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Clinical experience of next generation sequencing based expanded carrier screening in high‐risk couples from a tertiary healthcare center in Pakistan Prenat. Diagn. (IF 3.0) Pub Date : 2024-03-16 Fizza Akbar, Salman Kirmani, Muhammad Farrukh Qazi, Najia Minhas Ali, Zohra Hasan Ali, Bushra Afroze
IntroductionCarrier screening for genetic conditions has long been a part of preconception and prenatal care. While the use of expanded carrier screening (ECS) is widely common in HICs (high income countries), the clinical actionability of ECS in LMICs (low middle income countries) with high consanguineous unions is not well‐understood.MethodRetrospective chart review of couples who presented to the
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A capture‐based method of prenatal cell‐free DNA screening for autosomal recessive non‐syndromic hearing loss Prenat. Diagn. (IF 3.0) Pub Date : 2024-03-16 Qian Mu, Ling Bai, Bing Xu, Huawen Du, Zhaoyun Jiang, Shasha Huang, Bo Gao, Qixi Wu, Hanqing Zhao, Pu Dai, Yi Jiang
ObjectiveThis study aimed to develop and validate a prenatal cell‐free DNA (cfDNA) screening method that uses capture‐based enrichment to genotype fetal autosomal recessive disorders. This method was applied in pregnancies at high risk of autosomal recessive non‐syndromic hearing loss (ARNSHL) to assess its accuracy and effectiveness.MethodsThis assay measured the allele counts in both white blood
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Prenatal detection rates for congenital heart disease using abnormal obstetrical screening ultrasound alone as indication for fetal echocardiography Prenat. Diagn. (IF 3.0) Pub Date : 2024-03-16 Sanjay Vepa, Mubarika Alavi, Weilu Wu, Julie Schmittdiel, Lisa J. Herrinton, Kavin Desai
ObjectiveTo determine the live born prenatal detection rate of significant congenital heart disease (CHD) in a large, integrated, multi‐center community‐based health system using a strategy of referral only of patients with significant cardiac abnormalities on obstetrical screening ultrasound for fetal echocardiography. Detection rates were assessed for screening in both radiology and maternal fetal
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Issue Information Prenat. Diagn. (IF 3.0) Pub Date : 2024-03-15
No abstract is available for this article.
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Obstetric imaging practice characteristics associated with prenatal detection of critical congenital heart disease in a rural US region over 20 years Prenat. Diagn. (IF 3.0) Pub Date : 2024-03-09 Kelley C. McLean, Marjorie C. Meyer, Sarah R. Peters, Lia D. Wrenn, Scott B. Yeager, Jonathan N. Flyer
ObjectiveTo identify clinical practice characteristics associated with the frequency of prenatal critical congenital heart disease (CCHD) detection (i.e., the number of liveborn infants with postnatally confirmed CCHD identified on prenatal sonography) over 20 years in a rural setting comprised of 11 primarily low‐volume obstetric hospitals and the single tertiary academic hospital to which they refer
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Caution with noninvasive prenatal screening for single gene disorders: A case report of a COL1A1 variant in osteogenesis imperfecta Prenat. Diagn. (IF 3.0) Pub Date : 2024-03-09 Olivia B. Chafitz, Nicole S. Feigenblum, Andrew S. Haddad, Yaakov E. Abdelhak, Antonia F. Oladipo
Key pointsWhat is already known? Noninvasive prenatal screening (NIPS) for monogenic conditions is now available, and patients commonly pursue this despite normal sonographic findings or the absence of pertinent family history. What does this study add? This case underscores the limitations of NIPS for monogenic conditions in low‐risk populations and the importance of pre‐ and post‐test genetic counseling
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Labyrinthine cor triatriatum sinister in fetal hypoplastic left heart syndrome is associated with poor outcomes Prenat. Diagn. (IF 3.0) Pub Date : 2024-03-06 Amna Qasim, Tam T. Doan, Betul Yilmaz Furtun, Ziyad Binsalamah, Iki Adachi, Shaine A. Morris
A subset of hypoplastic-left-heart-syndrome (HLHS) fetuses have a complex cor-triatriatum sinister that we named “labyrinthine-cor (L-cor)”. We sought to determine the prevalence of L-cor in HLHS fetuses and hypothesized that it is associated with increased mortality.
