Prenatal diagnosis

Keyphrases

Publications

volume 44, number 8, 2024

Wei-Si Dai, Yan-Dong Yang, Dong-Zhi Li
A novel MED12 pathogenic variant in a female fetus with facial cleft and cardiac defects identified in the first trimester. Prenatal diagnosis 44 (8) (2024)
Anđela Stanković, Mina Toljić, Nataša Karadžov Orlić, Željko Miković, Ivana Joksić
Expanding the phenotypic spectrum of MPDZ gene variants: A case report with prenatally detected Dandy-Walker malformation and single ventricle heart. Prenatal diagnosis 44 (8) (2024)
Giulia Biancotto, Giulia Rosti, Francesca Madia, Valeria Capra, Marcello Scala, Elena Aleo, Dario Paladini
Truncating variants in PAPSS2 gene: A cause of early prenatal onset brachyolmia? Prenatal diagnosis 44 (8) (2024)

volume 44, number 9, 2024

Qiu-Xia Yu, Na Liu, Li Zhen, Xiao-Mei Lin, Yun-Jing Wen, Dong-Zhi Li
Phenotypic and genotypic analysis of 11 fetal cases with Bardet-Biedl syndrome. Prenatal diagnosis 44 (9) (2024)
Noa Liscovitch-Brauer, Ravit Mesika, Tom Rabinowitz, Hadas Volkov, Meitar Grad, Reut Tomashov Matar, Lina Basel-Salmon, Oren Tadmor, Amir Beker, Noam Shomron
Machine learning-enhanced noninvasive prenatal testing of monogenic disorders. Prenatal diagnosis 44 (9) (2024)
Qian Mu, Ling Bai, Bing Xu, Huawen Du, Zhaoyun Jiang, Shasha Huang, Bo Gao, Qixi Wu, Hanqing Zhao, Pu Dai, Yi Jiang
A capture-based method of prenatal cell-free DNA screening for autosomal recessive non-syndromic hearing loss. Prenatal diagnosis 44 (9) (2024)
Carly M Smith, Kristi Guinon, Suha Bachir, Christina G Tise
Fetal phenotype and diagnosis of autosomal dominant Robinow syndrome due to novel DVL1 variant. Prenatal diagnosis 44 (9) (2024)
Lucie Guilbaud, Elena Carreras, Catherine Garel, Nerea Maiz, Ferdinand Dhombres, Jan A Deprest, Jean-Marie Jouannic, null null
Proposal for standardized prenatal assessment of fetal open dysraphisms by the European reference network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies (ITHACA) and eUROGEN. Prenatal diagnosis 44 (9) (2024)
Lucie Guilbaud, Elena Carreras, Catherine Garel, Nerea Maiz, Ferdinand Dhombres, Jan A Deprest, Jean-Marie Jouannic, null null
Proposal for standardized prenatal assessment of fetal open dysraphisms by the European reference network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies (ITHACA) and eUROGEN. Prenatal diagnosis 44 (9) (2024)
Annah M Lane, James Christie, Owen John Arthurs, Stacy K Goergen
In-utero post-mortem MRI, opportunistic imaging with diagnostic yield. Prenatal diagnosis 44 (9) (2024)
Maja Dolanc Merc, Urška Kotnik, Borut Peterlin, Luca Lovrecic
Further exploration of cardiac channelopathy and cardiomyopathy genes in stillbirth. Prenatal diagnosis 44 (9) (2024)
Maud Favier, Rodolph Dard, Guillaume Gorincour, Aude Tessier, Emmanuelle Motte-Signoret, Clemence Duvillier, Caroline Racine, Laurence Faivre, Christel Thauvin-Robinet, Frédéric Tran Mau Them
Discovery of pathogenic variants in EFEMP2 and RAG1 and undetectable fetal phenotype: A challenge of prenatal exome sequencing. Prenatal diagnosis 44 (9) (2024)
Vivien Cuvelier, Detlef Trost, Morgane Stichelbout, Caroline Michot, Valérie Cormier-Daire, Nathalie Boutry, Elise Machet, Catherine Vincent-Delorme
