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 and delivery management. As a result, prenatal diagnosis has led to improved neonatal and infant outcomes. Updated fetal cardiac screening guidelines, coupled with technological advancements and educational efforts, have resulted in increased prenatal detection of CHD in both low- and high-risk populations...
April 12, 2024: Prenatal Diagnosis
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 intracardiac anomalies increases the likelihood that the patient has 22q11.2 DS, but those with an aortic arch anomaly and normal intracardiac anatomy are also at risk...
April 9, 2024: Prenatal Diagnosis
Sara Lemin, Harold J P van Bosse, Lauren Hutka, Shea Soberdash, Jay Patibandla
OBJECTIVE: To 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 DESIGN: An online survey was distributed via AMC support groups on Facebook. Topics included demographics, risk factors, parental recall of sonographic findings, delivery characteristics and neonatal findings. Responses were divided into antenatally detected cases (ADCs) and postnatally detected cases (PDCs)...
April 5, 2024: Prenatal Diagnosis
Tanya Tripathi, Jotara Watson, Hannah Skrzypek, Hanako Stump, Sharon Lewis, Lisa Hui
BACKGROUND: Emerging 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. METHODS: We conducted a qualitative study using semi-structured interviews with Australian women who had a lived experience of CMV infection following serological testing during pregnancy...
April 5, 2024: Prenatal Diagnosis
Margriet Johansen, Gloria T Haskell, Alexandra Arreola, Christine Riordan, Inder K Gadi, Andrea Penton, Peter R Papenhausen, Stuart Schwartz
OBJECTIVES: To 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. METHODS: This study retrospectively examines the prenatal detection of GWUPD in a cohort of ∼90,000 prenatal specimens and ∼20,000 products of conceptions (POCs) that were studied by SNP microarray...
April 1, 2024: Prenatal Diagnosis
Bhavya Kasera, Shiri Shinar, Parinita Edke, Vagisha Pruthi, Anna Goldenberg, Lauren Erdman, Tim Van Mieghem
OBJECTIVE: Many 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. METHODS: Standardized mid-sagittal ultrasound images of the fetal head and chest were collected for 560 fetuses between 11 and 13 weeks and 6 days of gestation, 88 (15...
April 1, 2024: Prenatal Diagnosis
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 may live into the third and fourth decade of life, some will die in the first few years of either renal failure or infection...
March 30, 2024: Prenatal Diagnosis
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 cerebral architecture, indicative of a prior insult in the affected twin. The co-twin was grossly normal...
March 28, 2024: Prenatal Diagnosis
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 hydrops fetalis, large cystic hygromas, bilateral talipes, and fetal akinesia in the second trimester. Genetic diagnoses were made using exome sequencing...
March 23, 2024: Prenatal Diagnosis
Ida Charlotte Bay Lund, Naja Becher, Dorte Lildballe, Lotte Andreasen, Simon Horsholt Thomsen, Else Marie Vestergaard, Ida Vogel
OBJECTIVE: To evaluate cell-free non-invasive prenatal testing (cfNIPT) in pregnancies affected by mosaicism. METHOD: We 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 from The Danish Fetal Medicine Database. RESULTS: Mosaicisms in CVS involved common aneuploidy, n = 14; sex chromosomal aneuploidies, n = 14; rare autosomal trisomies (RATs), n = 16 and copy number variants (CNVs) >5Mb, n = 9...
March 23, 2024: Prenatal Diagnosis
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 variants in the ROR2 gene, c.1324 C > T; p.(Arg442*) maternally inherited and c.1366dup; p...
March 19, 2024: Prenatal Diagnosis
Ian Koorn, Hanna Heinrich, Anne Nelissen, Nerissa Denswil, Ingeborg H Linskens, Charlotte H J R Jansen, Esther W Wortelboer, Eva Pajkrt
OBJECTIVES: To 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). METHODS: A 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 of the Amsterdam UMC (between 2007 and 2023) were analyzed...
March 19, 2024: Prenatal Diagnosis
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
OBJECTIVE: To 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. METHODS: We 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 having prenatal repair either through stapled hysterotomy or sutured mini-hysterotomy (≤3...
March 19, 2024: Prenatal Diagnosis
Zandra C Deans, Anna L David
No abstract text is available yet for this article.
March 19, 2024: Prenatal Diagnosis
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, suspicion of hypoplastic corpus callosum, and suspicion of gyration disorder with normal fossa posterior...
March 18, 2024: Prenatal Diagnosis
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
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
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
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
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
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