Noninvasive prenatal diagnosis of Huntington disease: detection of the paternally inherited expanded CAG repeat in maternal plasma

Prenatal Diagnosis
Jessica M E van den OeverElles M J Boon

Abstract

With a shift towards noninvasive testing, we have explored and validated the use of noninvasive prenatal diagnosis (NIPD) for Huntington disease (HD). Fifteen couples have been included, assessing a total of n = 20 pregnancies. Fetal paternally inherited CAG repeat length was determined in total cell-free DNA from maternal plasma using a direct approach by PCR and subsequent fragment analysis. All fetal HD (n = 7) and intermediate (n = 3) CAG repeats could be detected in maternal plasma. Detection of repeats in the normal range (n = 10) was successful in n = 5 cases where the paternal repeat size could be distinguished from maternal repeat patterns after fragment analysis. In all other cases (n = 5), the paternal peaks coincided with the maternal peak pattern. All NIPD results were concordant with results from routine diagnostics on fetal genomic DNA from chorionic villi. In this validation study, we demonstrated that all fetuses at risk for HD could be identified noninvasively in maternal plasma. Additionally, we have confirmed results from previously described case reports that NIPD for HD can be performed using a direct approach by PCR. For future diagnostics, parental CAG profiles can be used to predict the success rate for...Continue Reading

References

Aug 16, 1997·Lancet·Y M LoJ S Wainscoat
Mar 11, 2003·Prenatal Diagnosis·M C González-GonzálezC Ramos
Jan 8, 2004·Clinical Chemistry·K C Allen ChanY M Dennis Lo
Oct 15, 2008·Journal of Assisted Reproduction and Genetics·M Cristina González-GonzálezCarmen Ramos
Dec 4, 2008·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·A Bustamante-AragonesC Ramos
Jan 7, 2010·Fetal Diagnosis and Therapy·Ann Tabor, Zarko Alfirevic
Dec 15, 2010·Science Translational Medicine·Y M Dennis LoRossa W K Chiu
Jan 27, 2012·Clinical Chemistry·Jessica M E van den OeverElles M J Boon
May 9, 2012·Gene·Ana Bustamante-AragonésCarmen Ramos
May 3, 2014·Archives of Disease in Childhood. Fetal and Neonatal Edition·Rebecca DaleyLyn S Chitty

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Citations

May 14, 2016·American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics·Martha A Nance
Jan 31, 2017·Current Opinion in Obstetrics & Gynecology·Stephanie AllenBenjamin Bowns
Dec 14, 2018·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Raul E Piña-AguilarUNKNOWN UK HD Predictive Testing Consortium
Feb 8, 2021·European Journal of Obstetrics, Gynecology, and Reproductive Biology·Medhat Sabry AlberrySherif Abdel-Fattah

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