Gnathodiaphyseal dysplasia: Diagnostic clues from two fetal cases and literature review. Prenatal diagnosis 44 (9) (2024)
Liling Lin, Ying Zhang, Hong Pan, Jingmin Wang, Yu Qi, Yinan Ma
Inconsistencies between prenatal diagnostic and genetic testing laboratories on variant validation of rare monogenic diseases. Prenatal diagnosis 44 (9) (2024)
Qiu-Xia Yu, Na Liu, Li Zhen, Xiao-Mei Lin, Yun-Jing Wen, Dong-Zhi Li
Phenotypic and genotypic analysis of 11 fetal cases with Bardet-Biedl syndrome. Prenatal diagnosis 44 (9) (2024)
Vivien Cuvelier, Detlef Trost, Morgane Stichelbout, Caroline Michot, Valérie Cormier-Daire, Nathalie Boutry, Elise Machet, Catherine Vincent-Delorme
Gnathodiaphyseal dysplasia: Diagnostic clues from two fetal cases and literature review. Prenatal diagnosis 44 (9) (2024)
Michelle Joy Wang, Daniela A Febres-Cordero, Tabitha Poorvu, Paula Delerme, Jonathan Hecht, Yinka Oyelese, Barbara O'Brien, Millie Anne Ferrés
Caudal regression in fetus with de novo SMARCA2 pathogenic variant. Prenatal diagnosis 44 (9) (2024)
Qian Mu, Ling Bai, Bing Xu, Huawen Du, Zhaoyun Jiang, Shasha Huang, Bo Gao, Qixi Wu, Hanqing Zhao, Pu Dai, Yi Jiang
A capture-based method of prenatal cell-free DNA screening for autosomal recessive non-syndromic hearing loss. Prenatal diagnosis 44 (9) (2024)
Lingrong Kong, Zhenhua Zhao, Xinyu Fu, Huanyun Li, Jingqi Zhu, Di Wu, Xiangdong Kong, Lu-Ming Sun
Noninvasive twin genotyping for recessive monogenic disorders by relative haplotype dosage. Prenatal diagnosis 44 (9) (2024)
Steven T Papastefan, Amir M Alhajjat, Katherine C Ott, Daniel R Liesman, Morgan M Langereis, Anne C Boat, Xavier F Pombar, Michelle A Kominiarek, Robin M Bowman, Aimen F Shaaban
Fetal bradycardia in open versus fetoscopic prenatal repair of spina bifida. Prenatal diagnosis 44 (9) (2024)
Lingrong Kong, Zhenhua Zhao, Xinyu Fu, Huanyun Li, Jingqi Zhu, Di Wu, Xiangdong Kong, Lu-Ming Sun
Noninvasive twin genotyping for recessive monogenic disorders by relative haplotype dosage. Prenatal diagnosis 44 (9) (2024)
Liling Lin, Ying Zhang, Hong Pan, Jingmin Wang, Yu Qi, Yinan Ma
Inconsistencies between prenatal diagnostic and genetic testing laboratories on variant validation of rare monogenic diseases. Prenatal diagnosis 44 (9) (2024)
Carly M Smith, Kristi Guinon, Suha Bachir, Christina G Tise
Fetal phenotype and diagnosis of autosomal dominant Robinow syndrome due to novel DVL1 variant. Prenatal diagnosis 44 (9) (2024)
Michelle Joy Wang, Daniela A Febres-Cordero, Tabitha Poorvu, Paula Delerme, Jonathan Hecht, Yinka Oyelese, Barbara O'Brien, Millie Anne Ferrés
Caudal regression in fetus with de novo SMARCA2 pathogenic variant. Prenatal diagnosis 44 (9) (2024)
Liling Lin, Ying Zhang, Hong Pan, Jingmin Wang, Yu Qi, Yinan Ma
Inconsistencies between prenatal diagnostic and genetic testing laboratories on variant validation of rare monogenic diseases. Prenatal diagnosis 44 (9) (2024)
Maud Favier, Rodolph Dard, Guillaume Gorincour, Aude Tessier, Emmanuelle Motte-Signoret, Clemence Duvillier, Caroline Racine, Laurence Faivre, Christel Thauvin-Robinet, Frédéric Tran Mau Them