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Performance of cell-free DNA testing for common fetal trisomies in triplet pregnancies Prenat. Diagn. (IF 3.0) Pub Date : 2024-03-06 Hoda Zakaria, Pascale Kleinfinger, Laurence Lohmann, Jean-Marc Costa, Vassilis Tsatsaris, Laurent J. Salomon, Jean-Marie Jouannic, Jonathan Rosenblatt, Adèle Demain, Alexandra Benachi, Laïla El Khattabi, Alexandre J. Vivanti
In singleton pregnancies, the use of cell-free DNA (cfDNA) analysis as a screening test for common fetal trisomies has spread worldwide though we still lack sufficient data for its use in triplet pregnancies. The objective of this study is to assess the performance of cfDNA testing in detecting fetal aneuploidies in triplet pregnancies as a first-tier test.
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Prenatal diagnosis and in utero treatment of congenital adrenal hyperplasia: An up-to-date comprehensive review Prenat. Diagn. (IF 3.0) Pub Date : 2024-03-06 Oluwateniayo O. Okpaise, Hyunyoung Ahn, Gabriele Tonni, Rodrigo Ruano
Congenital adrenal hyperplasia (CAH) is a term that encompasses a wide range of conditions that affect the adrenals. Diagnosis and treatment before birth are important as irreparable birth defects can be avoided, decreasing the need for surgical intervention later in life, especially regarding genitalia anomalies. Although early implementation of dexamethasone in the prenatal treatment of CAH has been
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Fetal diagnosis and management of pulmonary artery sling: A case series Prenat. Diagn. (IF 3.0) Pub Date : 2024-03-06 Scott Bennett, Lisa K. Hornberger, Deborah Fruitman, Timothy J. Bradley, Gitanjali P. Mansukhani
ObjectivePulmonary artery sling is a rare congenital anomaly accounting for 2% of all patients with vascular anomalies that cause airway obstruction. In the normal heart, the left (LPA) and right (RPA) pulmonary arteries arise in the intrapericardial space. However, in the pulmonary artery sling, the LPA trunk arises in the extrapericardial space from the posterior aspect of the mid RPA and courses
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‘Something that helped the whole picture’: Experiences of parents offered rapid prenatal exome sequencing in routine clinical care in the English National Health Service Prenat. Diagn. (IF 3.0) Pub Date : 2024-03-05 Hannah McInnes‐Dean, Rhiannon Mellis, Morgan Daniel, Holly Walton, Emma L. Baple, Marta Bertoli, Jane Fisher, Katarzyna Gajewska‐Knapik, Muriel Holder‐Espinasse, Caroline Lafarge, Kerry Leeson‐Beevers, Alec McEwan, Pranav Pandya, Michael Parker, Sophie Peet, Lauren Roberts, Srividhya Sankaran, Audrey Smith, Dagmar Tapon, Wing Han Wu, Sarah L. Wynn, Lyn S. Chitty, Melissa Hill, Michelle Peter
ObjectivesIn October 2020, rapid prenatal exome sequencing (pES) was introduced into routine National Health Service (NHS) care in England. This study aimed to explore parent experiences and their information and support needs from the perspective of parents offered pES and of health professionals involved in its delivery.MethodsIn this qualitative study, semi‐structured interviews were conducted with
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Patient experiences with prenatal cell‐free DNA screening in a safety net setting Prenat. Diagn. (IF 3.0) Pub Date : 2024-03-01 Kirsten A. Riggan, Amelia Barwise, Jane Q. Yap, Niamh Condon, Megan A. Allyse
ObjectivesThirty‐five states, including Florida, now cover cell‐free DNA (cfDNA) screening of fetuses for all pregnant patients enrolled in state public insurance programs. We interviewed Black and Hispanic obstetric patients at a safety net clinic in Florida shortly after the state rolled out cfDNA as a first‐tier screening method for publicly insured patients.MethodsBlack and Hispanic patients receiving
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Noninvasive single-cell-based prenatal genetic testing: A proof of concept clinical study Prenat. Diagn. (IF 3.0) Pub Date : 2024-02-27 Michelle Bellair, Elisabete Amaral, Mason Ouren, Cameron Roark, Jaeweon Kim, April O'Connor, Adrianna Soriano, Margaret L. Schindler, Ronald J. Wapner, Joanne L. Stone, Nicola Tavella, Audrey Merriam, Lauren Perley, Amy M. Breman, Arthur L. Beaudet
To clinically assess a cell-based noninvasive prenatal genetic test using sequence-based copy number analysis of single trophoblasts from maternal blood.
