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J Clin Med. 2014 Aug 14;3(3):913-22. doi: 10.3390/jcm3030913.

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

Author information

1
Genetics Service, Fundacion Jimenez Diaz-IIS, Avda. Reyes Catolicos, 2, 28040 Madrid, Spain. abustamante@fjd.es.
2
Genetics Service, Fundacion Jimenez Diaz-IIS, Avda. Reyes Catolicos, 2, 28040 Madrid, Spain. sara.perlado@fjd.es.
3
Genetics Service, Fundacion Jimenez Diaz-IIS, Avda. Reyes Catolicos, 2, 28040 Madrid, Spain. mjtrujillo@fjd.es.
4
Genetics Service, Fundacion Jimenez Diaz-IIS, Avda. Reyes Catolicos, 2, 28040 Madrid, Spain. jgallegom@fjd.es.
5
Genetics Service, Fundacion Jimenez Diaz-IIS, Avda. Reyes Catolicos, 2, 28040 Madrid, Spain. ilorda@fjd.es.
6
Assisted Reproduction Unit, Fundacion Jimenez Diaz-IIS, Avda. Reyes Catolicos, 2, 28040 Madrid, Spain. lrodriguezr@fjd.es.
7
Assisted Reproduction Unit, Fundacion Jimenez Diaz-IIS, Avda. Reyes Catolicos, 2, 28040 Madrid, Spain. clinares@fjd.es.
8
Assisted Reproduction Unit, Fundacion Jimenez Diaz-IIS, Avda. Reyes Catolicos, 2, 28040 Madrid, Spain. chernandez@fjd.es.
9
Genetics Service, Fundacion Jimenez Diaz-IIS, Avda. Reyes Catolicos, 2, 28040 Madrid, Spain. mrodrigueza@fjd.es.

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.

KEYWORDS:

NIPD; ccffDNA; maternal plasma; preimplantation genetic diagnosis

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