Cell-Based NIPT Detects 47,XXY Genotype in a Twin Pregnancy

Autor: Line Dahl Jeppesen, Tina Duelund Hjortshøj, Johnny Hindkjær, Lotte Hatt, Olav Bjørn Petersen, Ripudaman Singh, Palle Schelde, Lotte Andreasen, Rikke Christensen, Dorte L. Lildballe, Ida Vogel

Publikováno v: Frontiers in Genetics, Vol 13 (2022)

Background: The existing risk of procedure-related miscarriage following invasive sampling for prenatal diagnosis is higher for twin pregnancies and some women are reluctant to test these typically difficultly obtained pregnancies invasively. Therefo

Externí odkaz: https://doaj.org/article/6d8ecfc0f11141ca99712dbd0659adde

Non-Invasive Prenatal Screening: The First Report of Pentasomy X Detected by Plasma Cell-Free DNA and Karyotype Analysis

Autor: Luigia De Falco, Teresa Suero, Giovanni Savarese, Pasquale Savarese, Raffaella Ruggiero, Antonella Di Carlo, Mariasole Bruno, Nadia Petrillo, Monica Ianniello, Ciro Scarpato, Camilla Sarli, Antonio Fico

Publikováno v: Diagnostics, Vol 12, Iss 7, p 1591 (2022)

Pentasomy X is a sex chromosome anomaly caused by the presence of three extra X chromosomes in females (49,XXXXX instead of 46,XX) and is probably due to a nondisjunction during the meiosis. So far, only five cases prenatally diagnosed were described

Externí odkaz: https://doaj.org/article/db635fb152ee43f09f827ddbe716a670

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Lack of consensus in the choice of termination of pregnancy for Turner syndrome in France

Autor: Vassilis Tsatsaris, Sophie Brisset, Monika Hermann, Alexandra Benachi, Claire Bouvattier, Olivia Anselem, Babak Khoshnood, Aurélie Coussement

Publikováno v: BMC Health Services Research
BMC Health Services Research, BioMed Central, 2019, 19 (1), pp.994. ⟨10.1186/s12913-019-4833-3⟩
BMC Health Services Research, Vol 19, Iss 1, Pp 1-9 (2019)

BackgroundThe observed rate of termination of pregnancy (TOP) for Turner syndrome varies worldwide and even within countries. In this vignette study we quantified agreement among ten multidisciplinary prenatal diagnosis centers in Paris.MethodsWe sub

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fc25e51e431c25fa9757fa75418ae526
https://doi.org/10.1186/s12913-019-4833-3

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