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Cover Image Prenat. Diagn. (IF 3.0) Pub Date : 2024-02-22 Kimberly Martin, Mary E. Norton, Cora MacPherson, Zachary Demko, Melissa Egbert, Sina Haeri, Fergal Malone, Ronald J. Wapner, Ashley S. Roman, Asma Khalil, Revital Faro, Rajeevi Madankumar, Noel Strong, Robert Silver, Nidhi Vohra, Jon Hyett, Charlly Kao, Hakon Hakonarson, Bo Jacobson, Pe'er Dar
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The evolving genetic etiology of conotruncal anomalies Prenat. Diagn. (IF 3.0) Pub Date : 2024-02-16 Adalina Sacco, Ronel Talker, Lyndall Sarkies, Tazeen Ashraf, Natalie Jane Chandler, Pranav Pandya, Victoria Jowett, Sara Hillman
To assess the diagnostic yield of genetic testing for antenatally detected conotruncal defects.
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Issue Information Prenat. Diagn. (IF 3.0) Pub Date : 2024-02-16
No abstract is available for this article.
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Postmortem imaging of fetuses at early gestations: A comparison of microfocus computed tomography with postmortem magnetic resonance at 9.4 T and postmortem ultrasound Prenat. Diagn. (IF 3.0) Pub Date : 2024-02-17 Patricia Ibarra Vilar, Jacques C. Jani, Mieke M. Cannie, Susan C. Shelmerdine, Sophie Lecomte, Marleen Verhoye, Ciaran J. Hutchinson, Owen J. Arthurs, Andrew Carlin, Xin Kang
To compare the diagnostic performance of postmortem ultrasound (PMUS), 9.4 T magnetic resonance imaging (MRI) and microfocus computed tomography (micro-CT) for the examination of early gestation fetuses.
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A de novo pathogenic variant in DHX30 gene in a fetus with isolated dysgenesis of the corpus callosum Prenat. Diagn. (IF 3.0) Pub Date : 2024-02-17 Karina Krajden Haratz, Gustavo Malinger, Uri Erlik, Rayna Goldstein, Mordechai Shohat, Roee Birnbaum
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
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Cover Image Prenat. Diagn. (IF 3.0) Pub Date : 2024-02-16 Mandy Rickard, Jin Kyu Kim, Tim Van Mieghem, Shiri Shinar, Ashlene McKay, Joana Dos Santos, Natasha Brownrigg, Daniel T. Keefe, Armando J. Lorenzo, Michael Chua
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Exploring the factors affecting classification and reporting of uncertain prenatal microarray findings, using a “virtual fetus” model-a pilot study Prenat. Diagn. (IF 3.0) Pub Date : 2024-02-14 Rachel Michaelson-Cohen, Liat Sheelo Salzer, Dana Brabbing-Goldstein, Yuval Yaron, Adi Reches, Hagith Yonath, Miriam Regev, Hagit Shani, Gheona Altarescu, Reeval Segel, Rivka Sukenik-Halevy, Hagit Daum, Tamar Harel, Vardiella Meiner, Lina Basel-Salmon, Lena Sagi-Dain, Idit Maya
Significant discrepancy exists between laboratories in classification and reporting of copy number variants (CNVs). Studies exploring factors affecting prenatal CNV management are rare. Our “virtual fetus” pilot study examines these factors.
