Non-Invasive Prenatal Diagnosis in the Management of Preimplantation Genetic Diagnosis Pregnancies

Journal of Clinical Medicine

Ana Bustamante-Aragones †¹  Sara Perlado-Marina †¹  Maria José Trujillo-Tiebas¹  Jesús Gallego-Merlo¹  Isabel Lorda-Sanchez¹  Luz Rodríguez-Ramirez²  Concepcion Linares²  Corazón Hernandez² 

[1] Genetics Service, Fundacion Jimenez Diaz-IIS, Avda. Reyes Catolicos, 2, 28040 Madrid, Spain; E-Mails:;Assisted Reproduction Unit, Fundacion Jimenez Diaz-IIS, Avda. Reyes Catolicos, 2, 28040 Madrid, Spain; E-Mails:

关键词: ccffDNA;    maternal plasma;    NIPD;    preimplantation genetic diagnosis;   

DOI  :  10.3390/jcm3030913

来源: mdpi

【 摘 要 】

Prenatal diagnosis (PD) is recommended in pregnancies after a Preimplantation Genetic Diagnosis (PGD). However, conventional PD entails a risk of fetal loss which makes PGD patients reluctant to undergo obstetric invasive procedures. The presence of circulating fetal DNA in maternal blood allows performing a non-invasive prenatal diagnosis (NIPD) without risk for the pregnancy outcome. This work shows the introduction of NIPD for confirmation of PGD results in eight pregnancies. In those pregnancies referred to PGD for an X-linked disorder (six out of eight), fetal sex determination in maternal blood was performed to confirm fetal sex. One pregnancy referred to PGD for Marfan syndrome and one referred for Huntington disease (HD) were also analyzed. In seven out of eight cases, PGD results were confirmed by NIPD in maternal blood. No results were obtained in the HD pregnancy. NIPD in PGD pregnancies can be a reliable alternative for couples that after a long process feel reluctant to undergo PD due to the risk of pregnancy loss.

【 授权许可】

CC BY   
© 2014 by the authors; licensee MDPI, Basel, Switzerland.