Review
Genetics & Heredity
Neel S. Iyer, Alexis C. Gimovsky, Carlos R. Ferreira, Elizabeth Critchlow, Huda B. Al-Kouatly
Summary: This study found that the incidence of lysosomal storage disorders in cases of nonimmune hydrops fetalis was 6.6% overall and 8.2% in idiopathic cases. The most common LSDs identified were mucopolysaccharidosis type VII, galactosialidosis, infantile sialic acid storage disease, Gaucher disease, GM1 gangliosidosis, and sialidosis. Over 40% of these LSDs have potential postnatal treatment options, highlighting the importance of early diagnosis and appropriate management.
Review
Genetics & Heredity
Andrea M. Quinn, Breanna N. Valcarcel, Mona M. Makhamreh, Huda B. Al-Kouatly, Seth I. Berger
Summary: Hydrops fetalis (HF) is a life-threatening condition caused by fluid accumulation in fetal compartments, with genetic causes including chromosomal and monogenic disorders. Current clinical workup often does not fully evaluate genetic targets, leading to a need for broader molecular testing. Research identifies numerous genes associated with nonimmune HF, some with emerging evidence, suggesting potential treatment implications. Broad sequencing approaches like exome sequencing may be useful in improving clinical management of HF.
GENETICS IN MEDICINE
(2021)
Article
Genetics & Heredity
Yuan Chen, Ying Jiang, Bangwu Chen, Yeqing Qian, Jiao Liu, Mengmeng Yang, Baihui Zhao, Qiong Luo
Summary: Nonimmune hydrops fetalis is a serious fetal condition that can be diagnosed prenatally by ultrasound, but determining the underlying etiology remains a challenge. Whole exome sequencing revealed mutations in the PIEZO1 gene related to NIHF, with potential positive impact on prognosis assessment.
FRONTIERS IN GENETICS
(2021)
Article
Genetics & Heredity
Huda B. Al-Kouatly, Mona M. Makhamreh, Stephanie M. Rice, Kelsey Smith, Christopher Harman, Andrea Quinn, Breanna N. Valcarcel, Brandy Firman, Ruby Liu, Madhuri Hegde, Elizabeth Critchlow, Seth I. Berger
Summary: Testing with prenatal exome sequencing (ES) for nonimmune hydrops fetalis (NIHF) after negative standard workup can yield 50% diagnostic results and may provide crucial information for postnatal prognosis and future pregnancies.
GENETICS IN MEDICINE
(2021)
Article
Genetics & Heredity
Danhua Guo, Shuqiong He, Na Lin, Yifang Dai, Ying Li, Liangpu Xu, Xiaoqing Wu
Summary: In this study, the incidence of chromosomal abnormalities and Bart's hydrops fetalis in pregnancies associated with non-immune hydrops fetalis (NIHF) in South China was investigated. The results showed that chromosomal abnormalities were detected in 29.5% of the NIHF pregnancies, and Bart's hydrops fetalis occurred in 34.9% of the cases. Moreover, cases with generalized skin edema and accompanying ultrasonic abnormalities predicted adverse outcomes, highlighting the importance of intensive monitoring and better pregnancy management for NIHF patients.
BMC MEDICAL GENOMICS
(2023)
Article
Genetics & Heredity
Leila Ghesh, Thomas Besnard, Madeleine Joubert, Veronique Picard, Claudine Le Vaillant, Claire Beneteau
Summary: Dehydrated hereditary stomatocytosis (DHS) is a rare disorder characterized by red blood cell permeability and is caused by pathogenic variants in PIEZO1 or KCNN4 genes. This study reports the first fetal loss due to non-immune hydrops fetalis related to a pathogenic deletion in the KCNN4 gene, highlighting the importance of close monitoring during pregnancies of DHS patients.
Article
Obstetrics & Gynecology
Kate Swanson, Mary E. Norton, Sarah L. Downum, Juan M. Gonzalez-Velez, Teresa N. Sparks
Summary: Objective Nonimmune hydrops fetalis (NIHF) is associated with poor perinatal outcomes including preterm birth (PTB). However, the frequency and causes of PTB in this population are not well understood. We hypothesized that NIHF frequently results in PTB due to medically indicated delivery for fetal distress.
