journal
https://read.qxmd.com/read/38163266/raine-syndrome-prenatally-identified-severe-craniofacial-phenotype-with-multisuture-synostosis-and-brain-abnormalities-associated-with-variants-in-fam20c
#41
Courtney P Verscaj, Carly Smith, Margaret Homeyer, Dena R Matalon
Raine syndrome (MIM 259775) is a rare autosomal recessive disorder, first described by Raine et al. in 1989, with an estimated prevalence of <1/1,000,000. This is due to pathogenic variants in FAM20C characterized by osteosclerosis, typical craniofacial features, and brain calcifications. Here, we report a novel variant in FAM20C, describe a uniquely severe craniofacial and CNS phenotype of Raine syndrome, and correlate it with prenatal findings. Fetal phenotyping was based on ultrasound and MRI. Solo exome sequencing was performed from DNA extracted from postmortem skin biopsy...
January 1, 2024: Prenatal Diagnosis
https://read.qxmd.com/read/38161311/prevalence-of-corpus-callosum-pathology-in-an-unselected-population-should-assessment-of-the-corpus-callosum-be-included-in-the-routine-20%C3%A2-weeks-scan
#42
JOURNAL ARTICLE
Mª Angeles Rodríguez, Mónica Echevarría, Laura Perdomo, Marta Gómez-Chiari, Sandra García, Pilar Prats, Bernat Serra, Gerard Albaiges
OBJECTIVES: To determine the prevalence of abnormalities of the corpus callosum (AbnCC) in a non-selected population, to propose a systematic screening protocol for AbnCC in all populations through direct assessment, and to describe the follow-up and prognosis of all AbnCC cases diagnosed in our clinical setting. METHODS: This was a retrospective review of the prevalence of AbnCC over 11 years. We included a sagittal assessment of the corpus callosum (CC) in the second-trimester scan...
January 1, 2024: Prenatal Diagnosis
https://read.qxmd.com/read/38161285/novel-compound-heterozygous-variants-in-emc1-overlapping-phenotypes-of-left-ventricular-noncompaction-and-long-qt-syndrome-warranting-in-depth-exploration
#43
Xiaohui Dai, Yu Wang, Hanmin Liu, Jiao Chen
A couple was referred for prenatal counseling at the gestational age of 35 weeks of a male fetus (II-2) with sinus bradycardia and suspected first degree atrioventricular block with left ventricular noncompaction (LVNC). A previous pregnancy for the couple of a female fetus (II-1) was diagnosed prenatally as sinus bradycardia at the gestational age of 30 weeks. Both fetuses were confirmed to have long QT syndrome (LQTS) with LVNC after birth, and died of heart failure during infancy. The genetic cause of the combined cardiovascular disorders was investigated by trio whole-exome sequencing and Sanger sequencing on DNA extracted from parental blood samples and umbilical cord serum of the proband...
December 31, 2023: Prenatal Diagnosis
https://read.qxmd.com/read/38161284/micro-ct-and-high-field-mri-for-studying-very-early-post-mortem-human-fetal-anatomy-at-8%C3%A2-weeks-of-gestation
#44
JOURNAL ARTICLE
Audrey Lamouroux, Maïda Cardoso, Célia Bottero, Mathieu Gallo, Martha Duraes, Jennifer Salerno, Martin Bertrand, Valérie Rigau, Florent Fuchs, Eve Mousty, David Genevieve, Gérard Subsol, Christophe Goze-Bac, Guillaume Captier
OBJECTIVE: This study involved very early post-mortem (PM) examination of human fetal anatomy at 8 weeks of gestation (WG) using whole-body multimodal micro-imaging: micro-CT and high-field MRI (HF-MRI). We discuss the potential place of this imaging in early first-trimester virtual autopsy. METHODS: We performed micro-CT after different contrast-bath protocols including diffusible iodine-based contrast-enhanced (dice) and HF-MRI with a 9.4 T machine with qualitative and quantitative evaluation and obtained histological sections...
