Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA

Zhang, Jinglan; Li, Jianli; Saucier, Jennifer; Feng, Yanming; Jiang, Yanjun; Sinson, Jefferson; McCombs, Anne K.; Schmitt, Éric; Peacock, Sandra; Chen, Stella; Dai, Hongzheng; Ge, Xiaoyan; Wang, Guoli; Shaw, Chad A.; Mei, Hui; Breman, Amy M.; Xia, Fan; Yang, Yaping; Purgason, Anne; Pourpak, Alan; Zhao, Chen; Wang, Xia; Wang, Yue; Kulkarni, Shashikant; Choy, Kwong Wai; Wapner, Ronald J.; Veyver, Ignatia B. Van den; Beaudet, Arthur L.; Parmar, Sheetal; Wong, Lee‐Jun C.; Eng, Christine M.

doi:10.1038/s41591-018-0334-x

Cited by 171 publications

(186 citation statements)

References 29 publications

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“…In recent years, noninvasive prenatal diagnosis (NIPD) for identifying paternally inherited or de novo alleles appears to be an alternative to invasive tests in fetuses with suspicion of specific skeletal dysplasias. The detection of the mutation in maternal plasma provides definitive diagnosis of an affected fetus.…”

Section: Monogenic Disordersmentioning

confidence: 99%

Genetic syndromes associated with isolated fetal growth restriction

2020

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Early onset fetal growth restriction (FGR) may be due to impaired placentation, environmental or toxic exposure, congenital infections or genetic abnormalities. Remarkable research, mainly based on retrospective series, has been published on the diverse genetic causes. Those have become more and more relevant with the improvement in the accuracy of the analysis techniques and the rising of breakthrough genomewide methods such as the whole genome sequencing. However, no publication has presented an integrated view of management of those fetuses with an early and severe affection. In this review, we explored to which extent genetic syndromes can cause FGR fetuses without structural defects. The most common chromosomal abnormalities (Triploidies and Trisomy 18), submicroscopic chromosomal anomalies (22q11.2 microduplication syndrome) and single gene disorders (often associated with mild ultrasound findings) related to early and severe FGR had been analysed. Finally, we addressed the impact of epigenetic marks on fetal growth, a matter of growing importance. At the end of this review, we should be able to provide an adequate counseling to parents in terms of diagnosis, prognosis and management of those pregnancies.

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Section: Monogenic Disordersmentioning

confidence: 99%

Genetic syndromes associated with isolated fetal growth restriction

2020

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“…The first report uses an NGS approach to screen 422 pregnancies for pathogenic or likely pathogenic variants in 30 genes associated with dominant monogenic disorders that can lead to significant adverse outcomes, including skeletal dysplasias, Noonan spectrum disorders, Rett syndrome and many others . Positive results were reported in 35 cases, of which 31 had an abnormal ultrasound scan and four a positive paternal history.…”

Section: Non‐invasive Prenatal Diagnosis and Screening For Monogenic mentioning

confidence: 99%

“…17 Both of these papers described NIPD in pregnancies at known increased risk; however, 2019 saw the publication of two papers describing the screening of low-risk pregnancies for monogenic disorders. 18,19 These papers have been used to support at least three commercial companies launching platforms publicly available for screening pregnancies at general risk for monogenic disorders.…”

Section: Non-invasive Prenatal Diagnosis and Screening For Monogenimentioning

confidence: 99%

In case you missed it: The Prenatal Diagnosis editors bring you the most significant advances of 2019

et al. 2020

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“… Noninvasive prenatal diagnosis (NIPD) has extended the potential applications to dominant monogenic disorders, which is confined to the detection of de novo and paternal pathogenic variants . However, NIPD of recessive monogenic disorders is still at the laboratory research stage. Relative mutation dosage analysis (RMD) and relative haplotype dosage analysis (RHDO) are two main strategies for NIPD of recessive monogenic disorders .…”

Section: Introductionmentioning

confidence: 99%

“…7 The NIPT of fetal aneuploidies is widely adopted as a prenatal screening method in clinical practice .8 More recently, NIPT has also been available for certain genomic microdeletions and microduplications .9 Noninvasive prenatal diagnosis (NIPD) has extended the potential applications to dominant monogenic disorders, which is confined to the detection of de novo and paternal pathogenic variants . [10][11][12] However, NIPD of recessive Lianshu Han and Chao Chen contributed equally to this work. monogenic disorders is still at the laboratory research stage.…”

Section: Introductionmentioning

confidence: 99%

Noninvasive prenatal diagnosis of cobalamin C (cblC) deficiency through target region sequencing of cell‐free DNA in maternal plasma

et al. 2019

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Objective This study aimed to validate the feasibility of haplotype‐based noninvasive prenatal diagnosis (NIPD) of cobalamin C (cblC) deficiency. Method This method includes three steps: First, targeted sequencing was performed on 21 families affected by cblC deficiency (including the couples and probands). Second, parental haplotypes linked with the pathogenic variant were determined using the genotypes of trios. Then, the fetal haplotypes were inferred through a parental haplotype assisted hidden Markov model (HMM). The NIPD results were confirmed by using the invasive procedures. Results Twenty‐one fetal genotypes were successfully inferred by NIPD including three compound heterozygotes with cblC deficiency, nine heterozygote carriers of cblC deficiency, and nine normal fetuses. The NIPD results were confirmed using the invasive procedures with 100% concordant rate. Conclusion This result has shown that haplotype‐based NIPD of cblC deficiency has high concordant rate and indicated potential clinical utility as a pregnancy diagnosis method for high‐risk carrier couples.

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Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA

Cited by 171 publications

References 29 publications

Genetic syndromes associated with isolated fetal growth restriction

Genetic syndromes associated with isolated fetal growth restriction

In case you missed it: The Prenatal Diagnosis editors bring you the most significant advances of 2019

Noninvasive prenatal diagnosis of cobalamin C (cblC) deficiency through target region sequencing of cell‐free DNA in maternal plasma

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