AMERICAN JOURNAL OF PERINATOLOGY
(2023)
Article
Pediatrics
Rita Gomes, Bebiana Sousa, Claudia Falcao Reis, Anabela Bandeira, Lurdes Morais, Sandra Pereira, Sara Leite, Carmen Carvalho
Summary: This case report presents a case of hydrops fetalis in pregnancy, with the main cause being galactosialidosis (GS). Early diagnosis is crucial for providing better care and genetic counseling for future pregnancies.
JOURNAL OF PEDIATRIC AND NEONATAL INDIVIDUALIZED MEDICINE
(2022)
Article
Endocrinology & Metabolism
Sebile Kilavuz, Murat Basaranoglu, Serdar Epcacan, Derya Bako, Arife Ozer, Yasemin Nuran Donmez, Emine Ipek Ceylan, Ajlan Tukun, Serdar Ceylaner, Hadi Geylani, Halise Neslihan Onenli Mungan
Summary: Gaucher disease type 2 is a rare and rapidly progressive form of the disease, characterized by acute neurological involvement. Early diagnosis and genetic counseling are crucial for prevention and management of the disease.
METABOLIC BRAIN DISEASE
(2022)
Article
Obstetrics & Gynecology
Hatice S. Y. Comert, Sebnem Kader, Mehmet A. Osmanagaoglu, Dilan A. Ural, Omer F. Yasar, Mustafa Imamoglu, Mehmet Mutlu, Haluk Sarihan
Summary: This study retrospectively analyzed 60 cases of NIHF with intrauterine pleural effusion, and found a high risk of fetal and neonatal death in these cases. Extreme prematurity was identified as a negative factor affecting lung and heart development, leading to postnatal mortality. Therefore, close obstetric follow-up and a multidisciplinary approach are necessary for selecting appropriate management strategies for these cases.
AMERICAN JOURNAL OF PERINATOLOGY
(2022)
Article
Pediatrics
Srabani Bharadwaj, Charmaine Chan, Jonathan Choo Tze Liang, Sarat Kumar Sanamandra, Marielle Valerie Fortier, Ai Ling Koh, Sreekanthan Sundararaghavan
Summary: We report a rare case of a newborn with non-immune fetal hydrops and arterial tortuosity mimicking a double aortic arch, as well as cranial fractures. The infant did not have classic features of neonatal arterial tortuosity syndrome or Loeys Dietz syndrome, but had bilateral inguinal hernia and fractures during the neonatal period. A heterozygous missense variant of uncertain significance was detected in the MYH11 gene, which may be associated with this condition.
FRONTIERS IN PEDIATRICS
(2022)
Article
Medical Laboratory Technology
Syrine Hizem, Yasmina Elaribi, Sana Ben Slama, Kawther Dimassi, Houweyda Jilani, Imen Rejeb, Molka Sebai, Soumeya Bekri, Lamia Ben Jemaa
Summary: Non-Immune Hydrops Fetalis (NIHF) is an intrauterine condition with poor prognosis and a wide etiological spectrum, with Mucopolysaccharidosis type VII being the most common metabolic cause. It is an ultra-rare disorder, often misdiagnosed due to the elusive underlying etiology. The report describes the first Tunisian case of Mucopolysaccharidosis type VII caused by a homozygous mutation in the GUSB gene in a patient with recurrent NIHF.
