-
Artificial intelligence-based diagnosis in fetal pathology using external ear shapes Prenat. Diagn. (IF 3.0) Pub Date : 2024-04-18 Quentin Hennocq, Nicolas Garcelon, Thomas Bongibault, Thomas Bouygues, Sandrine Marlin, Jeanne Amiel, Lucile Boutaud, Maxime Douillet, Stanislas Lyonnet, Vèronique Pingault, Arnaud Picard, Marlèe Rio, Tania Attie-Bitach, Roman H. Khonsari, Nathalie Roux
Here we trained an automatic phenotype assessment tool to recognize syndromic ears in two syndromes in fetuses—=CHARGE and Mandibulo-Facial Dysostosis Guion Almeida type (MFDGA)—versus controls.
-
Noninvasive twin genotyping for recessive monogenic disorders by relative haplotype dosage Prenat. Diagn. (IF 3.0) Pub Date : 2024-04-22 Lingrong Kong, Zhenhua Zhao, Xinyu Fu, Huanyun Li, Jingqi Zhu, Di Wu, Xiangdong Kong, Luming Sun
ObjectiveTo establish a haplotype‐based noninvasive prenatal testing (NIPT) workflow for single‐gene recessive disorders that adapt to dizygotic (DZ) twin pregnancies.MethodTwin pregnancies at risk of Duchenne muscular dystrophy, Becker muscular dystrophy, hemophilia B, spinal muscular atrophy, phenylketonuria, and nonsyndromic hearing loss were recruited. For subsequent analysis, capture sequencing
-
Cardiac adaptation and malformation in twin–twin transfusion syndrome and selective fetal growth restriction: A systematic review Prenat. Diagn. (IF 3.0) Pub Date : 2024-04-21 Anne T. R. Noll, Manon Gijtenbeek, E. J. T (Joanne) Verweij, Liesbeth Lewi, Lotta Herling, Monique C. Haak
ObjectivesThis systematic review explores cardiac adaptation in monochorionic (MC) twins with twin–twin transfusion syndrome (TTTS) or selective fetal growth restriction (sFGR) and assesses the risk of congenital heart defects (CHDs).MethodsAdhering to PRISMA guidelines, 63 studies were reviewed (49 on cardiac adaptation, 13 on CHD, one on both). A narrative synthesis of cardiac adaptation patterns
-
Perinatal outcomes of fetoscopic selective laser photocoagulation for spontaneous twin‐anemia polycythemia sequence Prenat. Diagn. (IF 3.0) Pub Date : 2024-04-21 Jessian L. Munoz, Cara Buskmiller, Magdalena Sanz Cortes, Roopali V. Donepudi, Michael A. Belfort, Ahmed A. Nassr
ObjectivesAntenatal management of monochorionic pregnancies complicated by twin anemia polycythemia sequence (TAPS) remains sub‐optimally defined. Our objective was to evaluate the safety and efficacy of fetoscopic selective laser photocoagulation with respect to fetal and neonatal survival.MethodsA case series is reported with patients referred to the Texas Children's Fetal Center for evaluation and
-
Numbers of prenatal cell‐free DNA screens performed: Results of a 2022 CAP exercise Prenat. Diagn. (IF 3.0) Pub Date : 2024-04-16 Glenn E. Palomaki, Philip Wyatt, Ross Rowsey, Phillip Michael Cacheris, Nathalie Lepage, Marvin R. Natowicz, Thomas Long, Ann M. Moyer
ObjectiveDetermine current analytical methods and number of cell‐free (cf) DNA prenatal screening tests performed for common trisomies.MethodsThe College of American Pathologists 2022‐B Noninvasive Prenatal Testing exercise was distributed in December 2022 to 93 participants in 22 countries. Supplemental questions included the number of tests performed in a recent month and the proportion of samples
-
Feasibility of magnetoencephalography in fetuses with cyanotic congenital heart disease Prenat. Diagn. (IF 3.0) Pub Date : 2024-04-16 Elijah H. Bolin, Diana Escalona‐Vargas, Eric R. Siegel, Luis Mercado, Tara Johnson, Hari Eswaran
Key pointsWhat's already known about this topic? A disproportionate number of children with cyanotic heart disease suffer from neurodevelopmental (ND) impairment, which is believed to be due in part to abnormal cerebral development in utero. Magnetoencephelography (MEG) is a non‐invasive method for assessing neurodevelopment, but has not been studied in fetuses with congenital heart disease (CHD).
