A case report of Turner syndrome associated with fetal nuchal cystic hygroma and bilateral syndactyly of the hands and feet

ConclusionsWe investigated an unusual case of severe septated nuchal cystic hygroma associated with bilateral syndactyly of the fingers and toes in a stillborn infant with Turner syndrome. Although cystic hygroma has been frequently reported in 45,X the severity is marked in this case. In addition, syndactyly is not a typical complication of Turner syndrome. This case emphasizes the importance of early ultrasound in pregnancy.
Source: Italian Journal of Pediatrics - Category: Pediatrics Source Type: research

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In this study, we compared the types of congenital heart malformation, accompanying diseases and fetal outcomes in the first and second trimesters of pregnancy to clarify the advantage of early screening. From January 2013 to June 2018, 230 fetuses were diagnosed with congenital heart malformations using ultrasound method in Qilu Hospital of Shandong University, and divided into 2 groups:the first trimester fetuses (group A) and the second trimester fetuses (group B). In addition, we collected and organized medical data of 347 cases diagnosed with congenital heart disease during 1998 to 2005 (group C). We compared the s...
Source: Medicine - Category: Internal Medicine Tags: Research Article: Observational Study Source Type: research
In this issue of Fertility and Sterility, the Fertile Battle debate focuses on the question of how best to counsel patients with Turner Syndrome (TS) regarding their options for pregnancy. Most patients with TS experience ovarian failure prior to menarche, but with egg donation, they can successfully conceive and carry the pregnancy to term, albeit with significantly increased obstetrical risks. The question is, are these risks so high that gestational surrogacy should routinely be advised? Are the risks so high that embryo transfer to the uterus of a TS patient should not even be considered? Are there screening methods th...
Source: Fertility and Sterility - Category: Reproduction Medicine Authors: Tags: Fertile battle: introduction Source Type: research
ConclusionThis study bring out obstetrical complications of the same magnitude than the ones described in the literature. Lead over a period of 4 years, in 10 French oocyte donation centers, it doesn’t reveal any cardio-vascular complications, conversely to other studies published before French and American recommendations. This study reinforces the usefulness of specific recommendations for the care of these particular patients.
Source: European Journal of Obstetrics and Gynecology and Reproductive Biology - Category: OBGYN Source Type: research
The objective of this study is to describe patients with Turner syndrome (TS) who had spontaneous pregnancy and, when possible, to present the frequency of this outcome in this genetic condition. This is a literature review conducted in MedLine/PubMed, using the following English descriptors: Turner syndrome and spontaneous pregnancy. The following filters have been activated: articles with a publication date from the last 10 years that present the descriptors in the title/abstract. Twenty-nine articles were identified using the electronic search. After applying the inclusion and exclusion criteria, the number of articles ...
Source: Jornal Brasileiro de Patologia e Medicina Laboratorial - Category: Pathology Source Type: research
Publication date: November 2018Source: Revista Portuguesa de Cardiologia (English Edition), Volume 37, Issue 11Author(s): Ruth Alvarez, María Luisa Rodríguez, María Martín
Source: Revista Portuguesa de Cardiologia - Category: Cardiology Source Type: research
Discussion Intrauterine growth retardation or fetal growth retardation is due to a pathological process that causes decelerated fetal growth velocity. Small-for-gestational age (SGA) is an infant with growth parameters below the normal range for gestational age. More commonly, SGA is defined as a birth weight
Source: PediatricEducation.org - Category: Pediatrics Authors: Tags: Uncategorized Source Type: news
Abstract Ovarian dysgenesis, short stature, and infertility are common features of Turner syndrome (TS). Endocrinopathies and cardiopathies are less common, but may induce significant complications, and are the leading cause of mortality in TS patients. Endocrine abnormality including osteoporosis occurs in up to 60% of patients, hypothyroidism at an incidence of 3.2%, and impaired glucose metabolism with variable incidence depending on the age group. Estrogen therapy and growth hormone therapy, alone or combined, improve height and bone mass in TS patients. Autoimmune hypothyroidism is prone in the X-isochromosom...
Source: Climacteric - Category: Geriatrics Authors: Tags: Climacteric Source Type: research
CONCLUSION:  Incorporation of a detailed fetal anomaly scan (FA) into first-trimester screening algorithms can improve the detection rates for trisomy 18 and 13, triploidy and Turner syndrome. PMID: 30241105 [PubMed - as supplied by publisher]
Source: Ultraschall in der Medizin - Category: Radiology Authors: Tags: Ultraschall Med Source Type: research
This study aimed to assess the application of the French guidelines for pregnancies in Turner syndrome (TS) and their impact on perinatal prognosis.Study designWe performed a French multi-center retrospective study (14 centers), including TS pregnant patients (spontaneously or by Assisted Reproductive Technology (ART)) between January 2006 and July 2017.Only clinical pregnancies were analyzed. The adjustment of medical follow-up modalities to French guidelines was evaluated for all pregnancies after 2009. Pregnancies from oocyte donation (OD) after 2009 were compared to those of a cohort of TS pregnancies obtained by OD be...
Source: European Journal of Obstetrics and Gynecology and Reproductive Biology - Category: OBGYN Source Type: research
CONCLUSIONS: Although the main cause of megacystis is LUTO, an enlarged fetal bladder can also be present as corollary finding of miscellaneous genetic syndromes, developmental disturbances and chromosomal abnormalities. This study provides an overview of the structural anomalies and congenital disorders associated with megacystis and proposes a flowchart for the differential diagnosis of genetic syndromes, chromosomal and developmental abnormalities, focusing on the morphological examination of the fetus. This article is protected by copyright. All rights reserved. PMID: 30043466 [PubMed - as supplied by publisher]
Source: The Ultrasound Review of Obstetrics and Gynecology - Category: Radiology Authors: Tags: Ultrasound Obstet Gynecol Source Type: research
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