CLINICA CHIMICA ACTA
(2021)
Article
Genetics & Heredity
Wafaa N. Al Rawi, Fatima H. Ibrahim, Omar A. S. El Nakeib, Faisal M. Al Zidgali
Summary: This case report presents the first biallelic variant of the THSD1 gene in a 25-week extremely premature infant with manifestations of NIHF, congenital heart disease, and hemangiomas. The patient's prematurity was complicated by pulmonary hypertension and chronic lung disease. This case suggests that biallelic homozygous variants of THSD1 may be among the potential causes of NIHF and provides valuable information for determining the prognosis of NIHF caused by such variants in premature infants.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2021)
Article
Obstetrics & Gynecology
Zhenyan Han, Xiaodan Chen, Qingqing Wang, Jin Zhou, Yan Guo, Hongying Hou, Yuan Zhang
Summary: Mirror syndrome is relatively common among cases of fetal hydrops, with alpha thalassemia major being the main etiology. This syndrome can lead to serious maternal health complications, including high maternal morbidity and other physiological changes.
BMC PREGNANCY AND CHILDBIRTH
(2021)
Article
Acoustics
Keooudone Thammavong, Suchaya Luewan, Chanane Wanapirak, Theera Tongsong
Summary: Insights gained from this review suggest that ultrasound is highly effective in early detection of fetal Hb Bart disease, with parameters such as the cardiac diameter-to-thoracic diameter ratio, middle cerebral artery peak systolic velocity, and placental thickness being sensitive predictors. Other ultrasound markers, including hepatosplenomegaly, can increase specificity in diagnosis. Management guidelines for fetuses at risk have also been proposed.
JOURNAL OF ULTRASOUND IN MEDICINE
(2021)
Article
Genetics & Heredity
Carlos R. Ferreira, Wadih M. Zein, Laryssa A. Huryn, Andrea Merker, Seth I. Berger, William G. Wilson, George E. Tiller, Lynne A. Wolfe, Melissa Merideth, Daniel R. Carvalho, Angela L. Duker, Heiko Bratke, Marte Gjol Haug, Luis Rohena, Hanne B. Hove, Zhi-Jie Xia, Bobby G. Ng, Hudson H. Freeze, Melissa Gabriel, Alvaro H. Serrano Russi, Lauren Brick, Mariya Kozenko, Dawn L. Earl, Emma Tham, Gen Nishimura, John A. Phillips, William A. Gahl, Rizwan Hamid, Andrew P. Jackson, Giedre Grigelioniene, Michael B. Bober
GENETICS IN MEDICINE
(2020)
Article
Oncology
Sulgi Lee, Madhuri Kambhampati, M. Isabel Almira-Suarez, Cheng-Ying Ho, Eshini Panditharatna, Seth Berger, Joyce Turner, David Van Mater, Lindsay Kilburn, Roger J. Packer, John S. Myseros, Eric Vilain, Javad Nazarian, Miriam Bornhorst
FRONTIERS IN ONCOLOGY
(2020)
Article
Genetics & Heredity
Natasha Shur, Shireen M. Atabaki, Monisha S. Kisling, Abir Tabarani, Clarence Williams, Jamie L. Fraser, Debra S. Regier, Marshall Summar
Summary: Telemedicine has played a crucial role in the current COVID-19 pandemic, emphasizing the importance of safe and effective patient care. The program, focusing on patient's homes, aimed to increase access to care, reduce missed work, and improve scheduling by conducting visits through physician medical geneticists, genetic counselors, and biochemical dietitians. This pilot-program successfully optimized patient safety and workforce preservation, providing full access to patients during the pandemic and proving the effectiveness and value of telemedicine for a complex medical population.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2021)
Review
Genetics & Heredity
Andrea M. Quinn, Breanna N. Valcarcel, Mona M. Makhamreh, Huda B. Al-Kouatly, Seth I. Berger
Summary: Hydrops fetalis (HF) is a life-threatening condition caused by fluid accumulation in fetal compartments, with genetic causes including chromosomal and monogenic disorders. Current clinical workup often does not fully evaluate genetic targets, leading to a need for broader molecular testing. Research identifies numerous genes associated with nonimmune HF, some with emerging evidence, suggesting potential treatment implications. Broad sequencing approaches like exome sequencing may be useful in improving clinical management of HF.
