journal
https://read.qxmd.com/read/38497814/uptake-rate-of-carrier-screening-among-consanguineous-couples
#1
JOURNAL ARTICLE
Julianne Ricca, Justin S Brandt, Natalie Jacob, Elena Ashkinadze
OBJECTIVE: To quantify the uptake rates of Carrier Screening (CS) in consanguineous couples and compare this rate to that of non-consanguineous couples. METHODS: We 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 patient to a non-consanguineous female control patient who was also offered CS at the time of their genetic counseling appointment...
March 18, 2024: Prenatal Diagnosis
https://read.qxmd.com/read/38497811/enlarged-cavum-septum-pellucidum-and-small-thymus-as-markers-for-22q11-2-deletion-syndrome
#2
JOURNAL ARTICLE
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
BACKGROUND: Enlarged 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. METHODS: Case-control study of fetuses evaluated from 2016 to 2022. The study group included fetuses with laboratory confirmation of 22q11.2 deletion syndrome. The control group included pregnancies with conotruncal cardiac anomalies with normal microarray as well as structurally normal fetuses with normal microarray...
March 18, 2024: Prenatal Diagnosis
https://read.qxmd.com/read/38497783/eliminating-first-trimester-combined-testing-consequences-for-early-detection-of-significant-fetal-anomalies
#3
JOURNAL ARTICLE
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
OBJECTIVE: To 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. METHODS: We performed a geographical cohort study in two Fetal Medicine Units between 2011 and 2020, including 705 fetuses with prenatally detected severe brain, abdominal wall and congenital heart defects...
March 18, 2024: Prenatal Diagnosis
https://read.qxmd.com/read/38489018/prenatal-detection-rates-for-congenital-heart-disease-using-abnormal-obstetrical-screening-ultrasound-alone-as-indication-for-fetal-echocardiography
#4
JOURNAL ARTICLE
Sanjay Vepa, Mubarika Alavi, Weilu Wu, Julie Schmittdiel, Lisa J Herrinton, Kavin Desai
OBJECTIVE: To 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 medicine (MFM). The impact on fetal echocardiography utilization was also assessed. METHODS: This was a retrospective cohort study using an electronic health record, outside claims databases and chart review to determine all live births between 2016 and 2020 with postnatally confirmed sCHD that were prenatally detectable and resulted in cardiac surgery, intervention, or death within 1 year...
March 15, 2024: Prenatal Diagnosis
https://read.qxmd.com/read/38488843/a-capture-based-method-of-prenatal-cell-free-dna-screening-for-autosomal-recessive-non-syndromic-hearing-loss
#5
JOURNAL ARTICLE
Qian Mu, Ling Bai, Bing Xu, Huawen Du, Zhaoyun Jiang, Shasha Huang, Bo Gao, Qixi Wu, Hanqing Zhao, Pu Dai, Yi Jiang
OBJECTIVE: This 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. METHODS: This assay measured the allele counts in both white blood cell DNA and cfDNA from the blood samples of pregnant women using a capture-based next-generation sequencing method...
March 15, 2024: Prenatal Diagnosis
https://read.qxmd.com/read/38488835/clinical-experience-of-next-generation-sequencing-based-expanded-carrier-screening-in-high-risk-couples-from-a-tertiary-healthcare-center-in-pakistan
#6
JOURNAL ARTICLE
Fizza Akbar, Salman Kirmani, Muhammad Farrukh Qazi, Najia Minhas Ali, Zohra Hasan Ali, Bushra Afroze
INTRODUCTION: Carrier 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. METHOD: Retrospective chart review of couples who presented to the Prenatal Genetics Clinic at Aga Khan University Hospital, between the period of June 2018 and November 2022...
March 15, 2024: Prenatal Diagnosis
https://read.qxmd.com/read/38459741/caution-with-noninvasive-prenatal-screening-for-single-gene-disorders-a-case-report-of-a-col1a1-variant-in-osteogenesis-imperfecta
#7
JOURNAL ARTICLE
Olivia B Chafitz, Nicole S Feigenblum, Andrew S Haddad, Yaakov E Abdelhak, Antonia F Oladipo
No abstract text is available yet for this article.
