Non‐invasive prenatal testing 10 years on

Chitty, Lyn S.

doi:10.1002/pd.6032

Cited by 4 publications

(3 citation statements)

References 34 publications

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“…Currently, NIPT is widely utilized in clinical routine screening for trisomy 21, trisomy 18, and trisomy 13 [6,7] , demonstrating high accuracy and specificity. However, there is a lack of consensus on the screening conclusions for sex chromosome abnormalities, leading to controversy over whether NIPT should be extended to routine screening for such abnormalities.…”

Section: Discussionmentioning

confidence: 99%

Analysis of the Detection Status of Non-Invasive Prenatal Testing in Sex Chromosome Abnormalities

Pi,

Duan,

Peng

et al. 2023

AOGR

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Objective: To analyze the detection efficiency of non-invasive prenatal tests (NIPT) in single fetus sex chromosome abnormalities and explore the application value of NIPT in sex chromosome diseases. Method: A total of 47,770 singleton pregnant women received free NIPT at Dongguan Maternity and Infant Clinic. Pregnant women with NIPT results indicating sex chromosome abnormalities provided informed consent for amniocentesis and subsequent karyotype analysis and/or multiplex ligation probe amplification (MLPA) technology. The study also involved telephone follow-ups on test results and pregnancy outcomes, along with a retrospective analysis of the positive detection rate of sex chromosome abnormalities by NIPT. Results: Among the 47,770 pregnant women, NIPT identified sex chromosome abnormalities in 158 cases, resulting in a detection rate of 0.33%. Of these cases, 113 pregnant women opted for amniocentesis, while 36 declined. One newborn, whose parents refused puncture, was later diagnosed with cryptorchidism. 8 cases failed to follow up. Among the 113 cases undergoing amniocentesis, 55 were diagnosed with sex chromosome abnormalities. These included 7 cases of X monosomy, 24 cases of sex chromosome trisomy (14 cases of Klinefelter syndrome; 5 cases of Jacobs syndrome; 5 cases of trisomy X), and 24 cases with sex chromosome microdeletions and microduplications. Meanwhile, 58 cases had no abnormalities. The overall positive predictive value (PPV) of NIPT testing for sex chromosome abnormalities was 48.67%, with specific PPVs for monosomy X, Klinefelter syndrome, Jacobs syndrome, trisomy X, and sex chromosome microdeletions and microduplications being 6.19%, 12.39%, 4.42%, 4.42%, and 21.24% respectively. Conclusion: NIPT demonstrates high detection efficiency in sex chromosome diseases. However, the efficiency varies significantly across different chromosomal abnormalities. Pregnant women with NIPT results indicating sex chromosome abnormalities should undergo amniocentesis for karyotype analysis and MLPA.

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Section: Discussionmentioning

confidence: 99%

Analysis of the Detection Status of Non-Invasive Prenatal Testing in Sex Chromosome Abnormalities

Pi,

Duan,

Peng

et al. 2023

AOGR

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“…The American College of Obstetrics and Gynecology (ACOG) recommends non-invasive prenatal screening for all women, regardless of maternal age ( American College of Obstetricians and Gynecologists’ Committee on Practice Bulletins—Obstetrics, 2020 ). In addition to detecting trisomies for chromosomes 21, 18, and 13 and sex chromosome aneuploidies, expanded NIPS tests based on a whole-genome assessment of cell-free DNA in maternal plasma are able to identify rare autosomal trisomies (RATs), known microdeletions/duplications, and rare copy number and structural variants ( Chitty, 2021 ). Recent reports in the literature describe and discuss the detection of marker chromosomes by NIPS ( Luo et al, 2020 ; Liehr, 2021 ).…”

Section: Discussionmentioning

confidence: 99%

Case Report: Prenatal Identification of a De Novo Mosaic Neocentric Marker Resulting in 13q31.1→qter Tetrasomy in a Mildly Affected Girl

Dharmadhikari

Pereira²,

Andrews³

et al. 2022

Front. Genet.

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Partial tetrasomy of distal 13q has a reported association with a variable phenotype including microphthalmia, ear abnormalities, hypotelorism, facial dysmorphisms, urogenital defects, pigmentation and skin defects, and severe learning difficulties. A wide range of mosaicism has been reported, which may, to some extent, account for the variable spectrum of observed phenotypes. We report here a pregnancy conceived using intrauterine insemination in a 32-year-old female with a history of infertility. Non-invasive prenatal screening (NIPS) was performed in the first trimester which reported an increased risk for trisomy 13. Follow-up cytogenetic workup using chorionic villus sampling (CVS) and amniotic fluid samples showed a mosaic karyotype with a small supernumerary marker chromosome (sSMC). Chromosomal microarray analysis (CMA) identified a mosaic 31.34 Mb terminal gain on chr13q31.1q34 showing the likely origin of the sSMC to distal chromosome 13q. Follow-up metaphase FISH testing suggested an inverted duplication rearrangement involving 13q31q34 in the marker chromosome and the presence of a neocentromere. At 21 months of age, the proband has a history of gross motor delay, hypotonia, left microphthalmia, strabismus, congenital anomaly of the right optic nerve, hemangiomas, and a tethered spinal cord. Postnatal chromosome analyses in buccal, peripheral blood, and spinal cord ligament tissues were consistent with the previous amniocentesis and CVS findings, and the degree of mosaicism varied from 25 to 80%. It is often challenging to pinpoint the chromosomal identity of sSMCs using banding cytogenetics. A combination of low-pass genome sequencing of cell-free DNA, chromosomal microarray, and FISH enabled the identification of the precise chromosomal rearrangement in this patient. This study adds to the growing list of clinically identified neocentric marker chromosomes and is the first described instance of partial tetrasomy 13q31q34 identified in a mosaic state prenatally. Since NIPS is now being routinely performed along with invasive testing for advanced maternal age, an increased prenatal detection rate for mosaic sSMCs in otherwise normal pregnancies is expected. Future studies investigating how neocentromeres mediate gene expression changes could help identify potential epigenetic targets as treatment options to rescue or reverse the phenotypes seen in patients with congenital neocentromeres.

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“…cffDNA is a small-sized fragmented DNA (<200 bp) of placental origin that accounts for 3–20% of maternal circulation DNA [ [15] , [16] , [17] , [18] , [19] ]. The amount of free fetal DNA varies throughout the pregnancy [ 2 ].…”

Section: Expanding Scope Of Non-invasive Prenatal Screeningmentioning

confidence: 99%

Reappraisal of evolving methods in non-invasive prenatal screening: Discovery, biology and clinical utility

Rather¹,

Saha

2023

Heliyon

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Non‐invasive prenatal testing 10 years on

Cited by 4 publications

References 34 publications

Analysis of the Detection Status of Non-Invasive Prenatal Testing in Sex Chromosome Abnormalities

Analysis of the Detection Status of Non-Invasive Prenatal Testing in Sex Chromosome Abnormalities

Case Report: Prenatal Identification of a De Novo Mosaic Neocentric Marker Resulting in 13q31.1→qter Tetrasomy in a Mildly Affected Girl

Reappraisal of evolving methods in non-invasive prenatal screening: Discovery, biology and clinical utility

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