GENETICS IN MEDICINE
(2021)
Article
Cardiac & Cardiovascular Systems
Ekanem N. Ekure, Adebowale Adeyemo, Hanhan Liu, Ogochukwu Sokunbi, Nnenna Kalu, Ariel F. Martinez, Babajide Owosela, Cedrik Tekendo-Ngongang, Yonit A. Addissie, Akinsanya Olusegun-Joseph, Desmond Ikebudu, Seth Berger, Maximilian Muenke, Zhe Han, Paul Kruszka
Summary: This study identified novel candidate genes and variants for CHD through exome sequencing, facilitating comparisons with previous studies in predominantly European cohorts. It represents an important first step in genomic studies of CHD in understudied populations.
CIRCULATION-GENOMIC AND PRECISION MEDICINE
(2021)
Article
Genetics & Heredity
Huda B. Al-Kouatly, Mona M. Makhamreh, Stephanie M. Rice, Kelsey Smith, Christopher Harman, Andrea Quinn, Breanna N. Valcarcel, Brandy Firman, Ruby Liu, Madhuri Hegde, Elizabeth Critchlow, Seth I. Berger
Summary: Testing with prenatal exome sequencing (ES) for nonimmune hydrops fetalis (NIHF) after negative standard workup can yield 50% diagnostic results and may provide crucial information for postnatal prognosis and future pregnancies.
GENETICS IN MEDICINE
(2021)
Article
Genetics & Heredity
Sebastien Kury, Frederic Ebstein, Alice Molle, Thomas Besnard, Ming-Kang Lee, Virginie Vignard, Tiphaine Hery, Mathilde Nizon, Grazia M. S. Mancini, Jacques C. Giltay, Benjamin Cogne, Kirsty McWalter, Wallid Deb, Hagar Mor-Shaked, Hong Li, Rhonda E. Schnur, Ingrid M. Wentzensen, Anne-Sophie Denomme-Pichon, Cynthia Fourgeux, Frans W. Verheijen, Eva Faurie, Rachel Schot, Cathy A. Stevens, Daphne J. Smits, Eileen Barr, Ruth Sheffer, Jonathan A. Bernstein, Chandler L. Stimach, Eliana Kovitch, Vandana Shashi, Kelly Schoch, Whitney Smith, Richard H. van Jaarsveld, Anna C. E. Hurst, Kirstin Smith, Evan H. Baugh, Suzanne G. Bohm, Emilie Vyhnalkova, Lukas Ryba, Capucine Delnatte, Juanita Neira, Dominique Bonneau, Annick Toutain, Jill A. Rosenfeld, Severine Audebert-Bellanger, Brigitte Gilbert-Dussardier, Sylvie Odent, Frederic Laumonnier, Seth Berger, Ann C. M. Smith, Franck Bourdeaut, Marc-Henri Stern, Richard Redon, Elke Krueger, Raphael Margueron, Stephane Bezieau, Jeremie Poschmann, Bertrand Isidor
Summary: This study reports on a rare syndromic neurodevelopmental disorder caused by rare germline missense BAP1 variants, and provides evidence that these variants alter chromatin remodeling and transcriptional dysregulation of developmental genes.
AMERICAN JOURNAL OF HUMAN GENETICS
(2022)
Review
Obstetrics & Gynecology
Rebecca Horgan, Julia A. Youssef, Ariel T. Levy, Seth Berger, Sophie Dreux, Maria L. Brizot, Alison Boutall, Alfred Z. Abuhamad, Ana M. Angarita, Huda B. Al-Kouatly
Summary: Isolated fetal ascites has diverse etiologies, with survival rates related to the underlying cause. In most cases, fetal ascites does not progress to fetal hydrops.
OBSTETRICS AND GYNECOLOGY
(2021)
Article
Pediatrics
Seth I. Berger, Ilana Miller, Laura Tochen
Summary: This study reported a case of a child who initially had negative results on whole exome sequencing, but further evaluation and analysis led to a diagnosis of treatable DOPA-responsive dystonia. It highlights the importance of careful review of uncertain variants and consideration of the clinical context during exome sequencing.
