The Evolution of Prenatal Diagnosis from Invasive Procedures to Non-invasive Prenatal Testing (NIPT)

AbstractThere is a problem with the current nomenclature of prenatal evaluation. The current nomenclature of “prenatal testing” and “prenatal screening” – along with their subsets of “ultrasound testing,” “ultrasound screening,” “non-invasive prenatal testing,” “non-invasive prenatal screening,” and “prenatal diagnosis” – has become so imprecise that clinical misinterpretation and distortion of the informed consent process are increasingly difficult to avoid. To remedy this problem, we propose a new, precise nomenclature: “fetal analysis with invasive method” (FA-I) and “fetal analysis with non-invasive method,” (FANI) using various techniques. This new nomenclature is designed to be precise and therefore facilitate effective communication among physicians and with pregnant women. For ease of use the new nomenclature can be formulated as an abbreviation: FA-I and FA-NI.

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Trends in Invasive Prenatal Diagnosis: Effect of Sequential Screening and Noninvasive Prenatal Testing

Fetal Diagnosis and Therapy ◽

10.1159/000441028 ◽

2015 ◽

Vol 39 (4) ◽

pp. 292-296 ◽

Cited By ~ 10

Author(s):

Adeeb Khalifeh ◽

Stuart Weiner ◽

Vincenzo Berghella ◽

Alan Donnenfeld

Keyword(s):

Prenatal Diagnosis ◽

Chorionic Villus ◽

Prenatal Testing ◽

Chorionic Villus Sampling ◽

Invasive Procedures ◽

Noninvasive Prenatal Testing ◽

Sequential Screening ◽

Period 2 ◽

Prenatal Diagnostic ◽

The Impact

Objective: To examine trends in the incidence and method of invasive prenatal diagnosis due to the impact of sequential screening and noninvasive prenatal testing. Methods: This is a retrospective review of all pregnancies that have undergone invasive prenatal diagnostic testing between June 2002 and June 2014, divided in 3 periods: period 1 from June 2002 to October 2006, period 2 from November 2006 to December 2011, and period 3 from January 2012 to June 2014. The main outcome measures were trends in the incidence and method of each procedure. Results: There were 88,135 deliveries and 6,080 invasive procedures during the study period. In period 1, 2,755 (8.8%) procedures were carried out, in period 2 2,820 (7.3%), and in period 3 505 (2.5%; p < 0.01). In period 1, there were 1,990 (6.3%) cases of amniocentesis, 1,646 (4.3%) in period 2, and 254 (1.2%) in period 3 (p < 0.01). In addition, in 765 (2.5%) cases, chorionic villus sampling (CVS) was performed in period 1, compared to 1,174 (3.0%) cases in period 2 and 251 (1.3%) cases in period 3 (p < 0.01). Advanced maternal age as the sole indication for invasive procedures decreased significantly over time, while the indication of abnormal serum screening and abnormal ultrasound findings increased (p < 0.01). Conclusion: There was a significant decline in the incidence of invasive prenatal testing over the 12 years of the study. The decrease in amniocentesis was more marked than that in CVS.

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Declining Rate of Invasive Procedures for Prenatal Diagnosis in the Era of Noninvasive Prenatal Testing

Obstetrics and Gynecology ◽

10.1097/01.aog.0000447226.06195.ee ◽

2014 ◽

Vol 123 ◽

pp. 196S-197S ◽

Cited By ~ 3

Author(s):

Aaron L. Turner ◽

Steve Rad ◽

Yalda Afshar ◽

Paola Aghajanian ◽

John Williams ◽

...

Keyword(s):

Prenatal Diagnosis ◽

Prenatal Testing ◽

Invasive Procedures ◽

Noninvasive Prenatal Testing

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437: Trends in invasive prenatal diagnosis from 2002-2014: effect of sequential screening and non-invasive prenatal testing (NIPT)

American Journal of Obstetrics and Gynecology ◽

10.1016/j.ajog.2014.10.483 ◽

2015 ◽

Vol 212 (1) ◽

pp. S226

Author(s):

Adeeb Khalifeh ◽

Stuart Weiner ◽

Vincenzo Berghella ◽

Alan Donnenfeld

Keyword(s):

Prenatal Diagnosis ◽

Prenatal Testing ◽

Non Invasive ◽

Sequential Screening

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Second tier non-invasive prenatal testing in a regional prenatal diagnosis service unit: a retrospective analysis and literature review

10.12809/hkmj198197 ◽

2020 ◽

Author(s):

Vivian KS Ng ◽

Avis L Chan ◽

WL Lau ◽

WC Leung

Keyword(s):

Prenatal Diagnosis ◽

Literature Review ◽

Retrospective Analysis ◽

Prenatal Testing ◽

Service Unit ◽

Non Invasive ◽

Second Tier

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A method for non-invasive prenatal diagnosis of monogenic autosomal recessive disorders

10.1101/635342 ◽

2019 ◽

Author(s):

Anthony Cutts ◽

Dimitrios V. Vavoulis ◽

Mary Petrou ◽

Frances Smith ◽

Barnaby Clark ◽

...

Keyword(s):

Prenatal Diagnosis ◽

Predictive Value ◽

Autosomal Recessive ◽

Prenatal Testing ◽

Relative Number ◽

Maternal Plasma ◽

Autosomal Recessive Disorders ◽

Non Invasive ◽

Clinical Scenarios ◽

Recessive Disorders

AbstractNon-invasive prenatal testing (NIPT) to date is used in the clinic primarily to detect foetal aneuploidy. Few studies so far have focused on the detection of monogenic autosomal recessive disorders where mother and foetus carry the same mutation. In particular, NIPT is currently not available for the detection of Sickle Cell Anaemia (SCA), the most common monogenic disorder world-wide and the most common indication for invasive prenatal testing in high-income countries. Here, we report the clinical validation of a novel diagnostic approach that combines ultra-sensitive amplicon-based sequencing of cell-free DNA (cfDNA) with internal controls and bias factor correction to calculate the probability for the presence of allelic imbalance from maternal plasma without prior knowledge of the paternal genotype. Identification of the foetal genotype was determined using a hierarchical probabilistic model based on the relative number of reads from the sequencing, along with the foetal fraction. NIPT was performed on a cohort of 57 patients, all of whom had previously undergone invasive prenatal testing so that the foetal genotype was known. Overall, NIPT demonstrated 100% sensitivity and negative predictive value for foetal fractions higher than 0.5%, and 100% specificity and positive predictive value for foetal fractions higher than or equal to 4%. Our methodology can be used as a safe, non-invasive screening tool in any clinical scenarios where early prenatal diagnosis of SCA or other recessive disorders is important.

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