March 8, 2024: Prenatal Diagnosis
https://read.qxmd.com/read/38459708/obstetric-imaging-practice-characteristics-associated-with-prenatal-detection-of-critical-congenital-heart-disease-in-a-rural-us-region-over-20%C3%A2-years
#8
JOURNAL ARTICLE
Kelley C McLean, Marjorie C Meyer, Sarah R Peters, Lia D Wrenn, Scott B Yeager, Jonathan N Flyer
OBJECTIVE: To 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. METHODS: This was a retrospective cohort study of all patients in the referral region with an initial prenatal and/or postnatal diagnosis of CCHD from 01/01/2002 to 12/31/2021...
March 8, 2024: Prenatal Diagnosis
https://read.qxmd.com/read/38448010/prenatal-diagnosis-and-in-utero-treatment-of-congenital-adrenal-hyperplasia-an-up-to-date-comprehensive-review
#9
REVIEW
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 controversial, there is recent evidence that this treatment can reduce long-term complications.
March 6, 2024: Prenatal Diagnosis
https://read.qxmd.com/read/38448008/performance-of-cell-free-dna-testing-for-common-fetal-trisomies-in-triplet-pregnancies
#10
JOURNAL ARTICLE
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
OBJECTIVE: 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. METHOD: We performed a retrospective cohort study including data from pregnant women with a triplet pregnancy who underwent cfDNA testing between May 1, 2017, and January 15, 2020...
March 6, 2024: Prenatal Diagnosis
https://read.qxmd.com/read/38447986/labyrinthine-cor-triatriatum-sinister-in-fetal-hypoplastic-left-heart-syndrome-is-associated-with-poor-outcomes
#11
JOURNAL ARTICLE
Amna Qasim, Tam T Doan, Betul Yilmaz Furtun, Ziyad Binsalamah, Iki Adachi, Shaine A Morris
OBJECTIVES: 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. METHODS: This single-center retrospective cohort study included all HLHS fetuses from January 2010-December 2020. Fetuses with other hypoplastic-left-heart variants, inadequate images, lack of follow-up and fetal atrial-septal interventions were excluded...
March 6, 2024: Prenatal Diagnosis
https://read.qxmd.com/read/38446572/fetal-diagnosis-and-management-of-pulmonary-artery-sling-a%C3%A2-case-series
#12
JOURNAL ARTICLE
Scott Bennett, Lisa K Hornberger, Deborah Fruitman, Timothy J Bradley, Gitanjali P Mansukhani
OBJECTIVE: Pulmonary 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 posterior to the trachea causing tracheal compression and, at times, bronchial compression...
March 6, 2024: Prenatal Diagnosis
https://read.qxmd.com/read/38441167/-something-that-helped-the-whole-picture-experiences-of-parents-offered-rapid-prenatal-exome-sequencing-in-routine-clinical-care-in-the-english-national-health-service
#13
JOURNAL ARTICLE
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
OBJECTIVES: 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. METHODS: In this qualitative study, semi-structured interviews were conducted with 42 women and 6 male partners and 63 fetal medicine and genetic health professionals...
March 5, 2024: Prenatal Diagnosis
https://read.qxmd.com/read/38423995/patient-experiences-with-prenatal-cell-free-dna-screening-in-a-safety-net-setting
#14
JOURNAL ARTICLE
Kirsten A Riggan, Amelia Barwise, Jane Q Yap, Niamh Condon, Megan A Allyse
OBJECTIVES: 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. METHODS: Black and Hispanic patients receiving prenatal care from a prenatal or maternal fetal medicine clinic at a federally qualified health center in Jacksonville, FL were invited to participate in a qualitative interview in English or Spanish to explore experiences and perceptions of prenatal cfDNA screening...