-
High positive predictive value 22q11.2 microdeletion screening by prenatal cell‐free DNA testing that incorporates fetal fraction amplification Prenat. Diagn. (IF 3.0) Pub Date : 2024-04-16 Carly Hammer, Summer Pierson, Ashley Acevedo, James Goldberg, Thomas Westover, Devika Chawla, Brent Mabey, Dale Muzzey, Katherine Johansen Taber
Objective22q11.2 deletion syndrome (DS) is a serious condition with a range of features. The small microdeletion causing 22q11.2DS makes it technically challenging to detect using standard prenatal cfDNA screening. Here, we assess 22q11.2 microdeletion clinical performance by a prenatal cfDNA screen that incorporates fetal fraction (FF) amplification.MethodsThe study cohort consisted of patients who
-
Fetal cardiac screening: 1st trimester and beyond Prenat. Diagn. (IF 3.0) Pub Date : 2024-04-13 Lindsay R. Freud, Lynn L. Simpson
Congenital heart defects (CHD) are the most common birth defect and a leading cause of infant morbidity and mortality. CHD often occurs in low‐risk pregnant patients, which underscores the importance of routine fetal cardiac screening at the time of the 2nd trimester ultrasound. Prenatal diagnosis of CHD is important for counseling and decision‐making, focused diagnostic testing, and optimal perinatal
-
Issue Information Prenat. Diagn. (IF 3.0) Pub Date : 2024-04-10
No abstract is available for this article.
-
Prenatal cardiac findings and 22q11.2 deletion syndrome: Fetal detection and evaluation Prenat. Diagn. (IF 3.0) Pub Date : 2024-04-09 Elizabeth Goldmuntz, Anne S. Bassett, Erik Boot, Bruno Marino, Julie S. Moldenhauer, Sólveig Óskarsdóttir, Carolina Putotto, Jack Rychik, Erica Schindewolf, Donna M. McDonald‐McGinn, Natalie Blagowidow
Clinical features of 22q11.2 microdeletion syndrome (22q11.2DS) are highly variable between affected individuals and frequently include a subset of conotruncal and aortic arch anomalies. Many are diagnosed with 22q11.2DS when they present as a fetus, newborn or infant with characteristic cardiac findings and subsequently undergo genetic testing. The presence of an aortic arch anomaly with characteristic
-
Prenatal diagnosis (or lack thereof) of arthrogryposis multiplex congenita and its impact on the perinatal experience of parents: A retrospective survey Prenat. Diagn. (IF 3.0) Pub Date : 2024-04-05 Sara Lemin, Harold J. P. van Bosse, Lauren Hutka, Shea Soberdash, Jay Patibandla
ObjectiveTo examine parental experiences during pregnancies affected by Arthrogryposis Multiplex Congenita (AMC) by identifying commonalities, risk factors, and areas for improvement in detection rates, care protocols, and patient experience.Study DesignAn online survey was distributed via AMC support groups on Facebook. Topics included demographics, risk factors, parental recall of sonographic findings
-
“The anxiety coming up to every scan—It destroyed me”: A qualitative study of the lived experience of cytomegalovirus infection during pregnancy Prenat. Diagn. (IF 3.0) Pub Date : 2024-04-05 Tanya Tripathi, Jotara Watson, Hannah Skrzypek, Hanako Stump, Sharon Lewis, Lisa Hui
BackgroundEmerging evidence supporting the use of valaciclovir to reduce fetal infection after maternal primary cytomegalovirus (CMV) infection has stimulated interest in routine CMV serological screening in pregnancy. It is important to understand the healthcare consumer perspective of a CMV infection during pregnancy to minimize unintended harms of screening.MethodsWe conducted a qualitative study
-
Deep‐learning computer vision can identify increased nuchal translucency in the first trimester of pregnancy Prenat. Diagn. (IF 3.0) Pub Date : 2024-04-01 Bhavya Kasera, Shiri Shinar, Parinita Edke, Vagisha Pruthi, Anna Goldenberg, Lauren Erdman, Tim Van Mieghem
