Results 211 to 220 of about 423,772 (336)

Prenatal diagnosis of retrorenal left-sided inferior vena cava without hepatic segment using ultrasound and spatiotemporal image correlation: a rare case description. [PDF]

Quant Imaging Med Surg
Jia P, Wang Y, Zhang M, Feng X, Cheng X, Ma B.   +5 more
europepmc   +1 more source

Grandmaternal Obesity and Risks of Birth Asphyxia‐Related Complications in Grand‐Offspring: A Countrywide Three‐Generation Study

Obesity, EarlyView.
ABSTRACT Objective We investigated the associations of grandmaternal early pregnancy BMI with grand‐offspring risks of birth asphyxia‐related complications. Methods In a nationwide three‐generation Swedish cohort, we estimated adjusted relative risks (RRs) of Apgar score 0–3 at 5 min and neonatal seizures for categories of grandmaternal BMI among 315 ...
Eduardo Villamor, Amanda K. Miglin, Sven Cnattingius   +2 more
wiley   +1 more source

Breast Findings in Females With Beckwith–Wiedemann Syndrome

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Beckwith–Wiedemann syndrome (BWS) is an overgrowth condition caused by epigenetic defects on chromosome 11p15. Children with BWS have a predisposition to embryonal tumors such as Wilms tumor and hepatoblastoma. However, few reports of breast tumors in females with BWS have been published and the risk of malignancy and need for screening ...
Liron D. Grossmann, Andrew M. George, Tom Lapidus, Cassandra Ligh, Suzanne P. MacFarland, Jennifer M. Kalish   +5 more
wiley   +1 more source

Heterozygous Beta‐Thalassaemia in Pregnancy: Two Rare Causes of Severe Fetal Anemia Requiring Intrauterine Blood Transfusions

Prenatal Diagnosis, EarlyView.
ABSTRACT Aim In this article, we present two cases of severe fetal hemolytic anemia based on a beta‐thalassaemia trait inherited from a single parent. Results These cases, presented at 20 and 28 weeks' gestation, necessitated intra‐uterine blood transfusions.
Eva van der Meij, Frans J. W. Smiers, Tamara T. Koopmann, Ingrid Krapels, Kaatje LePoole, Enrico Lopriore, Johanna M. Middeldorp, Claudia S. Ootjers, Volkher Scharnhorst, Hubertina C. J. Scheepers, Cornelis L. Harteveld, E. J. T. (Joanne) Verweij   +11 more
wiley   +1 more source

Genetic Diagnosis and Clinical Features of Fetuses With Congenital Diaphragmatic Hernia

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Congenital diaphragmatic hernia (CDH) is a rare abnormality with highly heterogeneous genetic causes. This study investigated chromosomal and monogenic abnormalities in fetal CDH patients and evaluated the efficacy of chromosomal microarray analysis (CMA) and whole‐exome sequencing (WES) for genetic diagnosis.
Yan Lü, Yi Yu, Jiazhen Chang, Mengmeng Li, Xueting Yang, Xiya Zhou, Na Hao, Hua Meng, Zhenghong Li, Lishuang Ma, Hui You, Shan Jian, Ying Wang, Shengjie Li, Yiqing Yu, Kaili Yin, Mingming Wang, Yulin Jiang, Qingwei Qi   +18 more
wiley   +1 more source

Prenatal Exome Sequencing Identifies Dual Maternal‐Fetal Diagnosis of HbF Mission Bay, a Novel HBG2 Variant Associated With Methemoglobinemia, Hypoxia and Hemolytic Anemia

Prenatal Diagnosis, EarlyView.
ABSTRACT Prenatal exome sequencing (ES) can establish rare genetic diagnoses in a fetus but may also lead to occult genetic diagnosis in a biological parent. We present a case of dual fetal and maternal diagnosis by prenatal ES, in a fetus with unexplained anemia and in a pregnant patient with sickle cell disease (SCD) and recurrent unexplained hypoxia.
Matthew A. Shear, Billie Lianoglou, Ugur Hodoglugil, W. Patrick Devine, Ashutosh Lal, Juan Gonzalez, Teresa N. Sparks   +6 more
wiley   +1 more source

Whole Genome Sequencing in Prenatal Diagnostics: The Danish Approach to Guideline Formation and Implementation Within Public Healthcare

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To describe the implementation of whole genome sequencing (WGS) in prenatal diagnostics and outline the national guideline system facilitating this. Methods Clinical guidelines for WGS in prenatal diagnostics were developed and implemented by the Danish Fetal Medicine Society.
Ida Vogel, Lotte Andreasen, Marie Balslev‐Harder, Naja Becher, Anja Ernst, Kasper Gadsbøll, Tina Duelund Hjortshøj, Marie Skov Hvidbjerg, Martin Larsen, Stina Lou, Ida Charlotte Bay Lund, Lars Henning Pedersen, Laura Kirstine Sønderberg Roos, Lene Sperling, Lone Sunde, Pernille Mathiesen Tørring, Cathrine Vedel, Olav Bjørn Petersen   +17 more
wiley   +1 more source

Can an Animation Improve Parents' Knowledge and How Does It Compare to Written Information? Development and Survey Evaluation of an Animation for Parents About Prenatal Sequencing

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To develop and evaluate an animation for parents about prenatal sequencing. Methods A total of 428 participants who had been pregnant, or whose partner had been pregnant, in the past 24 months. Parents, patient organisation representatives and clinicians co‐designed the animation describing prenatal sequencing (pS). Participants were
Morgan Daniel, Hannah McInnes‐Dean, Wing Han Wu, Jane Fisher, Caroline Lafarge, Kerry Leeson‐Beevers, Celine Lewis, Sophie Peet, Dagmar Tapon, Sarah L. Wynn, Lyn S. Chitty, Melissa Hill, Michelle Peter   +12 more
wiley   +1 more source

Hemophilia A: An Ideal Disease for Prenatal Therapy

Prenatal Diagnosis, EarlyView.
ABSTRACT Hemophilia A (HA) is the most common inherited coagulation defect. Current state‐of‐the‐art treatment consists of frequent administration of prophylactic infusions of coagulation factor VIII (FVIII) protein or bispecific antibodies that replace the cofactor function of FVIIIa to maintain hemostasis. However, these treatments are far from ideal,
Christopher D. Porada, Anthony Atala, Graça Almeida‐Porada   +2 more
wiley   +1 more source

Differential Pregnancy Decisions in a Woman With a Recurrent Prenatal Diagnosis of Hypophosphatasia. [PDF]

Cureus
Oguro T, Nagai R, Shimomoto Y.
europepmc   +1 more source