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Has the introduction of increased genetic prenatal testing affected rates of termination of pregnancy due to fetal abnormality? Prenat. Diagn. (IF 3.0) Pub Date : 2024-02-13 Line Raaby, Stina Lou, Rikke Ramløv Lodberg Ivarsen, Jette Sørensen, Ole Halfdan Larsen, Ida Vogel
Genetic high-resolution analyses and improved diagnostic imaging have impacted the ability to detect fetal disorders. It is unknown if this resulted in an alteration in the number of terminations of pregnancy due to fetal anomalies (TOPFA). The objective was to describe the incidence and indication of TOPFA.
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Novel premature termination codon in the FOXP3 gene as the cause of familial hydrops fetalis in males Prenat. Diagn. (IF 3.0) Pub Date : 2024-02-11 Brighton Goodhue, MaryLou Smith, Kelly Bennett, Matthew Grace
A 19-year-old, G1P0, pregnant person was referred at 20w2d gestation for evaluation due to non-immune hydrops fetalis (NIHF), which was confirmed at the time of evaluation. Amniocentesis was performed at 20 w4d, and FISH, karyotype, chromosomal microarray, and exome sequencing (ES) were ordered. Trio ES identified a novel hemizygous c.142 C > T (p.Arg48*; maternally inherited) variant in the FOXP3
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The role of confined placental mosaicism in fetal growth restriction: A retrospective cohort study Prenat. Diagn. (IF 3.0) Pub Date : 2024-02-11 Geerke M. Eggenhuizen, Attie T. J. I. Go, Zoë Sauter, Mariëtte J. V. Hoffer, Monique C. Haak, Geert Geeven, Karin E. M. Diderich, Marieke Joosten, Myrthe van den Born, Malgorzata I. Srebniak, Diane Van Opstal
To evaluate which cytogenetic characteristics of confined placental mosaicism (CPM) detected in the first trimester chorionic villi and/or placentas in terms of chromosome aberration, cell lineage involved and trisomy origin will lead to fetal growth restriction and low birthweight.
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Early prenatal diagnosis of causative homozygous variants in ASCC1 in a fetus with cystic hygroma and additional homozygous variants of unknown significance associated with a neurological phenotype not visible in early gestation: Dual diagnosis or not? Prenat. Diagn. (IF 3.0) Pub Date : 2024-02-11 Maud Favier, Julian Delanne, Guillaume Gorincour, Laurence Faivre, Caroline Racine, Christophe Philippe, Yannis Duffourd, Antonio Vitobello, Thierry Rousseau, Olivia Martz, Georges Tarris, Camélia Oualiken, Christel Thauvin-Robinet, Frédéric Tran Mau-Them
A consanguineous couple was referred at 10 weeks of gestation (WG) for prenatal genetic investigations due to isolated cystic hygroma. Prenatal trio exome sequencing identified causative homozygous truncating variants in ASCC1 previously implicated in spinal muscular atrophy with congenital bone fractures. Prenatal manifestations in ASCC1 can usually include hydramnios, fetal hypo-/akinesia, arthrogryposis
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Knowledge gaps and confidence in counseling about aneuploidy screening and testing: A survey of prenatal care clinicians Prenat. Diagn. (IF 3.0) Pub Date : 2024-01-31 M. M. Thorsen, K. Khanuja, R. C. Mahoney, H. B. Al-Kouatly, M. L. Russo
Comprehensive counseling on prenatal genetic screening and diagnostic testing is challenging for clinicians. We sought to identify baseline clinician knowledge of prenatal genetic screening and diagnostic testing and needs to promote counseling aligned with ACOG recommendations.
