Genetic aspects of nonimmune hydrops fetalis
Лечащий ВрачBackground. Nonimmune hydrops fetalis is a heterogeneous disorder characterized by generalized hyperhydration caused by extracellular accumulation of fluid in the tissues and serous cavities of the fetus, in the absence of signs of immune sensitization ...
H. A. Sarkisyan +9 more
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Prevalence and genotypes of α- and β-thalassemia carriers in Hong Kong - Implications for population screening [PDF]
, 1997 Background: The thalassemias are common in southern China. We determined the prevalence of heterozygous carriers of these genetic disorders in Hong Kong and assessed the feasibility of a community-based screening program.
Chan, LC +6 more
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An approach to familial lymphoedema. [PDF]
, 2017 Lymphoedema is the build-up of lymphatic fluid leading to swelling in the tissues. Most commonly it affects the peripheries. Diagnosis is based on clinical assessment and imaging with lymphoscintigraphy. Treatment is supportive with compression garments,
Atton +4 more
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Linkage and sequence analysis indicate that CCBE1 is mutated in recessively inherited generalised lymphatic dysplasia [PDF]
, 2010 Generalised lymphatic dysplasia (GLD) is characterised by extensive peripheral lymphoedema with visceral involvement. In some cases, it presents in utero with hydrops fetalis. Autosomal dominant and recessive inheritance has been reported.
Brice, G +11 more
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Parental Decision‐Making Following a Prenatal Diagnosis of Turner Syndrome: A Systematic Review
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT This systematic review investigates factors influencing parental decision‐making following a prenatal diagnosis (PND) of Turner syndrome (TS), aiming to enhance the foundation for tailored and supportive genetic counseling. A comprehensive literature search was conducted in the medical databases PubMed, Embase, and CINAHL.
Inger Lily Hjuler Dorf +2 more
wiley +1 more source
Novel mutation in CCBE 1 as a cause of recurrent hydrops fetalis from Hennekam lymphangiectasia-lymphedema syndrome-1. [PDF]
, 2018 Whole exome sequencing (WES) was used to determine the etiology of recurrent hydrops fetalis in this case of Hennekam lymphangiectasia-lymphedema syndrome-1.
Andreasen, Tara S +7 more
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The efficacy of flecainide versus digoxin in the management of fetal supraventricular tachycardia [PDF]
, 1995 Fetal supraventricular tachycardia (SVT) can be successfully treated transplacentally, but in cases where fetal hydrops develops there is considerable morbidity and mortality.
Frohn-Mulder, I.M.E. (Ingrid) +5 more
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Termination of pregnancy for medical indications: A 14‐year analysis from a tertiary referral center
International Journal of Gynecology &Obstetrics, EarlyView.Abstract Objective This study aimed to evaluate the medical indications for termination of pregnancy, gestational age at termination, and methods used in our clinic. Methods This observational retrospective study included pregnancy terminations after 10 weeks of gestation for medical indications between 2010 and 2024.
Yasemin Dogan +5 more
wiley +1 more source
Frontiers in Pediatrics, 2023 BackgroundHemolytic disease of the fetus and newborn (HDFN) due to red cell alloimmunization, is an important cause of fetal and neonatal morbidity and mortality.
Wenxu Pan +7 more
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Rh Negative Status and Isoimmunization Update: A Case-Based Approach to Care [PDF]
, 2003 Prior to the 1970s and the advent of Rho (D) immune globulin (RIG) for Rh negative women, hemolytic disease of the newborn led to morbidity, long-term disabilities, and mortality.
Hanson, Lisa +3 more
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