Results 71 to 80 of about 146,711 (318)

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   +1 more source

Chromosomal microarray analysis for prenatal diagnosis of uniparental disomy: a retrospective study

Molecular Cytogenetics
Background Chromosomal microarray analysis (CMA) is a valuable tool in prenatal diagnosis for the detection of chromosome uniparental disomy (UPD).
Chenxia Xu, Miaoyuan Li, Tiancai Gu, Fenghua Xie, Yanfang Zhang, Degang Wang, Jianming Peng   +6 more
doaj   +1 more source

Evaluation of prenatal diagnosis of associated congenital heart diseases by fetal ultrasonographic examination in Europe.

, 2001
Ultrasound scans in the mid trimester of pregnancy are now a routine part of antenatal care in most European countries. With the assistance of Registries of Congenital Anomalies a study was undertaken in Europe. The objective of the study was to evaluate
Stoll, C., Garne, E., Clementi, M.
core   +1 more source

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source

Pregnant women's informational needs prior to decisions about prenatal diagnosis for chromosomal anomalies : A Q methodological study

Objective To study pregnant women's subjective viewpoints on what is important when receiving information prior to decision-making regarding prenatal testing for chromosomal anomalies. Method Data were collected using Q methodology.
Ternby, Ellen, Ingvoldstad Malmgren, Charlotta, Malmgren, CI, Axelsson, Ove, Georgsson, S, Axelsson, Ove,, Georgsson, Susanne,, Axelsson, O, Ternby, Ellen,, Ternby, E, Georgsson, Susanne, Ingvoldstad Malmgren, Charlotta,   +11 more
core   +1 more source

Prenatal diagnosis of jumping translocation involving chromosome 22 with ultrasonographic findings

, 2005
We report on the prenatal diagnosis and ultrasonographic findings of a second-trimester fetus with jumping translocation involving chromosome 22. A 28-year-old gravida 2, partus 1, Turkish woman was referred for genetic counselling and ultrasonographic ...
Yıldırım, Gökhan, Karaman, Birsen, Ceylan, Yavuz, Aslan, Halil   +3 more
core   +1 more source

Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.
Camille Viaut, Valerie Cormier‐Daire
wiley   +1 more source

Optical genome mapping of a complex structural rearrangement family line on chromosome 18

Hereditas
Background Complex chromosomal rearrangement (CCR) refers to a structural rearrangement involving at least two chromosomes or a minimum of three breakpoints.
Liyi Cai, Yuying Jiang, Na Zhang, Xinying Chen   +3 more
doaj   +1 more source

Associated factors of secondary sex ratio of offspring in assisted reproductive technology: a cross-sectional study in Jilin Province, China

BMC Pregnancy and Childbirth, 2020
Background The aim of this study was to determine the secondary sex ratio (SSR) of offspring in assisted reproduction technology (ART) in Jilin Province, China, and to analyse the influencing factors associated with SSR.
Mohan Wang, Xiangyin Liu, Han Zhang, Leilei Li, Ruizhi Liu, Hongguo Zhang, Yang Yu   +6 more
doaj   +1 more source

Prenatal Diagnosis of Iniencephaly

Taiwanese Journal of Obstetrics and Gynecology, 2007
Iniencephaly is characterized by a variable deficit of the occipital bones, resulting in an enlarged foramen magnum; partial or total absence of cervical and thoracic vertebrae with an irregular fusion of those present, accompanied by incomplete closure of the vertebral arches and/or bodies; significant shortening of the spinal column due to marked ...
openaire   +3 more sources