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Twenty years of progress in the diagnosis and management of foetal urinary tract conditions Prenat. Diagn. (IF 3.0) Pub Date : 2024-01-29 Karin Blakemore, Lyn S. Chitty
CONFLICT OF INTEREST STATEMENT The authors declare no conflicts of interest.
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The expanded spectrum of human disease associated with GREB1L likely includes complex congenital heart disease Prenat. Diagn. (IF 3.0) Pub Date : 2024-01-29 Emily Zhao, Miles Bomback, Atlas Khan, Sarath Krishna Murthy, David Solowiejczyk, Neeta L. Vora, Kelly L. Gilmore, Jessica L. Giordano, Ronald J. Wapner, Simone Sanna-Cherchi, Alex Lyford, Angie C. Jelin, Ali G. Gharavi, Thomas Hays
GREB1L has been linked prenatally to Potter's sequence, as well as less severe anomalies of the kidney, uterus, inner ear, and heart. The full phenotypic spectrum is unknown. The purpose of this study was to characterize known and novel pre- and postnatal phenotypes associated with GREB1L.
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Validation of low-pass genome sequencing for prenatal diagnosis Prenat. Diagn. (IF 3.0) Pub Date : 2024-01-27 Chloe Mighton, Abdul Noor, Nicholas Watkins, Vanessa Di Gioacchino, Jordan Lerner-Ellis, Andrew Wong, Elvira Mukharryamova, Nina Anggala, David Chitayat, Elena Greenfeld
Chromosomal microarray (CMA), while considered the gold standard for detecting copy number variants (CNVs) in prenatal diagnostics, has its limitations, including the necessity to replace aging microarray equipment, low throughput, a static design, and an inefficient multi-day workflow. This study evaluates the feasibility of low-pass genome sequencing (LP-GS) as a potential replacement for CMA in
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Issue Information Prenat. Diagn. (IF 3.0) Pub Date : 2024-01-25
No abstract is available for this article.
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Fetal hyperechoic kidneys: Diagnostic considerations and genetic testing strategies Prenat. Diagn. (IF 3.0) Pub Date : 2024-01-27 Christine B. Hertenstein, Kristen A. Miller, Judy A. Estroff, Karin J. Blakemore
Isolated bilateral hyperechoic kidneys (HEK) on prenatal ultrasound presents diagnostic, prognostic, and counseling challenges. Prognosis ranges from normal outcome to lethal postnatally. Presence/absence of extra-renal malformations, gestational age at presentation, amniotic fluid volume, and renal size may distinguish underlying etiologies and thereby prognosis, as prognosis is highly dependent upon
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Oral Abstracts of the ISPD 27th International Conference on Prenatal Diagnosis and Therapy, Edinburgh, United Kingdom, 19–21 June 2023 Prenat. Diagn. (IF 3.0) Pub Date : 2024-01-25
EC-1 | Loss of Function of Maternal Effect Genes: A New Cause of Feto-Placental Developmental Defects and Congenital Anomalies Momal Sharif1, Roni Zemet2, Zahra Anvar1, Imen Chakchouk2, Ignatia Van den Veyver3 1Obstetrics and Gynecology, Baylor College of Medicine, Houston, Texas, USA; 2Baylor College of Medicine, Houston, Texas, USA; 3Obstetrics and Gynecology and Molecular and Human Genetics, Baylor
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Poster Abstracts of the ISPD 27th International Conference on Prenatal Diagnosis and Therapy, Edinburgh, United Kingdom, 19–21 June 2023 Prenat. Diagn. (IF 3.0) Pub Date : 2024-01-25