ObjectiveMany fetal anomalies can already be diagnosed by ultrasound in the first trimester of pregnancy. Unfortunately, in clinical practice, detection rates for anomalies in early pregnancy remain low. Our aim was to use an automated image segmentation algorithm to detect one of the most common fetal anomalies: a thickened nuchal translucency (NT), which is a marker for genetic and structural anomalies
-
Prenatal detection of mosaicism for a genome wide uniparental disomy cell line in a cohort of patients: Implications and outcomes Prenat. Diagn. (IF 3.0) Pub Date : 2024-04-01 Margriet Johansen, Gloria T. Haskell, Alexandra Arreola, Christine Riordan, Inder K. Gadi, Andrea Penton, Peter R. Papenhausen, Stuart Schwartz
ObjectivesTo investigate the prenatal detection rate of mosaicism by SNP microarray analysis, in which an individual has not one, but two, complete genomes (sets of DNA) in their body, a normal biparental line with a Genome Wide Uniparental Disomy (GWUPD) cell line was used.MethodsThis study retrospectively examines the prenatal detection of GWUPD in a cohort of ∼90,000 prenatal specimens and ∼20,000
-
Case report of fetus with Lowe syndrome: Expanding the prenatal phenotype Prenat. Diagn. (IF 3.0) Pub Date : 2024-03-30 Natalie Burrill, Nahla Khalek, Edward R. Oliver, Rebecca Linn, Teresa Victoria, Carin Yates, Julie S. Moldenhauer
Oculocerebrorenal syndrome (Lowe syndrome) is a rare X‐linked disorder affecting 1/500,000 males that most frequently affects the eyes, central nervous system, and kidneys. Phenotypic presentation includes congenital cataracts, developmental delay, intellectual disability, and Fanconi‐type renal dysfunction. Lowe Syndrome is caused by hemizygous loss of function variants in the OCRL gene. While individuals
-
Fetus with multiple congenital anomaly syndrome caused by novel variant in ATP1A2 Prenat. Diagn. (IF 3.0) Pub Date : 2024-03-29 Natalie Burrill, Nahla Khalek, Ana G. Cristancho, Beverly Coleman, Jill Murrell, Julie S. Moldenhauer
We report a 32‐year‐old G3P1 at 35 weeks 3 days with a dichorionic, diamniotic twin gestation who presented for evaluation secondary to ventriculomegaly (VM) in one twin. Fetal ultrasound and MRI demonstrated microcephaly, severe VM, compression of the corpus callosum, scalp and nuchal thickening, elongated ears, bilateral talipes, right‐sided congenital diaphragmatic hernia (CDH), and loss of normal
-
Lethal multiple pterygium syndrome, large cystic hygroma, and cleft palate: Rare and severe fetal presentations of RYR1- and NEB-related congenital myopathies Prenat. Diagn. (IF 3.0) Pub Date : 2024-03-23 Molly Jackson, Mary Ann Thomas, Ian Suchet, Houman Mahallati, Verena Kuret, Julie Lauzon
Congenital myopathies are a genetically heterogeneous group of neuromuscular disorders that commonly present with congenital hypotonia and weakness but can also present broadly. The most severe presentation is neonatal with arthrogryposis and, rarely, fetal akinesia and pterygia, features also seen in lethal multiple pterygium syndrome (LMPS). We describe two fetuses with similar phenotype, including
-
Use of cell‐free non‐invasive prenatal testing in pregnancies affected by placental mosaicism Prenat. Diagn. (IF 3.0) Pub Date : 2024-03-23 Ida Charlotte Bay Lund, Naja Becher, Dorte Lildballe, Lotte Andreasen, Simon Horsholt Thomsen, Else Marie Vestergaard, Ida Vogel
ObjectiveTo evaluate cell‐free non‐invasive prenatal testing (cfNIPT) in pregnancies affected by mosaicism.MethodWe assessed paired cfNIPT and chorionic villus sample (CVS) results from the same pregnancies in a case series of mosaicism detected in Central and North Denmark Regions from April 2014 to September 2018. Indications for the clinically obtained CVS, pregnancy markers and outcome were retrieved
-
