Genomic Medicine in Prenatal Diagnosis

South, Sarah T.; Chen, Zhong; Brothman, Arthur R.

doi:10.1097/grf.0b013e3181616509

Cited by 21 publications

(8 citation statements)

References 14 publications

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“…We also used commercially available technologies for DNA amplification and analysis, which should be relatively easy to implement in a laboratory with standard genetic capabilities. Indeed, aCGH and similar technologies are becoming more common in the analysis of amniocentesis and CVS samples [46] .…”

Section: Discussionmentioning

confidence: 99%

Detection of Fetal Sex, Aneuploidy and a Microdeletion from Single Placental Syncytial Nuclear Aggregates

Holland

Kroneis²,

El‐Heliebi³

et al. 2016

Fetal Diagn Ther

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Objectives: A key problem in prenatal screening using extra-embryonic cells is the feasibility of extracting usable DNA from a small number of cells. Syncytial nuclear aggregates (SNAs) are multinucleated structures shed from the placenta. This study assesses the potential of SNAs as a source of fetal DNA for the detection of genetic abnormalities. Methods: SNAs were collected in vitro. Whole-genome amplification was used to amplify DNA from single SNAs, and DNA quality and quantity was assessed by spectrophotometry and PCR. Confocal microscopy was used to count nuclei within SNAs, determine metabolic activity and investigate DNA damage. Fetal sex and chromosomal/genetic abnormalities were investigated with array-comparative genomic hybridization (aCGH). Results: DNA was amplified from 81% of the individual SNAs. A mean of 61 ± 43 nuclei were found per SNA. DNA strand breaks were found in 76% of the SNAs. Seventy-five percent of SNAs yielded whole-genome-amplified DNA of sufficient quality for aCGH after storage and shipping. Individual SNAs from the same pregnancy reliably gave the same chromosomal profile, and fetal sex and trisomies could be detected. A microdeletion was detected in one pregnancy. Conclusion: SNAs could provide a source of extra-embryonic DNA for the prenatal screening/diagnosis of fetal sex and chromosomal and sub-chromosomal genetic abnormalities.

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Section: Discussionmentioning

confidence: 99%

Detection of Fetal Sex, Aneuploidy and a Microdeletion from Single Placental Syncytial Nuclear Aggregates

Holland

Kroneis²,

El‐Heliebi³

et al. 2016

Fetal Diagn Ther

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“…After a high diagnostic yield of postnatal array-CGH and SNP array was demonstrated in children with idiopathic mental retardation and multiple congenital anomalies [de Ravel et al, 2007;Lu et al, 2007;Stankiewicz and Beaudet, 2007;Hochstenbach et al, this volume] a debate started on whether this new technique could reliably be applied to DNA isolated from amniotic fluid or chorionic villi [Rickman et al, 2005;South et al, 2008]. Since 2005, numerous series and case reports have been published on the application of array-CGH in a prenatal setting.…”

Section: Experiences With Array-cgh and Snp Array In The Prenatal Setmentioning

confidence: 99%

From Karyotyping to Array-CGH in Prenatal Diagnosis

Lichtenbelt

Knoers²,

Schuring-Blom³

2011

Cytogenet Genome Res

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Conventional karyotyping detects chromosomal anomalies in up to 35% of pregnancies with fetal ultrasound anomalies, depending on the number and type of these anomalies. Extensive experience gained in the past decades has shown that prenatal karyotyping is a robust technique which can detect the majority of germline chromosomal anomalies. For most of these anomalies the phenotype is known. In postnatal diagnosis of patients with congenital anomalies and intellectual disability, array-CGH/SNP array has become the first-tier investigation. The higher abnormality detection yield and its amenability to automation renders array-CGH also suitable for prenatal diagnosis. As both findings of unclear significance and unexpected findings may be detected, studies on the outcome of array-CGH in prenatal diagnosis were initially performed retrospectively. Recently, prospective application of array-CGH in pregnancies with ultrasound anomalies, and to a lesser extent in pregnancies referred for other reasons, was studied. Array-CGH showed an increased diagnostic yield compared to karyotyping, varying from 1–5%, depending on the reason for referral. Knowledge of the spectrum of array-CGH anomalies detected in the prenatal setting will increase rapidly in the years to come, thus facilitating pre- and posttest counseling. Meanwhile, new techniques like non-invasive prenatal diagnosis are emerging and will claim their place. In this review, we summarize the outcome of studies on prenatal array-CGH, the clinical relevance of differences in detection rate and range as compared to standard karyotyping, and reflect on the future integration of new molecular techniques in the workflow of prenatal diagnosis.

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“…If other parties [68][69][70] then propose a broader test, this is essentially a plea for additional prenatal screening * , to be offered to women who already qualify for a (expensive and not entirely riskfree) chorion villus sampling or amniocentesis due to an elevated risk of having a child with Down syndrome. In the United States, where women without an elevated risk of having a child with Down syndrome (or a specific indication for prenatal diagnostic testing) who want to be tested can undergo a chorion villus sampling or amniocentesis 71 , this type of array screening could become available to all pregnant women (who can afford it).…”

Section: -67mentioning

confidence: 99%