Results 31 to 40 of about 28,591 (117)

Prenatal Detection of Congenital Hemangiopericytoma: Case Report and Systematic Review

Case Reports in Obstetrics and Gynecology
Congenital hemangiopericytoma (HPC) is a rare mesenchymal tumor of perivascular differentiation, characterized by prominent vascularity and heterogeneous clinical behavior in neonates.
Antonia Lettieri, Giuliana Orlandi, Olimpia Gabrielli, Luigi Manzo, Laura Letizia Mazzarelli, Giordana Sica, Letizia Di Meglio, Lavinia Di Meglio, Ferdinando Antonio Gulino, Carla Ettore, Giosuè Giordano Incognito, Attilio Tuscano, Maurizio Guida, Giuseppe Ettore, Aniello Di Meglio   +14 more
doaj   +1 more source

Application of exome sequencing for prenatal diagnosis of fetal structural anomalies: clinical experience and lessons learned from a cohort of 1618 fetuses

Genome Medicine, 2022
Background Exome sequencing (ES) is becoming more widely available in prenatal diagnosis. However, data on its clinical utility and integration into clinical management remain limited in practice. Herein, we report our experience implementing prenatal ES
Fang Fu, Ru Li, Qiuxia Yu, Dan Wang, Qiong Deng, Lushan Li, Tingying Lei, Guilan Chen, Zhiqiang Nie, Xin Yang, Jin Han, Min Pan, Li Zhen, Yongling Zhang, Xiangyi Jing, Fucheng Li, Fatao Li, Lina Zhang, Cuixing Yi, Yingsi Li, Yan Lu, Hang Zhou, Ken Cheng, Jian Li, Lina Xiang, Jing Zhang, Sha Tang, Ping Fang, Dongzhi Li, Can Liao   +29 more
doaj   +1 more source

Cell-free DNA screening for sex chromosome aneuploidies by non-invasive prenatal testing in maternal plasma

Molecular Cytogenetics, 2020
Background Non-invasive prenatal testing (NIPT) has been confirmed as the most accurate screening test for trisomies 21, 18, and 13. However, reports on NIPT performance in sex chromosome aneuploidies (SCA) based on real clinical data are still limited ...
Yipeng Wang, Shanshan Li, Wei Wang, Yuan Dong, Meng Zhang, Xin Wang, Chenghong Yin   +6 more
doaj   +1 more source

Chromosomal abnormalities and copy number variations in fetal ventricular septal defects

Molecular Cytogenetics, 2018
Background This study aimed to evaluate the applicability of chromosomal microarray analysis (CMA), rather than traditional chromosome analysis, in prenatal diagnosis of ventricular septal defects (VSDs) for superior prenatal genetic counseling and to ...
Meiying Cai, Hailong Huang, Linjuan Su, Na Lin, Xiaoqing Wu, Xiaorui Xie, Gang An, Ying Li, Yuan Lin, Liangpu Xu, Hua Cao   +10 more
doaj   +1 more source

Prenatal diagnosis of rearrangements in the fetal 22q11.2 region

Molecular Cytogenetics, 2020
Background 22q11.2 deletion syndrome (22q11.2DS) and 22q11.2 duplication syndrome (22q11.2DupS) are the most common copy number variations in humans. The clinical phenotypes of these two syndromes are variable, and there are no large sample data on the ...
Suping Li, Yuxia Jin, Jing Yang, Li Yang, Ping Tang, Chiyan Zhou, Liping Wu, Jinhua Dong, Jie Chen, Huaxiang Shen   +9 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   +1 more source

Pioneering point-of-care obstetric ultrasound integration in midwifery education – the MEPOCUS study

BMC Medical Education
Background Ultrasound technology is indispensable in perinatal care due to its non-invasive and painless nature, offering vital insights into foetal development and childbirth.
Julia Groos, Adeline Walter, Ruben Plöger, Brigitte Strizek, Ulrich Gembruch, Agnes Wittek, Florian Recker   +6 more
doaj   +1 more source

The Prenatal Visit [PDF]

Pediatrics, 2009
As advocates for children and their families, pediatricians can support and guide expectant parents in the prenatal period. Prenatal visits allow the pediatrician to gather basic information from expectant parents, offer them information and advice, and identify high-risk conditions that may require special care.
openaire   +2 more sources

Sonographic diagnosis of fetal eye anomalies and their association with syndromal diseases: A retrospective multicenter analysis of 264 cases

Acta Obstetricia et Gynecologica Scandinavica
Introduction This study aims to systematically describe eye malformations and correlate these with extraocular findings. Based on these findings, we propose a protocol for ultrasound evaluation of the fetal eye.
Jorge Jiménez Cruz, Paul Böckenhoff, Laura Tascón Padrón, Norah Emrich, Philipp Kosian, Brigitte Strizek, Cristoph Berg, Eva Weber, Ulrich Gembruch, Annegret Geipel   +9 more
doaj   +1 more source

Copy number variations associated with fetal congenital kidney malformations

Molecular Cytogenetics, 2020
Background Congenital anomalies of the kidney and urinary tract (CAKUT) constitute 20–30% of all congenital malformations. Within the CAKUT phenotypic spectrum, renal hypodysplasia (RHD) is particularly severe.
Meiying Cai, Na Lin, Linjuan Su, Xiaoqing Wu, Xiaorui Xie, Ying Li, Xuemei Chen, Yuan Lin, Hailong Huang, Liangpu Xu   +9 more
doaj   +1 more source