Results 71 to 80 of about 3,897,220 (150)

Variation in Prenatal Diagnosis of Congenital Heart Disease in Infants

Pediatrics, 2015
BACKGROUND AND OBJECTIVE: Prenatal diagnosis allows improved perioperative outcomes for fetuses with certain forms of congenital heart disease (CHD).
Michael D Quartermain, S. Pasquali, K. Hill, D. Goldberg, J. Huhta, J. Jacobs, M. Jacobs, Sunghee Kim, R. Ungerleider   +8 more
semanticscholar   +1 more source

Identification of important genes related to ferroptosis in early missed abortion based on WGCNA

Scientific Reports
Early missed abortion is defined as a pregnancy of ≤ 12 weeks in which there is a cessation of life in the developing embryo or fetus, leading to its retention within the uterine cavity without being spontaneously expelled promptly.
Yulu Zeng, Jiayi Gan, Jinlian Cheng, Changqiang Wei, Xiangyun Zhu, Shisi Wei, Lihong Pang   +6 more
doaj   +1 more source

Parent’s experiences of counselling and their need for support following a prenatal diagnosis of congenital heart disease - a qualitative study in a Swedish context

BMC Pregnancy and Childbirth, 2015
BackgroundPrenatal screening for foetal cardiac abnormalities has been increasingly practiced in Sweden during the last 25 years. A prenatal diagnosis may have medical benefits but may also cause sustained parental psychological distress. The aim of this
E. Bratt, S. Järvholm, Britt-Marie Ekman-Joelsson, L. Mattson, M. Mellander   +4 more
semanticscholar   +1 more source

A report of nine cases and review of the literature of infertile men carrying balanced translocations involving chromosome 5

Molecular Cytogenetics, 2018
Background Balanced translocations may cause the loss of genetic material at the breakpoints and may result in failure of spermatogenesis. However, carriers of reciprocal translocation may naturally conceive.
Hong-Guo Zhang, Rui-Xue Wang, Yuan Pan, Han Zhang, Lei-Lei Li, Hai-Bo Zhu, Rui-Zhi Liu   +6 more
doaj   +1 more source

Exome sequencing for prenatal diagnosis of fetuses with sonographic abnormalities

Prenatal Diagnosis, 2015
In the absence of aneuploidy or other pathogenic cytogenetic abnormality, fetuses with increased nuchal translucency (NT ≥ 3.5 mm) and/or other sonographic abnormalities have a greater incidence of genetic syndromes, but defining the underlying pathology
S. Drury, Hywel Williams, N. Trump, Christopher Boustred, N. Lench, R. Scott, L. Chitty   +6 more
semanticscholar   +1 more source

Expanding the phenotype of Triple X syndrome: A comparison of prenatal versus postnatal diagnosis

American Journal of Medical Genetics. Part A, 2016
Triple X syndrome (47, XXX) occurs in approximately 1:1,000 female births and has a variable phenotype of physical and psychological features. Prenatal diagnosis rates of 47, XXX are increasing due to non‐invasive prenatal genetic testing.
Kristen Wigby, C. d'Epagnier, S. Howell, Amy Reicks, Rebecca Wilson, Lisa Cordeiro, N. Tartaglia   +6 more
semanticscholar   +1 more source

Prenatal diagnosis and molecular cytogenetic characterization of fetuses with central nervous system anomalies using chromosomal microarray analysis: a seven-year single-center retrospective study

Scientific Reports
Few existing reports have investigated the copy number variants (CNVs) in fetuses with central nervous system (CNS) anomalies. To gain further insights into the genotype–phenotype relationship, we conducted chromosomal microarray analysis (CMA) to reveal
Jianlong Zhuang, Na Zhang, Yu’e Chen, Yuying Jiang, Xinying Chen, Wenli Chen, Chunnuan Chen   +6 more
doaj   +1 more source

Metabolic profiling and early prediction models for gestational diabetes mellitus in PCOS and non-PCOS pregnant women

European Journal of Medical Research
Background Gestational diabetes mellitus (GDM) is the most common pregnancy complication, significantly affecting maternal and neonatal health. Polycystic ovary syndrome (PCOS) is a common endocrine disorder characterized by metabolic abnormalities ...
Jin Wang, Can Cui, Fei Hou, Zhiyan Wu, Yingying Peng, Hua Jin   +5 more
doaj   +1 more source

P622: NIPS dilemma in the context of consanguinity: Considerations for counseling

Genetics in Medicine Open, 2023
Noura Osman, Kathryn Rice, Herman Hedriana, Krishna Singh   +3 more
doaj  

Fetal sex discordance

Taiwanese Journal of Obstetrics & Gynecology, 2020
Fetal sex discordance is an entity that is becoming more frequent due to the expansion of the cfDNA for prenatal diagnosis. Its incidence can be estimated in 1/1500–2000 pregnancies, a frequency as high as that of some common chromosomopathies.
Álvaro López Soto, Mar Bueno González, Isabel Urbano Reyes, Jose Luis Meseguer González, M Ángeles Jódar Pérez, Olivia García Izquierdo   +5 more
doaj