December 31, 2023: Prenatal Diagnosis
https://read.qxmd.com/read/38159268/successful-antenatal-treatment-of-maged2-related-bartter-syndrome-and-review-of-treatment-options-and-efficacy
#45
REVIEW
Caroline J Walsh, Kestutis Micke, Hannah Elfman, Margret Bock, Teresa Harper, Michael Zaretsky, Henry L Galan, Nicholas Behrendt, Manesha Putra
A new form of transient antenatal Bartter syndrome (aBS) was recently identified that is associated with the X-linked MAGED2 variant. Case reports demonstrate that this variant leads to severe polyhydramnios that may result in preterm birth or pregnancy loss. There is limited but promising evidence that amnioreductions may improve fetal outcomes in this rare condition. We report a woman with two affected pregnancies. In the first pregnancy, the patient was diagnosed with mild-to-moderate polyhydramnios in the second trimester that ultimately resulted in preterm labor and delivery at 25 weeks with fetal demise...
December 30, 2023: Prenatal Diagnosis
https://read.qxmd.com/read/38158591/trust-in-prenatal-exome-sequencing-for-expectant-families-facing-unexplained-fetal-anomalies
#46
JOURNAL ARTICLE
Harriet T Rothschild, Billie R Lianoglou, Nuriye N Sahin Hodoglugil, Katie Tick, Julia E H Brown, Teresa N Sparks
OBJECTIVE: Despite exome sequencing (ES) becoming increasingly incorporated into the prenatal setting, few studies have elucidated motivations for and trust in ES and genomic research among a diverse cohort of patients and their partners. METHODS: This is a qualitative study that involved semi-structured interviews with pregnant or recently pregnant individuals and their partners, interviewed separately, in the setting of ES performed through research for a fetal structural anomaly...
December 29, 2023: Prenatal Diagnosis
https://read.qxmd.com/read/38152001/prenatal-characterization-of-novel-neurosonographic-findings-in-a-fetus-with-sotos-syndrome
#47
Eran Bornstein, Sarah Reiss, Gustavo Malinger
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. We present a case in which routine third trimester ultrasound detected intracranial findings including ventriculomegaly, periventricular pseudocysts, and increased periventricular echogenicity...
December 27, 2023: Prenatal Diagnosis
https://read.qxmd.com/read/38148030/diffuse-interstitial-lung-disease-in-a-male-fetus-with-periventricular-nodular-heterotopia-and-filamin-a-mosaic-variant
#48
JOURNAL ARTICLE
Beatrice Desnous, Guillaume Carles, Florence Riccardi, Nathalie Stremler, Melissa Baravalle, Fedouah El-Louali, Benoit Testud, Mathieu Milh
BACKGROUND: Most periventricular nodular heterotopias (PNHs) are associated with a mutation in the filamin A (FLNA) gene in Xq28. This condition is associated with cardiovascular malformations, connective tissue abnormalities, epilepsy, and intellectual deficiency of varying severity. MATERIALS AND METHODS: We report a new FLNA gene mutation in a male patient associated with PNH and diffuse interstitial lung disease. RESULTS: A 23-year-old woman was referred at 31 gestational weeks to evaluate a suspected mega cisterna magna and ventricular septal defect with atrioventricular valve alignment in a male fetus...
December 26, 2023: Prenatal Diagnosis
https://read.qxmd.com/read/38148006/biallelic-truncating-ttn-variants-in-m-band-encoding-exons-cause-a-fetal-lethal-titinopathy
#49
Ming-Wei Li, Fan Li, Zhen-Xing Cheng, Jin Cheng, Quan Wu, Zhi-Xin Wang, Fei Wang, Ping Zhou
To report two novel TTN variants associated with fetal recessive titinopathy, thereby broadening the range of TTN variants that can lead to titinopathy. Clinical information on the fetus and parents was gathered, and genomic DNAs were extracted from the fetal tissue and family members' peripheral blood samples. Exome sequencing on fetal DNA was performed and following bioinformatics analysis, the suspected pathogenic variants were confirmed through Sanger sequencing. Prenatal ultrasound performed at 29 weeks of gestation revealed hydrops fetalis, decreased fetal movements, multiple joint contractures and polyhydramnios...
December 26, 2023: Prenatal Diagnosis
https://read.qxmd.com/read/38141050/limited-additional-value-of-karyotyping-cultured-amniotic-fluid-cell-colonies-in-addition-to-microarray-on-uncultured-cells-for-confirmation-of-abnormal-non-invasive-prenatal-testing-results
#50
JOURNAL ARTICLE
Stephany H Donze, Malgorzata I Srebniak, Karin E M Diderich, Myrthe van den Born, Robert-Jan Galjaard, Lutgarde C P Govaerts, Vyne van der Schoot, Maarten F C M Knapen, Marieke Joosten, Diane Van Opstal
OBJECTIVES: Non-invasive prenatal testing (NIPT) allows the detection of placental chromosome aberrations. To verify whether the fetus also has the chromosome aberration, diagnostic follow-up testing is required. The aim of this retrospective study was to assess the added value of analyzing amniotic fluid (AF) cell cultures in addition to uncultured AF cells for the detection of fetal mosaicism. METHOD: NIPT was performed as part of the Dutch TRIDENT study. Cytogenetic studies in uncultured AF were performed using single nucleotide polymorphism (SNP)-array...