February 29, 2024: Prenatal Diagnosis
https://read.qxmd.com/read/38411249/noninvasive-single-cell-based-prenatal-genetic-testing-a%C3%A2-proof-of-concept-clinical-study
#15
JOURNAL ARTICLE
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
OBJECTIVE: To clinically assess a cell-based noninvasive prenatal genetic test using sequence-based copy number analysis of single trophoblasts from maternal blood. METHODS: Blood was obtained from 401 (243 + 158) individuals (8-22 weeks) and shipped overnight. Red cells were lysed, and nucleated cells stained for cytokeratin (CK) and CD45 and enriched for positive CK staining. Automated scanning was used to identify and pick single CK+ /CD45- trophoblasts which were subjected to next-generation sequencing...
February 27, 2024: Prenatal Diagnosis
https://read.qxmd.com/read/38367004/postmortem-imaging-of-fetuses-at-early-gestations-a-comparison-of-microfocus-computed-tomography-with-postmortem-magnetic-resonance-at-9-4%C3%A2-t-and-postmortem-ultrasound
#16
JOURNAL ARTICLE
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
OBJECTIVE: 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. METHOD: Eight unselected fetuses (10-15 weeks gestational age) underwent at least 2 of the 3 listed imaging examinations. Six fetuses underwent 9.4 T MRI, four underwent micro-CT and six underwent PMUS. All operators were blinded to clinical history...
February 17, 2024: Prenatal Diagnosis
https://read.qxmd.com/read/38366977/a-de-novo-pathogenic-variant-in-dhx30-gene-in-a-fetus-with-isolated-dysgenesis-of-the-corpus-callosum
#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 diameters were in the normal low range without associated growth restriction. Associated anomalies were not detected in the brain or other organs...
February 17, 2024: Prenatal Diagnosis
https://read.qxmd.com/read/38363003/the-evolving-genetic-etiology-of-conotruncal-anomalies
#18
JOURNAL ARTICLE
Adalina Sacco, Ronel Talker, Lyndall Sarkies, Tazeen Ashraf, Natalie Jane Chandler, Pranav Pandya, Victoria Jowett, Sara Hillman
OBJECTIVE: To assess the diagnostic yield of genetic testing for antenatally detected conotruncal defects. METHOD: This was a retrospective analysis of all antenatally detected cases of conotruncal anomalies over a 4-year period. Patients were offered antenatal and postnatal genetic testing including QF-PCR, microarray and exome sequencing (ES) antenatally or genome sequencing (GS) postnatally on a case-by-case basis. RESULTS: There were 301 cases included...
February 16, 2024: Prenatal Diagnosis
https://read.qxmd.com/read/38353311/exploring-the-factors-affecting-classification-and-reporting-of-uncertain-prenatal-microarray-findings-using-a-virtual-fetus-model-a-pilot-study
#19
JOURNAL ARTICLE
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
OBJECTIVE: 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. METHOD: Ten prenatally diagnosed CNVs of uncertain significance (VUS) > 1Mb, encompassing OMIM-morbid genes, inherited from healthy parents, were classified by 15 MD geneticists from laboratory, prenatal, and preimplantation genetic testing (PGT) units...
February 14, 2024: Prenatal Diagnosis
https://read.qxmd.com/read/38348952/has-the-introduction-of-increased-genetic-prenatal-testing-affected-rates-of-termination-of-pregnancy-due-to-fetal-abnormality
#20
JOURNAL ARTICLE
Line Raaby, Stina Lou, Rikke Ramløv Lodberg Ivarsen, Jette Sørensen, Ole Halfdan Larsen, Ida Vogel
OBJECTIVE: 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. METHODS: A descriptive study based on records from the Regional Abortion Council in the Central Denmark Region from 2008 to 2021 consisting of 1895 TOPFA...
February 13, 2024: Prenatal Diagnosis
journal
journal
28176
1
2
Fetch more papers »
Fetching more papers... Fetching...
Remove bar
Read by QxMD icon Read
×

Save your favorite articles in one place with a free QxMD account.

×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"

We want to hear from doctors like you!

Take a second to answer a survey question.