Overview of Noninvasive Prenatal Testing (NIPT) for the Detection of Fetal Chromosome Abnormalities; Differences in Laboratory Methods and Scope of Testing

BENN, PETER; CUCKLE, HOWARD

doi:10.1097/grf.0000000000000803

Cited by 4 publications

(2 citation statements)

References 115 publications

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“…Accurate ultrasound dating of the pregnancy is crucial to increase the likelihood of sufficient cffDNA in maternal blood necessary for NIPT testing. Additionally, ultrasound evidence of structural abnormalities may indicate the need to forego screening and opt for invasive prenatal diagnosis (chorionic villus sampling or amniocentesis) [19].…”

Section: Introductionmentioning

confidence: 99%

Trisomy 21 with Maternally Inherited Balanced Translocation (15q;22q) in a Female Fetus: A Rare Case of Probable Interchromosomal Effect

De Falco,

Gambale,

Pinelli

et al. 2024

Cells

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Chromosomal rearrangements can interfere with the disjunction and segregation of other chromosome pairs not involved in the rearrangements, promoting the occurrence of numerical abnormalities in resulting gametes and predisposition to trisomy in offspring. This phenomenon of interference is known as the interchromosomal effect (ICE). Here we report a prenatal case potentially generated by ICE. The first-trimester screening ultrasound of the pregnant woman was normal, but the NIPT indicated a high risk for three copies of chromosome 21, thus suspecting trisomy 21 (T21). After a comprehensive clinical evaluation and genetic counseling, the couple decided to undergo amniocentesis. The prenatal karyotype confirmed T21 but also showed a balanced translocation between the long arm of chromosome 15 (q22) and the long arm of chromosome 22. The parents’ karyotypes also showed that the mother had the 15;22 translocation. We reviewed T21 screening methods, and we performed a literature review on ICE, a generally overlooked phenomenon. We observed that ours is the first report of a prenatal case potentially due to ICE derived from the mother. The recurrence risk of aneuploidy in the offspring of translocated individuals is likely slightly increased, but it is not possible to estimate to what extent. In addition to supporting observations, there are still open questions such as, how frequent is ICE? How much is the aneuploidy risk altered by ICE?

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Section: Introductionmentioning

confidence: 99%

Trisomy 21 with Maternally Inherited Balanced Translocation (15q;22q) in a Female Fetus: A Rare Case of Probable Interchromosomal Effect

De Falco,

Gambale,

Pinelli

et al. 2024

Cells

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“…14 Indeed, as explained by Benn and Cuckle, the method of NIPT can be an important consideration for screening for sex chromosome abnormalities, microdeletion syndromes, triploidy, molar pregnancies, rare autosomal trisomies, and segmental imbalances. 21 4) When the first three points were assessed, and according to the appearance of the ovaries on ultrasound examination, hGCβ and total hCG controls may help exclude maternal malignancy.…”

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confidence: 99%

Very elevated hCGβ (≥10 multiple of the median) in maternal marker screening for Down syndrome: Frequency, etiologies, outcomes, and guidelines

Dreux,

Rosenblatt,

Massardier

et al. 2024

Prenatal Diagnosis

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AimThis aim of this study was to detail maternal and fetal anomalies observed on a national scale in a large French cohort of patients presenting high hCG values (≥10 multiple of the median [MoM]) at Down syndrome screening in order to define clear and optimal guidelines.MethodsThis is a retrospective multicenter study based on a French annual database of all trisomy 21 screenings. Our study targeted and studied cases with hCG or hCGβ values ≥10 MoM. Complementary exams and outcomes were analyzed.ResultsThe calculated frequency was 0.05% for hCGβ ≥10 MoM in unselected patients. For this series of 289 cases, a complication of the pregnancy or a poor outcome was observed in 145 cases (51%) as follows: 96 (66%) cases of fetal disease, 23 (16%) of maternal disease, 5 (3.5%) of placental anomalies and 21 (14.5%) of systemic disease concerning mother, fetus and placenta.ConclusionThis study establishes the frequency of hCG or hCGβ values ≥10 MoM, presents a flow chart that optimizes follow‐up, and gives clear information for patients presenting with such abnormal values at trisomy 21 screening.

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Accuracy of fetal fraction measurements in a single‐nucleotide polymorphism‐based noninvasive prenatal test

Benn,

Zhang,

Lyons

et al. 2024

Prenatal Diagnosis

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BackgroundNoninvasive prenatal testing (NIPT) for fetal aneuploidy relies on the analysis of fetoplacental cell‐free DNA (cfDNA) found in maternal plasma. A minimum cfDNA fetal fraction (FF) is required for reliable test performance, but some methods may have suboptimal accuracy for FF measurement. This study investigated the accuracy of a single‐nucleotide polymorphism‐ (SNP‐) based NIPT method to assess FF.MethodsFF measurements using SNP‐based NIPT in consecutive samples from singleton male pregnancies were compared with FF measured using a “gold standard” Y‐chromosome method.ResultsIn a cohort of 106,846 samples, the SNP‐based FF method showed a standard deviation (SD) of 0.42%. Compared to the Y chromosome FF method, a correlation coefficient, r, of 0.995, and bias of 0.17% were observed. The SD was not substantially different across specific FF ranges or for samples with high‐risk NIPT results.ConclusionsThe SNP‐based NIPT method estimates FF with good accuracy, with a SD three to eight times better than other NIPT methods (0.42% vs. 1.3%–3.4%). FF is an important quality control parameter and should be routinely reported as part of NIPT.

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Overview of Noninvasive Prenatal Testing (NIPT) for the Detection of Fetal Chromosome Abnormalities; Differences in Laboratory Methods and Scope of Testing

Cited by 4 publications

References 115 publications

Trisomy 21 with Maternally Inherited Balanced Translocation (15q;22q) in a Female Fetus: A Rare Case of Probable Interchromosomal Effect

Trisomy 21 with Maternally Inherited Balanced Translocation (15q;22q) in a Female Fetus: A Rare Case of Probable Interchromosomal Effect

Very elevated hCGβ (≥10 multiple of the median) in maternal marker screening for Down syndrome: Frequency, etiologies, outcomes, and guidelines

Accuracy of fetal fraction measurements in a single‐nucleotide polymorphism‐based noninvasive prenatal test

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