December 23, 2023: Prenatal Diagnosis
https://read.qxmd.com/read/38141042/renal-and-extra-renal-phenotypes-in-a-fetus-with-a-de-novo-pathogenic-variant-in-the-hnf1b-gene
#51
Wing Ting Tse, Ye Cao, Pensi Ping Hei Lam, Kwok Ming Law, Kwong Wai Choy, Yuen Ha Ting
We report a fetus with prenatal ultrasound at 21 gestational weeks showing left cystic renal dysplasia with subcapsular cysts and echogenic parenchyma, right echogenic kidney with absent corticomedullary differentiation, and left congenital diaphragmatic hernia (CDH) with bowel herniation, with intestinal atresia (IA) found on postmortem examination. Whole genome sequencing of fetal blood DNA revealed a heterozygous pathogenic variant c.344 + 2 T>G in the HNF1B gene (NM_000458). Sanger sequencing of the parental samples suggested that it arose de novo in the fetus...
December 23, 2023: Prenatal Diagnosis
https://read.qxmd.com/read/38126921/functional-assessment-of-brain-development-in-fetuses-that-subsequently-deliver-very-preterm-an-mri-pilot-study
#52
JOURNAL ARTICLE
Lisa Story, Alena Uus, Megan Hall, Kelly Payette, Spyros Bakalis, Tomoki Arichi, Andrew Shennan, Mary Rutherford, Jana Hutter
OBJECTIVES: To evaluate changes occurring in the fetal brain prior to very preterm delivery using MRI T2* relaxometry, an indirect assessment of tissue perfusion. METHOD: Fetuses that subsequently delivered spontaneously <32 weeks gestation and a control cohort were identified from pre-existing datasets. Participants had undergone a 3T MRI assessment including T2* relaxometry of the fetal brain using a 2D multi-slice gradient echo single shot echo planar imaging sequence...
December 21, 2023: Prenatal Diagnosis
https://read.qxmd.com/read/38180355/the-genetic-etiologies-of-bilateral-renal-agenesis
#53
REVIEW
Gregory W Kirschen, Karin Blakemore, Huda B Al-Kouatly, Gila Fridkis, Ahmet Baschat, John Gearhart, Angie C Jelin
OBJECTIVE: The goal of this study was to review and analyze the medical literature for cases of prenatal and/or postnatally diagnosed bilateral renal agenesis (BRA) and create a comprehensive summary of the genetic etiologies known to be associated with this condition. METHODS: A literature search was conducted as a scoping review employing Online Mendeliain Inheritance in Man, PubMed, and Cochrane to identify cases of BRA with known underlying genetic (chromosomal vs...
February 2024: Prenatal Diagnosis
https://read.qxmd.com/read/38133549/outcomes-of-fetal-lower-urinary-tract-obstruction-based-on%C3%A2-timing-of-oligohydramnios-onset
#54
JOURNAL ARTICLE
Jessian L Munoz, Sarah Tounsi, Cara Buskmiller, Magdalena Sanz Cortes, Roopali V Donepudi, Michael A Belfort, Ahmed A Nassr
OBJECTIVE: Fetal Lower Urinary Tract Obstruction (LUTO) is associated with oligohydramnios and significant fetal morbidity, resulting in poor lung development and perinatal death. However, oligohydramnios may develop at different gestational periods, and the impact of timing on fetal outcomes remains unknown. Our objective was to characterize the impact onset of oligohydramnios had on prenatal outcomes. METHODS: This study is a retrospective cohort study of all patients with a prenatal diagnosis of LUTO at our tertiary referral center from 2014 to 2023...
