Hydrops in first trimester as unreported prenatal finding of dyssegmental dysplasia confirmed by exome sequencing

Abstract

Letters to the Editor Hydrops in first trimester as unreported prenatal finding of dyssegmental dysplasia confirmed by exome sequencingOf note, the homozygous HSPG2 mutation detected may imply a founder effect in the Taiwanese population, which we noted previously in several monogenic diseases such as autosomal recessive renal tubular dysgenesis, osteogenesis imperfecta Type IX and aromatic L-amino acid decarboxylase deficiency 6 .

Fetal ascites in third trimester as novel prenatal finding in Bardet–Biedl syndrome and subsequent unaffected live birth assisted by preimplantation genetic diagnosis

“…We also showed that the application of WES facilitated identification of the genetic defect underlying this heterogeneous disorder. Identification of the rare BBS2 variant in homozygous status may imply a founder effect, as we noted previously in several monogenic diseases 4 . Finally, we showed that a subsequent unaffected live birth can be achieved after PGD when parents are heterozygous carriers of the BBS2 variant.…”

Molecular Approaches in Fetal Malformations, Dynamic Anomalies and Soft Markers: Diagnostic Rates and Challenges—Systematic Review of the Literature and Meta-Analysis

“…For the quantitative analysis, 40 articles [121, were secondarily excluded. Of these, three papers focused on fetal demises or stillbirths [256][257][258], three papers focused on information postmortem [242,250,254], three were case reports [238,246,252], five focused on a single specific phenotype [240,241,248,261,274], three presented inhomogeneity in inclusion criteria and chromosomal anomalies/CNV assessment [239,251,262], six included both fetuses and postnatal cases [244,249,253,259,260,269], three focused on candidate genes [243,247,263], three focused on recurrent phenotypes or previously described cohorts [245,255,272], five were excluded for the lack of inclusion or eligibility criteria [264,265,268,271,276], two were excluded for the higher a priori risk for consanguinity and recurrence [266,270], one because parents were tested for recessive disorders [267], two because they focused on gene panels [273,275], and one due to the postnatal diagnosis [121].…”

Enhancement of phenotyping for fetal investigation using next‐generation sequencing

“…In the first trimester, a greatly increased nuchal translucency thickness (> 6.5 mm) or abnormality of the nuchal lymphatics raises the possibility of a genetic disease. When NGS is applied to this group, there is a relatively large diagnostic yield, with most identified disorders being in the RASopathy category [19][20][21] , and it has been postulated that such findings are a prelude to the development of non-immune fetal hydrops [22][23][24] . Other investigators have examined prospectively combined cohorts of prenatal cases, finding that the diagnostic yield is increased only in fetuses with both a large nuchal translucency and associated structural anomalies in the first trimester (22% diagnostic yield of pathogenic, causative variants) or in those that develop anomalies later in gestation (32%) (vs 1.8% in those with increased nuchal translucency that remains isolated) 25 .…”