P-001 | Prenatal Description and Post-Mortem Characterization of a Progressive, Massive Cerebral Tumor in an Early Deceased Newborn: Evidence Supporting a Diagnosis of BRCA2-Related Fanconi Anemia Agnese Feresin1 Agnese Feresin1,2, Nicolas Bourgon3,4, Elisa Zanelli5, Pascale Sonigo5, David Grevent5, Philippe Roth3, Lise Larcher6, Jean Soulier6, Silvana Kalakech7, FerechteRazavi2, Pascale Varlet7, Bettina
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Author Index of the ISPD 27th International Conference on Prenatal Diagnosis and Therapy, Edinburgh, United Kingdom, 19–21 June 2023 Prenat. Diagn. (IF 3.0) Pub Date : 2024-01-25
A Aara, Husne P-142 Abbasi, Nimrah LC-02, P-016, P-024, P-056 Abdelhak, Yaakov P-199 Ackerman, Sara P-154, P-165 Acuña, Stephanie P-082 Adama van Scheltema, Phebe P-028, P-166 Adams, April LC-01 Adams, Sophie P-108, P-139, P-141, P-184, P-209, P-215, P-288-LB Adasme-Vidal, Catalina P-002 Adiyarianni, Ghina P-038 Agarwal, Neha P-049 Agenbag, Gloudi P-071 Aggarwal, Shagun LC-18 Ahmad, Raidah Binte P-114
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Improving prenatal diagnosis through standards and aggregation Prenat. Diagn. (IF 3.0) Pub Date : 2024-01-19 Michael H. Duyzend, Pilar Cacheiro, Julius O. B. Jacobsen, Jessica Giordano, Harrison Brand, Ronald J. Wapner, Michael E. Talkowski, Peter N. Robinson, Damian Smedley
Advances in sequencing and imaging technologies enable enhanced assessment in the prenatal space, with a goal to diagnose and predict the natural history of disease, to direct targeted therapies, and to implement clinical management, including transfer of care, election of supportive care, and selection of surgical interventions. The current lack of standardization and aggregation stymies variant interpretation
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Issue Information Prenat. Diagn. (IF 3.0) Pub Date : 2024-01-21
No abstract is available for this article.
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Predictors of fetal death, neonatal survival and neurological outcomes in severe twin-twin transfusion syndrome treated by laser ablation of placental vessels Prenat. Diagn. (IF 3.0) Pub Date : 2024-01-19 Cleisson Fábio Andrioli Peralta, Karina Jorge Rodrigues da Costa, Ana Clara Peneluppi Horak, Samara Pinheiro do Carmo Gomes, Elton Sousa Santos, Letícia Galvão Barbante, Renato Hideo Nakagawa Santos
To identify predictors of outcomes in severe twin oligo-polyhydramnios sequence (TOPS) with or without twin anemia-polycythemia sequence (TAPS) and/or selective fetal growth restriction (SFGR) treated by laser ablation of placental vessels (LAPV).
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Women's attitudes towards disclosure of genetic information in pregnancy with varying levels of penetrance Prenat. Diagn. (IF 3.0) Pub Date : 2024-01-14 Vitalia Libman, Michal Macarov, Yechiel Friedlander, Drorith Hochner-Celnikier, Yishai Sompolinsky, Uri P. Dior, Michael Osovsky, Lina Basel-Salmon, Arnon Wiznitzer, Yehuda Neumark, Vardiella Meiner, Ayala Frumkin, Hagit Hochner, Shiri Shkedi-Rafid
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.
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Unbalanced X;Y translocations carrying SRY in prenatal settings: Clinical, molecular, and cytogenetic analysis of three cases Prenat. Diagn. (IF 3.0) Pub Date : 2024-01-10 Xijing Liu, Zhu Zhang, Xuan Zhang, Jiamin Wang, Jieni Jiang, Lingping Li, He Wang, Shanling Liu, Ting Hu
Generally, the translocation of SRY onto one of the X chromosomes leads to 46, XX testicular disorders of sex development, a relatively rare condition characterized by the presence of testicular tissue with a 46, XX karyotype. Three prenatal cases of unbalanced X; Y translocation carrying SRY were identified in this study.
