Results 51 to 60 of about 6,266 (199)

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

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

An update on amniotic bands sequence

Archivos Argentinos de Pediatria, 2018
Amniotic bands sequence is a congenital disorder characterized by craniofacial, body wall, and limb anomalies that may be associated with fetalplacental fibrous bands. Its prevalence has been reported to range from 0.19 to 8.1 per 10 000 births. Different theories have attempted to explain the etiology of amniotic band sequence; however, none has ...
Eunice, López-Muñoz, Luis E, Becerra-Solano   +1 more
openaire   +2 more sources

Effect of Amniotic Fluid in Treatment of Post-Laparatomy Adhesion Formation in Rat Model

مجله دانشکده پزشکی اصفهان, 2011
Background: Intraperitoneal adhesion is one of the most important complications after laparatomy and it may cause many problems for patients in long time such as infertility, bowel obstruction, and chronic pelvic pain.
Fatemeh Mostajeran, Maryam Manouchehri
doaj  

The Diagnosis and Prenatal Management of Non‐RHD Alloimmunizations

Prenatal Diagnosis, EarlyView.
ABSTRACT Red blood cell (RBC) alloimmunization remains a relevant cause of hemolytic disease of the fetus and newborn (HDFN). Although RhD immunization has significantly decreased since the implementation of systematic prophylaxis, it is still the main cause of alloimmunization in pregnancy.
Mar Bennasar, Antoni Borrell
wiley   +1 more source

Genetic Investigation in Fetal Growth Restriction: An Integrated Approach for Clinical Practice

Prenatal Diagnosis, EarlyView.
ABSTRACT International guidelines recommend genetic testing when fetal growth restriction (FGR) accompanies structural anomalies, but recommendations for apparently isolated FGR remain variable, particularly regarding gestational age thresholds and the role of exome sequencing (ES). Interpretation is difficult because studies define FGR inconsistently,
Eran Ashwal, David Chitayat
wiley   +1 more source

Integrated Molecular Autopsy in a Highly Consanguineous Perinatal Cohort With Severe Malformations and Strong Genetic Susceptibility

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate the diagnostic yield of integrated molecular autopsy (IMA) by combining deep post‐mortem phenotyping with exome (ES) and targeted genome sequencing (GS) for prenatally detected anomalies. Method This retrospective study evaluated 28 perinatal cases (22 fetuses, six neonates) with severe anomalies, normal first‐tier ...
Sihem Darouich, Samia Darouich, Ahmed Khemiri, Dorsaf Gtari, Raoudha Smiti, Ahmed Nhili, Houda Bellamine   +6 more
wiley   +1 more source

Non‐Invasive Prenatal Diagnosis of Haemoglobinopathies: From Concept to Clinical Reality

Prenatal Diagnosis, EarlyView.
ABSTRACT Haemoglobinopathies are the most prevalent monogenic disorders worldwide, contributing significantly to childhood morbidity and mortality. Preventive strategies, including carrier screening and prenatal diagnosis, have successfully reduced disease incidence in regions with established programmes.
Irene Leonidou, Leila Sallie, Morgan Jean Bell‐Ricketts, Alexandros Abdel Massih, Lisa Joy Kaiser, Ashley Hoi Kiu Wong, María Teresa Martín Monreal, Panicos Shangaris   +7 more
wiley   +1 more source

Prenatal ultrasound detection of fetal amniotic band ingestion in monochorionic diamniotic twin pregnancy: a rare case report

BMC Pregnancy and Childbirth
Background Amniotic Band Syndrome (ABS) is a rare congenital condition characterized by the formation of fibrous bands within the amniotic sac that can entangle and restrict fetal development, leading to various deformities. In this report, we present an
Somaye Shirazi Nejad, Maryam Roshan, Mohammad Saleh Jafarpishe, Peyman Hashemi, Mahdi Shahsavan, Mohammad Shahsavan   +5 more
doaj   +1 more source

Nail bed expansion: A new technique for correction of multiple isolated congenital micronychia

Advanced Biomedical Research, 2014
Congenital micronychia may involve big toes or may involve other nails. The etiology of micronychia is not clear but amniotic bands, teratogens (drugs, alcohol), Nail Patella Syndrome etc. A 44-year-old woman with multiple isolated congenital micronychia
Gholamhossein Ghaffarpour, Alireza Faghihi, Mohammadreza Ghasemi, Gelareh Ghaffarpour   +3 more
doaj   +1 more source