February 2024: Prenatal Diagnosis
https://read.qxmd.com/read/38056891/when-should-we-offer-antenatal-sequencing-for-urinary-tract-malformations-a-systematic-review-cohort-study-and-meta-analysis
#55
JOURNAL ARTICLE
Sarah Sonner, Kelly Reilly, Adrian S Woolf, Natalie Chandler, Mark D Kilby, Eamonn R Maher, Cheryl Flanagan, Amy Jayne McKnight, Fionnuala Mone
OBJECTIVE: Determine the incremental yield of prenatal exome sequencing (PES) over chromosome microarray (CMA) and/or karyotype for urinary tract malformations (UTMs). METHOD: A prospective cohort study encompassing data from the English Genomic Medicine Service North Thames Laboratory Hub for fetuses with bilateral echogenic kidneys (BEKs) was combined with data from a systematic review. MEDLINE, EMBASE, Web of Science, MedRxiv and GreyLit were searched from 01/2010-02/2023 for studies reporting on the yield of PES over CMA or karyotype in fetuses with UTMs...
February 2024: Prenatal Diagnosis
https://read.qxmd.com/read/38272829/abstracts-of-the-ispd-27th-international-conference-on-prenatal-diagnosis-and-therapy-18-21-june-2023
#56
JOURNAL ARTICLE
(no author information available yet)
No abstract text is available yet for this article.
January 2024: Prenatal Diagnosis
https://read.qxmd.com/read/38172082/in-utero-evaluation-of-the-fetal-umbilical-portal-venous-system-among-fetuses-with-persistent-right-umbilical-vein-two-and-three-dimensional-ultrasonographic-study
#57
JOURNAL ARTICLE
Abeer Massarwa, Tal Weissbach, Efrat Hadi, Vered YuLzari, Baruch Messing, Laura Adamo, Tal Elkan-Miller, Reuven Achiron, Zvi Kivilevich, Yossi Bart, Boaz Weisz, Rakefet Yoeli-Ullman, Shali Mazaki, Eran Kassif
OBJECTIVE: The aim of this study was to describe the anatomy of the portal system in fetuses with persistent right umbilical vein (PRUV). METHODS: Prospective observational study of fetuses diagnosed with PRUV. All patients underwent a comprehensive portal system anatomy scan supplemented by two-dimensional (2D) and three-dimensional (3D) color doppler modalities. RESULTS: 29 fetuses with PRUV were studied. We perceived an identical anatomical pattern in 28 fetuses...
January 2024: Prenatal Diagnosis
https://read.qxmd.com/read/38117025/learning-curve-for-fetal-postmortem-ultrasound
#58
JOURNAL ARTICLE
Patricia Ibarra Vilar, Laura De Luca, Dominique A Badr, Teresa Cos Sanchez, Andrew Carlin, Sophie Lecomte, Jacques C Jani, Xin Kang
OBJECTIVE: To determine the learning curve of fetal postmortem ultrasound (PMUS) and evaluate the evolution of its diagnostic performance over the past 8 years. METHODS: PMUS was performed by two fetal medicine specialists and two experts on 100 unselected fetuses of 12-38 weeks of gestation in a prospective, double-blind manner. 21 pre-defined internal structures were analyzed consecutively by the trainee alone and the expert, with a comparison of diagnosis and immediate feedback...
December 20, 2023: Prenatal Diagnosis
https://read.qxmd.com/read/38117007/fetal-urinary-tract-dilation-what-to-tell-the-parents
#59
REVIEW
Katrien Nulens, Armando J Lorenzo, Joana Dos Santos, Katie Ellul, Mandy Rickard
Urinary tract dilation (UTD), which refers to the abnormal dilation of the urinary collection system, is the most common finding on prenatal ultrasound and presents with varying severity, presentation, etiology, and prognosis. Prenatal classification and risk stratification aim to prevent postnatal complications, such as urinary tract infections and further kidney dysfunction. Parents expecting a child with UTD should be counseled by a multidisciplinary team consisting of maternal-fetal medicine specialists, and pediatric urology and nephrology providers...
December 20, 2023: Prenatal Diagnosis
https://read.qxmd.com/read/38112307/remote-hands-on-training-with-a-novel-video-game-simulator-for-teaching-fetoscopic-laser-techniques-for-ablation-of-placental-anastomoses-in-twin-to-twin-syndrome
#60
JOURNAL ARTICLE
Catherine Windrim, Greg Ryan, David Rojas, Daniel Montero, Mary Higgins, Rory Windrim
No abstract text is available yet for this article.
December 19, 2023: Prenatal Diagnosis
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