetuses with severe Lower Urinary Tract Obstruction (LUTO) based on bladder morphology. We hypothesize that fetuses with a "floppy" appearing bladder on initial prenatal ultrasound will have worse infant outcomes than fetuses with full/rounded bladders. METHOD: We retrospectively reviewed all cases of LUTO evaluated in our fetal center between January 2013 and December 2021. Ultrasonographic assessment, renal biochemistry, and bladder refilling contributed to a "favorable" or "unfavorable" evaluation...
March 15, 2023: Prenatal Diagnosis
Cécile Courdier, John Boudjarane, Valérie Malan, Christine Muti, Brian Sperelakis-Beedham, Sylvie Odent, Sylvie Jaillard, Chloé Quelin, Cédric Le Caignec, Olivier Patat, Charlotte Dubucs, Sophie Julia, Caroline Schluth-Bolard, Carole Goumy, Sylvia Redon, Jean-Baptiste Gaillard, Minh Tuan Huynh, Céline Dupont, Anne-Claude Tabet, Guillaume Cogan, François Vialard, Rodolphe Dard, Guillaume Jedraszak, Florence Jobic, Mathilde Lefebvre, Geneviève Quenum, Saori Inai, Mélanie Rama, Fanny Sauvestre, Frédéric Coatleven, Julie Thomas, Caroline Rooryck
OBJECTIVE: We aimed to gather fetal cases carrying a 7q11.23 copy number variation (CNV) and collect precise clinical data to broaden knowledge of antenatal features in these syndromes. METHODS: We retrospectively recruited unrelated cases with 7q11.23 deletion, known as Williams-Beuren syndrome (WBS), or 7q11.23 duplication who had prenatal ultrasound findings. We collected laboratory and clinical data, fetal ultrasound, cardiac ultrasound and fetal autopsy reports from 18 prenatal diagnostic centers throughout France...
March 13, 2023: Prenatal Diagnosis
Montse Pauta, Raigam J Martinez-Portilla, Eva Meler, Juan Otaño, Antoni Borrell
The aim of this study was to determine the diagnostic yield of exome sequencing (ES) above that of chromosomal microarray analysis (CMA) or karyotyping in fetuses with isolated fetal growth restriction (FGR). This was a systematic review conducted in accordance with Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. Selected studies included those with (a) only fetuses with FGR in the absence of fetal structural anomalies and (b) negative CMA or karyotyping results. Only positive variants classified as likely pathogenic or pathogenic determined as causative of the fetal phenotype were considered...
March 4, 2023: Prenatal Diagnosis
Bo B Bet, Maartje C Snoep, Elisabeth van Leeuwen, Ingeborg H Linskens, Monique C Haak, Lieke Rozendaal, Ingmar Knobbe, Joost van Schuppen, Carlijn E L Hoekstra, David R Koolbergen, Sally-Ann Clur, Eva Pajkrt
OBJECTIVES: To determine the proportion of children that require surgery in the first year of life and thereafter in order to improve the counseling of parents with a fetus with a right aortic arch (RAA). METHODS: Fetuses diagnosed with isolated RAA, defined as the absence of intra- or extracardiac anomalies, between 2007 and 2021 were extracted from the prospective registry PRECOR. RESULTS: In total, 110 fetuses were included, 92 with a prenatal diagnosis of RAA and 18 with double aortic arch (DAA)...
May 2023: Prenatal Diagnosis
Brigitte H W Faas, Dineke Westra, Sonja A de Munnik, Maartje van Rij, Carlo Marcelis, Sara Joosten, Ingrid Krapels, Vivian Vernimmen, Malou Heijligers, Marjolein H Willemsen, Nicole de Leeuw, Tuula Rinne, Rolph Pfundt, Sanne P Smeekens, Sander P A Stegmann, Merryn Macville, Esther Sikkel, Audrey Coumans, Lia Wijnberger, Irma Derks, Josefa van Lent-Albrechts, Tom Hofste, Raoul Timmermans, Janneke van den End, Servi J C Stevens, Ilse Feenstra
OBJECTIVE: We performed a 1-year evaluation of a novel strategy of simultaneously analyzing single nucleotide variants (SNVs), copy number variants (CNVs) and copy-number-neutral Absence-of-Heterozygosity from Whole Exome Sequencing (WES) data for prenatal diagnosis of fetuses with ultrasound (US) anomalies and a non-causative QF-PCR result. METHODS: After invasive diagnostics, whole exome parent-offspring trio-sequencing with exome-wide CNV analysis was performed in pregnancies with fetal US anomalies and a non-causative QF-PCR result (WES-CNV)...
April 2023: Prenatal Diagnosis
Karuna R M van der Meij, Lidewij Henneman, Erik A Sistermans
No abstract text is available yet for this article.
April 2023: Prenatal Diagnosis
Tasuku Mariya, Yui Shichiri, Takeshi Sugimoto, Rie Kawamura, Syunsuke Miyai, Hidehito Inagaki, Eiji Sugihara, Keiko Ikeda, Tsuyoshi Baba, Aki Ishikawa, Michiko Ammae, Yoshiharu Nakaoka, Tsuyoshi Saito, Akihiro Sakurai, Hiroki Kurahashi
OBJECTIVE: Xq chromosome duplication with complex rearrangements is generally acknowledged to be associated with neurodevelopmental disorders, such as Pelizaeus-Merzbacher disease (PMD) and MECP2 duplication syndrome. For couples who required a PGT-M (pre-implantation genetic testing for monogenic disease) for these disorders, junction-specific PCR is useful to directly detect pathogenic variants. Therefore, pre-clinical workup for PGT-M requires the identification of the junction of duplicated segments in PMD and MECP2 duplication syndrome, which is generally difficult...
March 2023: Prenatal Diagnosis
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