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Ethical reflections on organizing the first human trial of artificial womb technologies Prenat. Diagn. (IF 3.0) Pub Date : 2024-01-10 Alice Cavolo, Daniel Pizzolato
To investigate how to protect participants in the artificial womb technology (AWT) human trials.
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Response to the correspondence on “Performance of single-gene noninvasive prenatal testing for autosomal recessive conditions in a general population setting” Prenat. Diagn. (IF 3.0) Pub Date : 2024-01-09 Julia Wynn, Shannon Rego O'Rourke, Jennifer Hoskovec, Sriram C. Perni
We appreciate the opportunity to respond to the correspondence by Benn et al. on Wynn et al., a study of the performance of carrier screening with sgNIPT on a large, general population of its intended use. We feel the authors expressed unsubstantiated concerns about the need for and impact of the assay and methodology of the study. Benn et al. incorrectly claim that the need for carrier screening assessing
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Exteriorization of the uterus reduces fetoscopic cannula-induced stress and strain: A finite element model analysis Prenat. Diagn. (IF 3.0) Pub Date : 2024-01-07 Mirza A. Ahmad, Simen Vergote, Emmanuel Vander Poorten, Roland Devlieger, Paolo De Coppi, Edoardo Mazza, Jan Deprest
To estimate stresses and strains in the uterine wall and fetal membranes with single/multi-port fetoscopy, simulating either a percutaneous access or via exteriorized uterus.
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The genetic etiologies of bilateral renal agenesis Prenat. Diagn. (IF 3.0) Pub Date : 2024-01-05 Gregory W. Kirschen, Karin Blakemore, Huda B. Al-Kouatly, Gila Fridkis, Ahmet Baschat, John Gearhart, Angie C. Jelin
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.
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Telegenetics to provide comprehensive prenatal diagnosis Prenat. Diagn. (IF 3.0) Pub Date : 2024-01-04 April D. Adams, Robert Ball, Sandra Darilek
Telehealth is an effective way to increase access to genetic services and can address several challenges, including geographic barriers, a shortage of interpreter services, and workforce issues, especially for prenatal diagnosis. The addition of prenatal telegenetics to current workflows shows promise in enhancing the delivery of genetic counseling and testing in prenatal care, providing accessibility
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Pregnant women's informational needs prior to decisions about prenatal diagnosis for chromosomal anomalies—A Q methodological study Prenat. Diagn. (IF 3.0) Pub Date : 2024-01-02 Ellen Ternby, Ove Axelsson, Susanne Georgsson, Charlotta Ingvoldstad Malmgren
To study pregnant women's subjective viewpoints on what is important when receiving information prior to decision-making regarding prenatal testing for chromosomal anomalies.
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Mammalian target of rapamycin inhibitors: A new-possible approach for in-utero medication therapy Prenat. Diagn. (IF 3.0) Pub Date : 2024-01-04 Shohra Qaderi, Ali Javinani, Yair J. Blumenfeld, Eyal Krispin, Ramesha Papanna, Frank A. Chervenak, Alireza A. Shamshirsaz
The mammalian/mechanistic target of rapamycin (mTOR) is a protein kinase that plays a crucial role in regulating cellular growth, metabolism, and survival. Although there is no absolute contraindication for the use of mTOR inhibitors during pregnancy, the specific fetal effects remain unknown. Available data from the past 2 decades have examined the use of mTOR inhibitors during pregnancy in patients
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In-utero evaluation of the fetal umbilical–portal venous system among fetuses with persistent right umbilical vein: Two-and three-dimensional ultrasonographic study Prenat. Diagn. (IF 3.0) Pub Date : 2024-01-03 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
The aim of this study was to describe the anatomy of the portal system in fetuses with persistent right umbilical vein (PRUV).
