Results 31 to 40 of about 12,084,964 (131)
Pregnancy, Volume 2, Issue 2, March 2026.Abstract Non‐immune hydrops fetalis (NIHF) can result from a multitude of underlying causes, such as fetal genetic diseases, congenital anomalies, infections, fetal arrhythmias, placental tumors, monochorionic twin complications, and other disorders.
Society for Maternal‐Fetal Medicine (SMFM) +3 more
wiley +1 more source
Sultan Qaboos University Medical Journal, 2013 Objectives: Thanatophoric dysplasia (TD) is the most common form of lethal skeletal dysplasia. It is primarily an autosomal dominant disorder and is characterised by macrocephaly, a narrow thorax, short ribs, brachydactyly, and hypotonia.
Renate Marquis-Nicholson +2 more
doaj
Genetically-determined familial recurrent thanatophoric dysplasia [PDF]
, 1970 Summary Thanatophoric dysplasia was first described in 1967 by Maroteaux. It is one of the most common lethal neonatal dwarfisms. Estimated incidence of thanatophoric dysplasia is 0.2-0.5 per 10000 births.
Szułczyński, Jarosław +6 more
core
Evaluating pregnancy termination rates for fetal chromosome and single gene disorders
Journal of Genetic Counseling, Volume 34, Issue 4, August 2025.Abstract We report pregnancy termination rates following a variety of fetal diagnoses and determine which factors may influence this decision. We conducted a retrospective chart review of pregnancies diagnosed with a genetic abnormality at a single institution from January 2012 to April 2023.
Madeline J. Herman +5 more
wiley +1 more source
Thanatophoric dysplasia: a rare entity [PDF]
, 2016 Thanatophoric dysplasia (TD), a rare and lethal skeletal dysplasia of neonatal period. Two clinical forms of Thanatophoric dysplasia have been described.
Arya, Sangeeta +3 more
core
Epidermal Nevi and Epidermal Naevus Syndromes
JEADV Clinical Practice, Volume 4, Issue 3, Page 669-680, August 2025.ABSTRACT Epidermal nevi (EN) arise from postzygotic variants in ectoderm‐derived cell lines, such as keratinocytes and cells forming adnexa. EN may be present alone without any associated abnormality or be part of a syndrome. In this review, we will discuss about the clinical and genetics of the main types of EN and related syndromes.
Gianluca Tadini +2 more
wiley +1 more source
Thanatophoric dysplasia Type 1: A rare case of recurrence [PDF]
, 2015 Thanatophoric dysplasia (TD) is the most common form of lethal dysplasias. The prevalence is low 1/20000-1/40000. Newborns with TD died within the neonatal period. Early diagnosis is of prime importance to terminate the pregnancy in time.
Pahariya, Richa +3 more
core +1 more source
Prenatal multidisciplinary counseling for fetal congenital anomalies: A narrative review
International Journal of Gynecology &Obstetrics, Volume 169, Issue 2, Page 498-510, May 2025.Abstract Introduction Prenatal multidisciplinary counseling for fetuses with congenital anomalies involves a collaborative approach, integrating expertise from various medical fields. Aims and Approach This comprehensive strategy aims to provide expectant parents with accurate information about the diagnosis, potential outcomes, and available ...
Licia Lugli +10 more
wiley +1 more source
Sequential prenatal diagnosis of fetal skeletal dysplasia: A cohort study
Acta Obstetricia et Gynecologica Scandinavica, Volume 104, Issue 5, Page 860-874, May 2025.Of the 147 SD fetuses, 58 cases with negative CMA results underwent WES, and 21 genes with pathogenic/likely pathogenic variants were detected in 21 cases, including FGFR3 (n = 11), COL1A1 (n = 2), COL1A2 (n = 1), RUNX2 (n = 1), COL2A1 (n = 1), LMX1B (n = 1), GLI3 (n = 1), DYNC2H1 (n = 1), ALPL (n = 1), and SHOX (n = 1).
Mengting Jiang +5 more
wiley +1 more source
Journal of Genetic Counseling, Volume 34, Issue 2, April 2025.Abstract This study sought to quantify uptake rates of non‐invasive prenatal screening for de novo single‐gene disorders (NIPS‐SGD) in pregnant subjects whose reproductive partner is of advanced paternal age (APA) and to determine individual parameters associated with higher test uptake rates.
Kylie Katz +6 more
wiley +1 more source