Prenatal diagnosis of ROR‐2 related Robinow syndrome presenting with fetal ultrasound findings of mesomelia, vertebral, digital and genital abnormalities Prenat. Diagn. (IF 3.0) Pub Date : 2024-03-20 Liying Yang, Patrick Shannon, Rachel Silver, Maian Roifman, Carin Yates, David Chitayat
Autosomal recessive ROR2‐Robinow syndrome is caused by pathogenic variants in the ROR2 gene. Fetal ultrasound done on our patient at 24 + 3/7 weeks gestation showed macrocephaly, brachycephaly, flat face, prominent forehead, mild frontal bossing, lower thoracic hemivertebrae, digital abnormalities and micropenis. Fetal trio whole exome sequencing done on amniocytes showed two pathogenic compound heterozygous
-
Highlights of the 27th ISPD annual conference hosted in the historic and atmospheric city of Edinburgh Prenat. Diagn. (IF 3.0) Pub Date : 2024-03-19 Zandra C. Deans, Anna L. David
-
Isolated fetal umbilical vein varix and the association with intrauterine fetal death and fetal growth restriction: A systematic review, meta‐analysis, and nested retrospective cohort study Prenat. Diagn. (IF 3.0) Pub Date : 2024-03-19 Ian Koorn, Hanna Heinrich, Anne Nelissen, Nerissa Denswil, Ingeborg H. Linskens, Charlotte H. J. R. Jansen, Esther W. Wortelboer, Eva Pajkrt
ObjectivesTo assess the risk of intrauterine fetal death (IUFD) and fetal growth restriction (FGR) in fetuses with an isolated fetal intra‐abdominal umbilical vein varix (i‐FIUVV).MethodsA retrospective cohort study combined with a systematic review and meta‐analysis of the literature was performed. In the retrospective cohort study, all singleton fetuses with an i‐FIUVV in the fetal medicine units
-
Length of hysterotomy for fetal spina bifida repair is associated with prematurity risk Prenat. Diagn. (IF 3.0) Pub Date : 2024-03-19 Kanokwaroon Watananirun, Anna M. L. F. Vargas, Simen Vergote, Liesbeth Lewi, Marcelo O. L. Filippo, Peter McCulloch, Roland Devlieger, Cleisson F. A. Peralta, Jan Deprest
ObjectiveTo investigate whether prenatal repair of spina bifida aperta through mini‐hysterotomy results in less prematurity, as compared to standard hysterotomy, when adjusting for known prematurity risks.MethodsWe performed a bi‐centric, propensity score matched, controlled study, that is, adjusting for factors earlier reported to result in premature delivery or membrane rupture, in consecutive women
-
Enlarged cavum septum pellucidum and small thymus as markers for 22q11.2 deletion syndrome Prenat. Diagn. (IF 3.0) Pub Date : 2024-03-18 Kimberly B. Gaiser, Erica M. Schindewolf, Laura J. Conway, Beverly G. Coleman, Edward R. Oliver, Jack R. Rychik, Suzanne E. Debari, Donna M. Mcdonald‐Mcginn, Elaine H. Zackai, Julie S. Moldenhauer, Juliana S. Gebb
BackgroundEnlarged cavum septum pellucidum (CSP) and hypoplastic thymus are proposed extra‐cardiac fetal markers for 22q11.2 deletion syndrome. We sought to determine if they were part of the fetal phenotype of our cohort of fetuses with 22q11.2 deletion syndrome.MethodsCase‐control study of fetuses evaluated from 2016 to 2022. The study group included fetuses with laboratory confirmation of 22q11
-
Prenatal phenotype of a homozygous nonsense MPDZ variant in a fetus with severe congenital hydrocephalus Prenat. Diagn. (IF 3.0) Pub Date : 2024-03-18 Nathalie Vanden Eynde, Eve Van den Mooter, Elise Vantroys, Elke De Schutter, Astrid Leus, Kathelijn Keymolen, Boyan Dimitrov, Kim van Berkel
The fetal phenotype of MPDZ‐associated congenital hydrocephalus type 2 with or without brain or eye anomalies (HYC2) (OMIM 615219) is not well described in the literature. The present case shows not previously published clinical fetal features that are detected during routine second trimester ultrasound screening at 21 weeks of gestation such as bilateral ventriculomegaly, lean cavum septum pellucidum
-
