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J. Clin. Med. 2014, 3(3), 913-922; doi:10.3390/jcm3030913

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

1
Genetics Service, Fundacion Jimenez Diaz-IIS, Avda. Reyes Catolicos, 2, 28040 Madrid, Spain
2
Assisted Reproduction Unit, Fundacion Jimenez Diaz-IIS, Avda. Reyes Catolicos, 2, 28040 Madrid, Spain
These authors contributed equally to this work.
*
Author to whom correspondence should be addressed.
Received: 2 April 2014 / Revised: 27 May 2014 / Accepted: 25 June 2014 / Published: 14 August 2014
(This article belongs to the Special Issue Prenatal Genetic Screening and Diagnosis-Part 2)
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Abstract

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. View Full-Text
Keywords: ccffDNA; maternal plasma; NIPD; preimplantation genetic diagnosis ccffDNA; maternal plasma; NIPD; preimplantation genetic diagnosis
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MDPI and ACS Style

Bustamante-Aragones, A.; Perlado-Marina, S.; Trujillo-Tiebas, M.J.; Gallego-Merlo, J.; Lorda-Sanchez, I.; Rodríguez-Ramirez, L.; Linares, C.; Hernandez, C.; de Alba, M.R. Non-Invasive Prenatal Diagnosis in the Management of Preimplantation Genetic Diagnosis Pregnancies. J. Clin. Med. 2014, 3, 913-922.

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