Article
Cell & Tissue Engineering
Christoph Schaniel, Priyanka Dhanan, Bin Hu, Yuguang Xiong, Teeya Raghunandan, David M. Gonzalez, Rafael Dariolli, Sunita L. D'Souza, Arjun S. Yadaw, Jens Hansen, Gomathi Jayaraman, Bino Mathew, Moara Machado, Seth I. Berger, Joseph Tripodi, Vesna Najfeld, Jalaj Garg, Marc Miller, Colleen S. Surlyn, Katherine C. Michelis, Neelima C. Tangirala, Himali Weerahandi, David C. Thomas, Kristin G. Beaumont, Robert Sebra, Milind Mahajan, Eric Schadt, Dusica Vidovic, Stephan C. Schurer, Joseph Goldfarb, Evren U. Azeloglu, Marc R. Birtwistle, Eric A. Sobie, Jason C. Kovacic, Nicole C. Dubois, Ravi Iyengar
Summary: The library of hiPSC lines from clinically healthy human subjects is a valuable resource for various studies on human biology. These hiPSC lines are well-characterized, gender-balanced, and racially/ethnically diverse, ranging in age from 22 to 61 years. The extensive characterization of the hiPSC lines includes whole-genome sequencing data, genomic ancestry determination, and analysis of mendelian disease genes and risks.
Article
Obstetrics & Gynecology
Laura Felder, Connie D. Cao, Casey Konys, Nimali Weerasooriya, Rebecca Mercier, Vincenzo Berghella, Sandra Dayaratna
Summary: This study assessed the efficacy of an enhanced recovery after surgery (ERAS) protocol in postcesarean pain management and found that it reduces opioid use and improves some racial disparities.
AMERICAN JOURNAL OF PERINATOLOGY
(2022)
Article
Genetics & Heredity
Charles J. Billington, Kimberly A. Chapman, Eyby Leon, Beatrix W. Meltzer, Seth Berger, Matthew Olson, Robert A. Figler, Steve A. Hoang, Cui Wanxing, Brian R. Wamhoff, M. Sol Collado, Kristina Cusmano-Ozog
Summary: Maple syrup urine disease (MSUD) is a genetic metabolic disorder characterized by hyperleucinemia, brain swelling, and death. In this case series, patients with MSUD caused by DBT gene mutations were studied. These mutations led to decreased protein production and accumulation of branched-chain amino acids and alpha-ketoacids. The patients presented with classical MSUD with neonatal onset and were all from families who immigrated from Honduras or El Salvador.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2022)
Article
Endocrinology & Metabolism
Megan Raymond, Elizabeth Critchlow, Stephanie M. Rice, Sascha Wodoslawsky, Seth I. Berger, Madhuri Hegde, Philip E. Empey, Huda B. Al-Kouatly
Summary: This study assessed parental desire for PGx testing and found that the majority of parents were interested in receiving PGx results. Furthermore, it revealed that 89% of the tested individuals had actionable PGx variants. The feasibility of obtaining fetal PGx data for medically complex neonates was also demonstrated.
MOLECULAR GENETICS AND METABOLISM
(2022)
Review
Obstetrics & Gynecology
Laura Felder, Melissa Riegel, Johanna Quist-Nelson, Vincenzo Berghella
Summary: The study aimed to evaluate the efficacy of perioperative intravenous acetaminophen in improving postcesarean pain control in healthy women receiving regional anesthesia. The results showed that the use of acetaminophen did not have a significant impact on postoperative pain control in cesarean delivery, indicating a need for more high-level evidence to support its use.
AMERICAN JOURNAL OF OBSTETRICS & GYNECOLOGY MFM
(2021)
Meeting Abstract
Obstetrics & Gynecology
Huda B. Al-Kouatly, Mona M. Makhamreh, Stephanie M. Rice, Kelsey Smith, Christopher Harman, Andrea Quinn, Breanna Valcarcel, Brandy Firman, Ruby Liu, Madhuri Hedge, Elizabeth Critchlow, Seth I. Berger
AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY
(2021)
