Down Syndrome in Maternity Care: Mothers' Experiences of Prenatal Screening
American Journal of Medical Genetics Part A, Volume 200, Issue 1, Page 7-22, January 2026.ABSTRACT Prenatal screening for Down syndrome (DS) is offered to expectant parents receiving antenatal care in many countries, with an emphasis on providing parents with the opportunity to make informed choices about their pregnancy. We examined experiences of prenatal screening among mothers of children with DS living in England, Scotland, or Wales ...
Tamar Rutter +5 more
wiley +1 more source
Loote kromosoomihaiguste sünnieelne diagnostika: kokkuvõte II trimestri vereseerumi sõeltesti tulemustest Eestis [PDF]
, 2008 Töös antakse ülevaade II trimestri vereseerumi biokeemiliste markerite sõeltesti (double/triple test ehk kaksik-/kolmiktest) rakendamise tulemustest nooremas vanuserühmas (≤ 35/37) Eestis 8 aasta jooksul (1999–2006).
Muru, Kai, Reimand, Tiia, Sitska, Mari
core +2 more sources
Clinical Case Reports, Volume 14, Issue 1, January 2026.ABSTRACT This case analysis examines the clinical data, molecular genetic testing results, and 20‐month clinical data of long‐acting recombinant human growth hormone (rhGH) treatment in a child with KBG syndrome (KBGS). The child exhibited a c.1591delG frameshift mutation in the ANKRD11 gene associated with KBGS, a variant not previously reported ...
Hui Nan, Pu Zhang, Jing Qian
wiley +1 more source
Balkan Journal of Medical Genetics, 2016 Chromosome 13 is one of the acrocentric chromosomes of the human karyotype. Acrocentric chromosomes are the most variable chromosomes in the human karyotype and these variations appear to have no clinical consequences.
Uzun I +5 more
doaj +1 more source
Association of maternal serum PAPP-A levels, nuchal translucency and crown rump length in first trimester with adverse pregnancy outcomes: Retrospective cohort study. [PDF]
, 2017 OBJECTIVE: Are first trimester serum pregnancy-associated plasma protein-A (PAPP-A), nuchal translucency (NT) and crown rump length (CRL) prognostic factors for adverse pregnancy outcomes?
Bilagi, A +5 more
core +2 more sources
Clinical investigations to calculate nuchal translucency using F-LNET
Journal of Applied Pharmaceutical ResearchBackground: According to ongoing research, assessing nuchal translucency (NT) in ultrasound pictures can help to identify fetal development that deviates from the norm.
Kalyani Chaudhari, Shruti Oza
doaj +1 more source
Providing effective maternity care for women affected by fibromyalgia [PDF]
, 2011 Fibromyalgia is a condition for which information is not readily accessible in midwifery or obstetric text books. This ‘invisible disability’ can have detrimental implications for all aspects of maternity care.
King, Denyse
core +1 more source
Trisomy 9 with increased nuchal translucency: ultrasound and pathologic correlation - a case report [PDF]
, 2001 We report a case of prenatal diagnosis of trisomy 9 in a fetus presenting increased translucency thickness (9.1 mm) observed on an ultrasound scan performed at 12 weeks pregnancy and confirmed by cariotype analysis of biopsy material obtained from the ...
Merçon-de-vargas, Paulo Roberto +1 more
core +3 more sources
Fetal nuchal translucency measurements in women aged 35 and older. Results from 1.1. 99-31.12.00 [PDF]
, 2008 Neðst á síðunni er hægt að nálgast greinina í heild sinni með því að smella á hlekkinn View/OpenObjective: Based on a combination of ultrasound fetal nuchal translucency measurement at 11-13 weeks and maternal age, a risk assessment for fetal aneuploidy ...
Hildur Harðardóttir
core
Prenatal ultrasound diagnosis of fetal chest wall cystic lymphangioma: An Italian case series [PDF]
, 2019 Fetal lymphangioma is a rare congenital malformation of lymphatic system that involve the skin and the subcutaneous tissue. The vast majority of the lymphangioma occurs in the neck.
Berghella, Vincenzo +7 more
core +1 more source