Discovery of pathogenic variants in EFEMP2 and RAG1 and undetectable fetal phenotype: A challenge of prenatal exome sequencing. Prenatal diagnosis 44 (9) (2024)
Ellis C Becking, Lidewij Henneman, Neeltje M T H Crombag, Janneke Bertorotta, Ylana Rijsbergen, Caroline J Bax, Elsbeth van Vliet-Lachotzki, Peter G Scheffer, Mirielle N Bekker
Perspectives of pregnant women on broadening the scope of noninvasive prenatal testing from screening for foetal aneuploidies to prediction of adverse pregnancy outcomes: A qualitative study. Prenatal diagnosis 44 (9) (2024)
Steven T Papastefan, Amir M Alhajjat, Katherine C Ott, Daniel R Liesman, Morgan M Langereis, Anne C Boat, Xavier F Pombar, Michelle A Kominiarek, Robin M Bowman, Aimen F Shaaban
Fetal bradycardia in open versus fetoscopic prenatal repair of spina bifida. Prenatal diagnosis 44 (9) (2024)
Vivien Cuvelier, Detlef Trost, Morgane Stichelbout, Caroline Michot, Valérie Cormier-Daire, Nathalie Boutry, Elise Machet, Catherine Vincent-Delorme
Gnathodiaphyseal dysplasia: Diagnostic clues from two fetal cases and literature review. Prenatal diagnosis 44 (9) (2024)
Annah M Lane, James Christie, Owen John Arthurs, Stacy K Goergen
In-utero post-mortem MRI, opportunistic imaging with diagnostic yield. Prenatal diagnosis 44 (9) (2024)
Maud Favier, Rodolph Dard, Guillaume Gorincour, Aude Tessier, Emmanuelle Motte-Signoret, Clemence Duvillier, Caroline Racine, Laurence Faivre, Christel Thauvin-Robinet, Frédéric Tran Mau Them
Discovery of pathogenic variants in EFEMP2 and RAG1 and undetectable fetal phenotype: A challenge of prenatal exome sequencing. Prenatal diagnosis 44 (9) (2024)
Lucie Guilbaud, Elena Carreras, Catherine Garel, Nerea Maiz, Ferdinand Dhombres, Jan A Deprest, Jean-Marie Jouannic, null null
Proposal for standardized prenatal assessment of fetal open dysraphisms by the European reference network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies (ITHACA) and eUROGEN. Prenatal diagnosis 44 (9) (2024)
Maud Favier, Rodolph Dard, Guillaume Gorincour, Aude Tessier, Emmanuelle Motte-Signoret, Clemence Duvillier, Caroline Racine, Laurence Faivre, Christel Thauvin-Robinet, Frédéric Tran Mau Them
Discovery of pathogenic variants in EFEMP2 and RAG1 and undetectable fetal phenotype: A challenge of prenatal exome sequencing. Prenatal diagnosis 44 (9) (2024)
Steven T Papastefan, Amir M Alhajjat, Katherine C Ott, Daniel R Liesman, Morgan M Langereis, Anne C Boat, Xavier F Pombar, Michelle A Kominiarek, Robin M Bowman, Aimen F Shaaban
Fetal bradycardia in open versus fetoscopic prenatal repair of spina bifida. Prenatal diagnosis 44 (9) (2024)
Ellis C Becking, Lidewij Henneman, Neeltje M T H Crombag, Janneke Bertorotta, Ylana Rijsbergen, Caroline J Bax, Elsbeth van Vliet-Lachotzki, Peter G Scheffer, Mirielle N Bekker
Perspectives of pregnant women on broadening the scope of noninvasive prenatal testing from screening for foetal aneuploidies to prediction of adverse pregnancy outcomes: A qualitative study. Prenatal diagnosis 44 (9) (2024)
Maja Dolanc Merc, Urška Kotnik, Borut Peterlin, Luca Lovrecic
Further exploration of cardiac channelopathy and cardiomyopathy genes in stillbirth. Prenatal diagnosis 44 (9) (2024)
Carly M Smith, Kristi Guinon, Suha Bachir, Christina G Tise
