Results 51 to 60 of about 147,199 (219)
Genetics in prenatal diagnosis
Singapore Medical Journal, 2023 The options for prenatal genetic testing have evolved rapidly in the past decade, and advances in sequencing technology now allow genetic diagnoses to be made down to the single-base-pair level, even before the birth of the child. This offers women the opportunity to obtain information regarding the foetus, thereby empowering them to make informed ...
Karen Mei Xian Lim +3 more
openaire +3 more sources
False non-paternity in a family for prenatal diagnosis of β-thalassaemia [PDF]
, 1993 Initial screening for the common β-thalassaemia mutations with allele-specific oligonucleotide probe in an at-risk family suggested non-paternity. Subsequent DNA fingerprinting of the members proved otherwise.
Todd, D +4 more
core +1 more source
BMC Medical Genomics, 2021 Background Some ultrasonic soft markers can be found during ultrasound examination. However, the etiology of the fetuses with ultrasonic soft markers is still unknown.
Meiying Cai +6 more
doaj +1 more source
A Beckwith-Wiedemann syndrome case with de novo 24 Mb duplication of chromosome 11p15.5p14.3
Molecular Cytogenetics, 2021 Background Molecular genetic testing for the 11p15-associated imprinting disorder Beckwith-Wiedemann syndrome (BWS) is challenging because of the molecular heterogeneity and complexity of the affected imprinted regions.
Huling Jiang +10 more
doaj +1 more source
Impact of prenatal diagnosis of complex congenital heart disease on neonatal and infant morbidity and mortality [PDF]
, 2018 Objectives The objective of this study was to analyze the benefits associated with prenatal diagnosis of complex congenital heart disease (CHD) on preoperative morbidity, 30‐day and 1‐year mortality in this population.
Chakraborty, Abhishek +2 more
core +1 more source
Prenatal Diagnosis of Galactosaemia [PDF]
BMJ, 1974 We have monitored two pregnancies from families at risk for galactosaemia. The fetus was diagnosed as having galactosaemia in one and to be unaffected in the other. The accuracy of the predictions was confirmed postnatally. Assays for galactose 1-phosphate uridyl transferase involving the reduction of the coenzymes NAD or NADP are unsuitable for ...
A H, Fensom, P F, Benson, S, Blunt
openaire +2 more sources
Prenatal diagnosis and postnatal follow-up of congenitally corrected transposition of the great arteries and recurrent supraventricular tachycardia [PDF]
, 2013 The prenatal sonographic diagnosis of congenitally corrected transposition of the great arteries (ccTGA), a rare form of congenital heart disease is very difficult.
Celik, I. +3 more
core
The expressivist objection to prenatal testing : the experiences of families living with genetic disease [PDF]
, 2014 The expressivist objection to prenatal testing is acknowledged as a significant critique of prenatal testing practices most commonly advanced by disability rights supporters.
Felicity Kate Boardman +2 more
core +1 more source
Molecular Cytogenetics, 2021 Background Trisomy 19q is a recognizable syndrome and associated with a wide spectrum of clinical phenotypes in clinic. The purpose of this study was to explore the prenatal phenotypes of 19q13.42 duplication, which was rarely reported in clinic.
Xinyue Zhang +6 more
doaj +1 more source
Outcome of chromosomally abnormal pregnancies in Lebanon: Obstetricians' roles during and after prenatal diagnosis [PDF]
, 2007 Objectives: To better understand obstetrician experiences in Lebanon when disclosing abnormal amniocentesis results. Methods: Structured interviews with 38 obstetricians identified as caregivers from the American University of Beirut Medical Center ...
Zahed L.F. +4 more
core +1 more source