Eliminating first trimester combined testing: Consequences for early detection of significant fetal anomalies Prenat. Diagn. (IF 3.0) Pub Date : 2024-03-18 M. A. Lugthart, H. Heinrich, I. Ertugrul, E. N. Nsiah‐Asare, K. van de Kamp, I. H. Linskens, M. C. van Maarle, E. van Leeuwen, E. Pajkrt
ObjectiveTo determine whether implementation of cell‐free DNA (cfDNA) testing for aneuploidy as a first‐tier test and subsequent abolition of first trimester combined testing (FCT) affected the first trimester detection (<14 weeks) of certain fetal anomalies.MethodsWe performed a geographical cohort study in two Fetal Medicine Units between 2011 and 2020, including 705 fetuses with prenatally detected
-
Uptake rate of carrier screening among consanguineous couples Prenat. Diagn. (IF 3.0) Pub Date : 2024-03-18 Julianne Ricca, Justin S. Brandt, Natalie Jacob, Elena Ashkinadze
ObjectiveTo quantify the uptake rates of Carrier Screening (CS) in consanguineous couples and compare this rate to that of non‐consanguineous couples.MethodsWe performed a matched case control study of 82 consanguineous couples seen at Rutgers‐Robert Wood Johnson Medical school who were offered carrier screening between January 1, 2012 and October 10, 2022. We then matched each consanguineous female
-
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
-
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
-
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
-
Issue Information Prenat. Diagn. (IF 3.0) Pub Date : 2024-03-15
No abstract is available for this article.
-
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
-
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 : 2024-03-08 Olivia B. Chafitz, Nicole S. Feigenblum, Andrew S. Haddad, Yaakov E. Abdelhak, Antonia F. Oladipo
What is already known?
-
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.
-
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.
-
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
-
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
-
‘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
In 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.
-
Patient experiences with prenatal cell-free DNA screening in a safety net setting Prenat. Diagn. (IF 3.0) Pub Date : 2024-02-29 Kirsten A. Riggan, Amelia Barwise, Jane Q. Yap, Niamh Condon, Megan A. Allyse
Thirty-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.
-
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.
-
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
-
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.
-
Issue Information Prenat. Diagn. (IF 3.0) Pub Date : 2024-02-16
No abstract is available for this article.
-
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.
-
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
-
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
-
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.
-
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.
-
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.
-
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
-
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
-
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.
-
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.
-
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.
-
Issue Information Prenat. Diagn. (IF 3.0) Pub Date : 2024-01-25
No abstract is available for this article.
-
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
-
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
-
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
-
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
-
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
-
Issue Information Prenat. Diagn. (IF 3.0) Pub Date : 2024-01-21
No abstract is available for this article.