Fetal phenotype and diagnosis of autosomal dominant Robinow syndrome due to novel DVL1 variant. Prenatal diagnosis 44 (9) (2024)
Qian Mu, Ling Bai, Bing Xu, Huawen Du, Zhaoyun Jiang, Shasha Huang, Bo Gao, Qixi Wu, Hanqing Zhao, Pu Dai, Yi Jiang
A capture-based method of prenatal cell-free DNA screening for autosomal recessive non-syndromic hearing loss. Prenatal diagnosis 44 (9) (2024)
Ellis C Becking, Lidewij Henneman, Neeltje M T H Crombag, Janneke Bertorotta, Ylana Rijsbergen, Caroline J Bax, Elsbeth van Vliet-Lachotzki, Peter G Scheffer, Mirielle N Bekker
Perspectives of pregnant women on broadening the scope of noninvasive prenatal testing from screening for foetal aneuploidies to prediction of adverse pregnancy outcomes: A qualitative study. Prenatal diagnosis 44 (9) (2024)
Qiu-Xia Yu, Na Liu, Li Zhen, Xiao-Mei Lin, Yun-Jing Wen, Dong-Zhi Li
Phenotypic and genotypic analysis of 11 fetal cases with Bardet-Biedl syndrome. Prenatal diagnosis 44 (9) (2024)
Michelle Joy Wang, Daniela A Febres-Cordero, Tabitha Poorvu, Paula Delerme, Jonathan Hecht, Yinka Oyelese, Barbara O'Brien, Millie Anne Ferrés
Caudal regression in fetus with de novo SMARCA2 pathogenic variant. Prenatal diagnosis 44 (9) (2024)
Annah M Lane, James Christie, Owen John Arthurs, Stacy K Goergen
In-utero post-mortem MRI, opportunistic imaging with diagnostic yield. Prenatal diagnosis 44 (9) (2024)
Noa Liscovitch-Brauer, Ravit Mesika, Tom Rabinowitz, Hadas Volkov, Meitar Grad, Reut Tomashov Matar, Lina Basel-Salmon, Oren Tadmor, Amir Beker, Noam Shomron
Machine learning-enhanced noninvasive prenatal testing of monogenic disorders. Prenatal diagnosis 44 (9) (2024)
Lingrong Kong, Zhenhua Zhao, Xinyu Fu, Huanyun Li, Jingqi Zhu, Di Wu, Xiangdong Kong, Lu-Ming Sun
Noninvasive twin genotyping for recessive monogenic disorders by relative haplotype dosage. Prenatal diagnosis 44 (9) (2024)
Vivien Cuvelier, Detlef Trost, Morgane Stichelbout, Caroline Michot, Valérie Cormier-Daire, Nathalie Boutry, Elise Machet, Catherine Vincent-Delorme
Gnathodiaphyseal dysplasia: Diagnostic clues from two fetal cases and literature review. Prenatal diagnosis 44 (9) (2024)
Annah M Lane, James Christie, Owen John Arthurs, Stacy K Goergen
In-utero post-mortem MRI, opportunistic imaging with diagnostic yield. Prenatal diagnosis 44 (9) (2024)
Carly M Smith, Kristi Guinon, Suha Bachir, Christina G Tise
Fetal phenotype and diagnosis of autosomal dominant Robinow syndrome due to novel DVL1 variant. Prenatal diagnosis 44 (9) (2024)
Michelle Joy Wang, Daniela A Febres-Cordero, Tabitha Poorvu, Paula Delerme, Jonathan Hecht, Yinka Oyelese, Barbara O'Brien, Millie Anne Ferrés
Caudal regression in fetus with de novo SMARCA2 pathogenic variant. Prenatal diagnosis 44 (9) (2024)
Maja Dolanc Merc, Urška Kotnik, Borut Peterlin, Luca Lovrecic
Further exploration of cardiac channelopathy and cardiomyopathy genes in stillbirth. Prenatal diagnosis 44 (9) (2024)
Noa Liscovitch-Brauer, Ravit Mesika, Tom Rabinowitz, Hadas Volkov, Meitar Grad, Reut Tomashov Matar, Lina Basel-Salmon, Oren Tadmor, Amir Beker, Noam Shomron
Machine learning-enhanced noninvasive prenatal testing of monogenic disorders. Prenatal diagnosis 44 (9) (2024)