An Overview on Prenatal Screening for Chromosomal Aberrations

Hixson, Lucas; Goel, Srishti; Schuber, Paul T.; Faltas, Vanessa; Lee, Jessica; Narayakkadan, Anjali; Leung, Ho Hang; Osborne, Jim

doi:10.1177/2211068214564595

Cited by 19 publications

(43 citation statements)

References 61 publications

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“…All invasive tests have advantages and disadvantages, which can be found elsewhere [16] and are in parts discussed below. Apart from standard GTG-banding, many other tests can be performed in fetal-derived cells, like molecular cytogenetic [17,18,19,20], molecular genetic [18,19,20,21,22], biochemical [16], or immunological tests [16], as well as tests for infections (Table 1). …”

Section: Introductionmentioning

confidence: 99%

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Noninvasive Prenatal Testing - When Is It Advantageous to Apply

et al. 2017

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Nowadays it is common sense in obstetrics that an increased risk for pregnancy loss due to invasive testing does not exist. Nonetheless, noninvasive prenatal testing (NIPT) is a hot topic, even though this approach does not provide a reduction of unintentionally induced abortions. NIPT has a number of shortcuts which are highlighted in this review, including: (1) in NIPT placental rather than fetal DNA is studied, (2) NIPT fails in 2-6% of cases, and (3) trisomy 21 accounts for only ∼50% of existing chromosomal aberrations. Thus, we agree with the literature that NIPT is a fascinating possibility to gain information on unborn life from minimal amounts of DNA. However, it remains a pure risk estimation test directed towards the detection of specific chromosomal abnormalities from peripheral blood of the pregnant woman. It is important to highlight that families buying this test, and getting a normal result, may be provided with a false sense of security. Thus, careful and comprehensive genetic counselling should be performed before the test is offered, and should include a clear explanation of the advantages and disadvantages, as well as limitations, compared to other methods.

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Section: Introductionmentioning

confidence: 99%

“…The best suited biochemical parameters to be determined from maternal peripheral blood were those which were applied for the so-called first-trimester screening test, i.e. pregnancy-associated plasma protein A and free β-human chorionic gonadotropin [16]. …”

Section: Introductionmentioning

confidence: 99%

Noninvasive Prenatal Testing - When Is It Advantageous to Apply

et al. 2017

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“…Thus, the rapid aneuploidy detection (RAD) methods are included in daily practice (4). Fluorescence in situ hybridization (FISH) was used for rapid detection initially.…”

Section: Introductionmentioning

confidence: 99%

QF-PCR in invasive prenatal diagnosis: a single-center experience in Turkey

Kaya¹,

Koç²,

Özdemir³

et al. 2017

Turk J Med Sci

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Background/aim: QF-PCR has been used for more than 20 years. It is based on investigation of polymorphic short tandem repeats (STRs) and is widely used for prenatal rapid aneuploidy detection. Materials and methods: We report retrospectively our prenatal diagnosis results between January 2012 and May 2014 in TepecikTraining and Research Hospital Genetic Diagnostic Center. Prenatal diagnosis was recommended in 6800 high-risk pregnancies and 2883 patients agreed to invasive diagnosis. Chromosome analysis and QF-PCR were performed in all patients.Results: Normal results were reported in 2711 cases by fetal karyotyping and in 2706 cases by QF-PCR. Anomaly detection rates were similar for the two methods (5.09% for karyotyping and 4.02% for QF-PCR). Conclusion:QF-PCR is a fast and reliable prenatal diagnosis method in all indication groups and may be preferred as the sole prenatal investigation in patients without fetal ultrasonographic findings.

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“…to Padmé Amidala that she was pregnant with twins (Leia and Luke Skywalker), instead with only a single child; this would be striking in a civilization being able to travel with more than light speed (1). Nowadays, here on earth, being far from laser swards and intergalactic traveling options, prenatal diagnostics is routine; it can be done invasively and non-invasively and went through many steps of developments, already (2). Apart from analyses of epidemiological data (like age, ethnicity or weight of mother), additional non-invasive and invasive tests can be offered to pregnant women.…”

Section: Introductionmentioning

confidence: 99%

“…To be mentioned as noninvasive options are ultrasonography, serum-screening and next generation screening for free placental DNA in maternal blood. According to the economic and ethno-cultural circumstances in which a baby is expected, different tests can be offered to the pregnant women and thus all mentioned tests are still applied and actual (2). Alpha-fetoprotein (AFP) concentrations can be determined from maternal serum (S-AFP), as a part of non-invasive settings, or from invasively acquired amnion fluid (AF-AFP).…”

Section: Introductionmentioning

confidence: 99%

Alpha-fetoprotein and its value for predicting pregnancy outcomes � a re-evaluation

Darouich

Liehr

Weise

et al. 2015

JPM

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Introduction: Alpha-fetoprotein (AFP) concentrations can be determined framing others from invasively acquired amnion fluid (AF-AFP). While the biological role of AFP remains unclear it is well known that AFP-levels can be altered in connection with specific clinical and/or genetic alterations of the fetus. Materials and Method: here a retrospective study based on 3,119 singleton and 56 twin pregnancies is presented. The standard levels of amnion fluid derived alpha-fetoprotein level (AF-AFP) between 12th and 36th weeks of gestation were determined. Additionally, acetylcholinesterase (AChE) test results for 63 cases, ultrasonography results for 32 cases and abnormal karyotypic findings for 100 cases were available for selected cases. Results and Discussion: according to the present data the AF-AFP test is reliable and provides ex-

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An Overview on Prenatal Screening for Chromosomal Aberrations

Cited by 19 publications

References 61 publications

Noninvasive Prenatal Testing - When Is It Advantageous to Apply

Noninvasive Prenatal Testing - When Is It Advantageous to Apply

QF-PCR in invasive prenatal diagnosis: a single-center experience in Turkey

Alpha-fetoprotein and its value for predicting pregnancy outcomes � a re-evaluation

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