Results 71 to 80 of about 4,949 (165)

Pallister–Killian syndrome: Cytogenetics and molecular investigations of mosaic tetrasomy 12p in prenatal chorionic villus and in amniocytes. Strategy of prenatal diagnosis

Taiwanese Journal of Obstetrics & Gynecology, 2016
Objective: Pallister–Killian syndrome (PKS) is a rare, sporadic genetic disorder caused by mosaic tetrasomy of the short arm of chromosome 12 (12p).
Francesco Libotte, Domenico Bizzoco, Ivan Gabrielli, Alvaro Mesoraca, Pietro Cignini, Salvatore Giovanni Vitale, Ilaria Marilli, Ferdinando Antonio Gulino, Agnese Maria Chiara Rapisarda, Claudio Giorlandino   +9 more
doaj   +1 more source

Chorionic villus sampling. [PDF]

BMJ, 1991
openaire   +2 more sources

In Utero Transplantation of Placenta-Derived Mesenchymal Stromal Cells for Potential Fetal Treatment of Hemophilia A

Cell Transplantation, 2018
Hemophilia A (HA) is an X-linked recessive disorder caused by mutations in the factor VIII ( FVIII ) gene leading to deficient blood coagulation. The current standard of care is frequent infusions of plasma-derived FVIII or recombinant B-domain-deleted ...
Priyadarsini Kumar, Kewa Gao, Chuwang Wang, Christopher Pivetti, Lee Lankford, Diana Farmer, Aijun Wang   +6 more
doaj   +1 more source

Semi‐Automated Platform for Early Prenatal Coelocentesis Testing Using Electrospun Nanofiber Technology

Macromolecular Materials and Engineering
Prenatal diagnostics play a critical role in identifying fetal disease conditions, particularly rare genetic disorders that significantly contribute to infant morbidity and mortality.
Emanuela Muscolino, Anna Barbara Di Stefano, Santina Acuto, Clelia Dispenza   +3 more
doaj   +1 more source

Mosaic trisomy 5 in amniotic fluid in a live fetus with Ebstein anomaly and complete trisomy 5 in chorionic villus sampling. [PDF]

BMJ Case Rep, 2023
Andrade A, Cunha A, Teles N, Guedes-Martins L.   +3 more
europepmc   +1 more source

Foetal loss after chorionic villus sampling and amniocentesis in twin pregnancies: A multicentre retrospective cohort study. [PDF]

Prenat Diagn, 2022
Navaratnam K, Khairudin D, Chilton R, Sharp A, Attilakos G, Stott D, Relph S, Spencer R, Badr DA, Carlin A, Jani J, Kilby MD, Sebghati M, Khalil A, Alfirevic Z.   +14 more
europepmc   +1 more source

Prenatal diagnosis after high chance non-invasive prenatal testing for trisomies 21, 18 and 13, chorionic villus sampling or amniocentesis? - Experience at a district general hospital in the United Kingdom. [PDF]

Eur J Obstet Gynecol Reprod Biol X, 2023
Okoror CEM, Arora S.
europepmc   +1 more source

State-wide increase in prenatal diagnosis of klinefelter syndrome on amniocentesis and chorionic villus sampling: Impact of non-invasive prenatal testing for sex chromosome conditions. [PDF]

Prenat Diagn, 2023
Loughry L, Pynaker C, White M, Halliday J, Hui L.   +4 more
europepmc   +1 more source

Prenatal Diagnostic Procedures.

Journal of Health Science and Medical Research (JHSMR), 2010
Prenatal invasive procedures serve two purposes-diagnostic and therapeutic. In diagnostic tests, the aim is to identify structural or functional abnormalities of the embryo or fetus in utero.
Tharangrat Hanprasertpong
doaj  

A case of cystic hygroma with confined placental mosaicism of tetraploidy leading to noonan syndrome

Taiwanese Journal of Obstetrics & Gynecology
Objective: To report the first case of cystic hygroma with confined placental mosaicism (CPM) of tetraploidy leading to Noonan syndrome. Case report: At 12 weeks of gestation, fetal cystic hygroma was identified, and chorionic villus sampling (CVS ...
Yuki Ito, Ken Takahashi, Erina Nagao, Masahisa Kobayashi, Osamu Samura, Aikou Okamoto   +5 more
doaj   +1 more source