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Preterm membranes are mechanically more resistant than term membranes Prenat. Diagn. (IF 3.0) Pub Date : 2024-01-02 Simen Vergote, Serjosha Robmann, Johannes Van Der Merwe, Jute Richter, Jan Deprest, Edoardo Mazza
To compare the biomechanical properties of fetal preterm membranes (20 + 0 weeks to 30 + 0 weeks) to those of the term (37 + 0 to 41 + 0 weeks).
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Prenatal diagnosis of pontocerebellar hypoplasia with postnatal follow-up Prenat. Diagn. (IF 3.0) Pub Date : 2024-01-02 Alienor Jaillard, Stéphanie Valence, Saskia Vande Perre, Ferdinand Dhombres, Delphine Héron, Thierry Billette de Villemeur, Boris Keren, Alexandra Afenjar, Leila Qebibo, Madeleine Harion, Geneviève Quenum-Miraillet, Diana Rodriguez, Jean-Marie Jouannic, Lydie Burglen, Catherine Garel
To describe the MR features enabling prenatal diagnosis of pontocerebellar hypoplasia (PCH).
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Prevalence of corpus callosum pathology in an unselected population. Should assessment of the corpus callosum be included in the routine 20 weeks scan? Prenat. Diagn. (IF 3.0) Pub Date : 2024-01-01 Mª Angeles Rodríguez, Mónica Echevarría, Laura Perdomo, Marta Gómez-Chiari, Sandra García, Pilar Prats, Bernat Serra, Gerard Albaiges
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.
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Novel compound heterozygous variants in EMC1: Overlapping phenotypes of left ventricular noncompaction and long QT syndrome warranting in-depth exploration Prenat. Diagn. (IF 3.0) Pub Date : 2023-12-31 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
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Raine syndrome: Prenatally identified severe craniofacial phenotype with multisuture synostosis and brain abnormalities associated with variants in FAM20C Prenat. Diagn. (IF 3.0) Pub Date : 2024-01-01 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
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Micro-CT and high-field MRI for studying very early post-mortem human fetal anatomy at 8 weeks of gestation Prenat. Diagn. (IF 3.0) Pub Date : 2023-12-31 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
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.
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Successful antenatal treatment of MAGED2-related Bartter syndrome and review of treatment options and efficacy Prenat. Diagn. (IF 3.0) Pub Date : 2023-12-30 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
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Trust in prenatal exome sequencing for expectant families facing unexplained fetal anomalies Prenat. Diagn. (IF 3.0) Pub Date : 2023-12-29 Harriet T. Rothschild, Billie R. Lianoglou, Nuriye N. Sahin Hodoglugil, Katie Tick, Julia E. H. Brown, Teresa N. Sparks
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.
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Prenatal characterization of novel neurosonographic findings in a fetus with SOTOS syndrome Prenat. Diagn. (IF 3.0) Pub Date : 2023-12-27 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
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Biallelic truncating TTN variants in M-band encoding exons cause a fetal lethal titinopathy Prenat. Diagn. (IF 3.0) Pub Date : 2023-12-26 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
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Diffuse interstitial lung disease in a male fetus with periventricular nodular heterotopia and filamin A mosaic variant Prenat. Diagn. (IF 3.0) Pub Date : 2023-12-26 Beatrice Desnous, Guillaume Carles, Florence Riccardi, Nathalie Stremler, Melissa Baravalle, Fedouah El-Louali, Benoit Testud, Mathieu Milh
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.
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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 Prenat. Diagn. (IF 3.0) Pub Date : 2023-12-23 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
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.
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Issue Information Prenat. Diagn. (IF 3.0) Pub Date : 2023-12-23
No abstract is available for this article.
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Renal and extra-renal phenotypes in a fetus with a de novo pathogenic variant in the HNF1B gene Prenat. Diagn. (IF 3.0) Pub Date : 2023-12-23 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