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Subject 618.32075

2. Identification of KLHL40 mutations by targeted next‐generation sequencing facilitated a prenatal diagnosis in a family with three consecutive affected fetuses with fetal akinesia deformation sequence. (18th November 2016)

Authors:
Chen, Tai‐Heng; Tian, Xia; Kuo, Pao‐Lin; Pan, Hui‐Ping; Wong, Lee‐Jun C.; Jong, Yuh‐Jyh
Journal:
Prenatal diagnosis
Issue:
Volume 36:Number 12(2016)
Page Start:
1135
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. Trial by Dutch laboratories for evaluation of non‐invasive prenatal testing. Part I—clinical impact. (15th November 2016)

Authors:
Oepkes, Dick; Page‐Christiaens, G. C. (Lieve); Bax, Caroline J.; Bekker, Mireille N.; Bilardo, Catia M.; Boon, Elles M. J.; Schuring‐Blom, G. Heleen; Coumans, Audrey B. C.; Faas, Brigitte H.; Galjaard, Robert‐Jan H.; Go, Attie T.; Henneman, Lidewij; Macville, Merryn V. E.; Pajkrt, Eva; Suijkerbui...
Journal:
Prenatal diagnosis
Issue:
Volume 36:Number 12(2016)
Page Start:
1083
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

4. Absolute first trimester cell‐free DNA levels and their associations with adverse pregnancy outcomes. (10th November 2016)

Authors:
Thurik, Florentine F.; Lamain‐de Ruiter, Marije; Javadi, Ahmad; Kwee, Anneke; Woortmeijer, Heleen; Page‐Christiaens, Godelieve C. M. L.; Franx, Arie; van der Schoot, C. Ellen; Koster, Maria P. H.
Journal:
Prenatal diagnosis
Issue:
Volume 36:Number 12(2016)
Page Start:
1104
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

5. Trial by Dutch laboratories for evaluation of non‐invasive prenatal testing. Part II—women's perspectives†. (16th November 2016)

Authors:
van Schendel, Rachèl V.; Page‐Christiaens, G. C. (Lieve); Beulen, Lean; Bilardo, Catia M.; de Boer, Marjon A.; Coumans, Audrey B. C.; Faas, Brigitte H.; van Langen, Irene M.; Lichtenbelt, Klaske D.; van Maarle, Merel C.; Macville, Merryn V. E.; Oepkes, Dick; Pajkrt, Eva; Henneman, Lidewij
Journal:
Prenatal diagnosis
Issue:
Volume 36:Number 12(2016)
Page Start:
1091
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

7. Evaluation of long‐term neurodevelopment in twin–twin transfusion syndrome after laser therapy. (15th November 2016)

Authors:
Sananès, Nicolas; Gabriele, Victor; Weingertner, Anne Sophie; Ruano, Rodrigo; Sanz‐Cortes, Magdalena; Gaudineau, Adrien; Langer, Bruno; Nisand, Israël; Akladios, Chérif Youssef; Favre, Romain
Journal:
Prenatal diagnosis
Issue:
Volume 36:Number 12(2016)
Page Start:
1139
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

8. Non‐invasive prenatal testing offered as part of a combined first‐trimester screening program identifies tetrasomy 18p in a high‐risk pregnancy. (10th November 2016)

Authors:
Lildballe, Dorte Launholt; Vogel, Ida; Lund, Ida Charlotte Bay; Stornes, Inger; Jørgensen, Mette Warming; Vestergaard, Else Marie
Journal:
Prenatal diagnosis
Issue:
Volume 36:Number 12(2016)
Page Start:
1112
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

9. Genome‐wide copy number analysis on DNA from fetal cells isolated from the blood of pregnant women. (18th November 2016)

Authors:
Kølvraa, Steen; Singh, Ripudaman; Normand, Elizabeth A.; Qdaisat, Sadeem; van den Veyver, Ignatia B.; Jackson, Laird; Hatt, Lotte; Schelde, Palle; Uldbjerg, Niels; Vestergaard, Else Marie; Zhao, Li; Chen, Rui; Shaw, Chad A.; Breman, Amy M.; Beaudet, Arthur L.
Journal:
Prenatal diagnosis
Issue:
Volume 36:Number 12(2016)
Page Start:
1127
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

10. Frequency of fetal karyotype abnormalities in women undergoing invasive testing in the absence of ultrasound and other high‐risk indications. (18th November 2016)

Authors:
Ferreira, Jose Carlos P.; Grati, Francesca R.; Bajaj, Komal; Malvestiti, Francesca; Grimi, Maria Beatrice; Trotta, Anna; Liuti, Rosaria; Milani, Silvia; Branca, Lara; Hartman, Jacob; Maggi, Federico; Simoni, Giuseppe; Gross, Susan J.
Journal:
Prenatal diagnosis
Issue:
Volume 36:Number 12(2016)
Page Start:
1146
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