Increasingly, high-risk pregnant women opt for non-invasive prenatal testing (NIPT) instead of invasive diagnostic testing. Since NIPT is less accurate than invasive testing, a normal NIPT result ...might leave women less reassured. A questionnaire study was performed among pregnant women with elevated risk for fetal aneuploidy based on first-trimester combined test (risk ≥1:200) or medical history, who were offered NIPT in the nationwide Dutch TRIDENT study. Pre- and post-test questionnaires (
n
= 682) included measures on: experiences with NIPT procedure, feelings of reassurance, anxiety (State-Trait Anxiety Inventory, STAI), child-related anxiety (PRAQ-R), and satisfaction. The majority (96.1%) were glad to have been offered NIPT. Most (68.5%) perceived the waiting time for NIPT results (mean: 15 days, range 5–32) as (much) too long. Most women with a normal NIPT result felt reassured (80.9%) or somewhat reassured (15.7%). Levels of anxiety and child-related anxiety were significantly lower after receiving a normal NIPT result as compared to the moment of intake (
p
< 0.001). Women with inadequate health literacy or a medical history (e.g. previous child with trisomy) experienced significantly higher post-test-result anxiety (Mean (M) STAI = 31.6 and 30.0, respectively) compared to those with adequate health literacy (M = 28.6) and no medical history (M = 28.6), indicating these women might benefit from extra information and/or guidance when communicating NIPT test-results. Introducing NIPT as an alternative to invasive testing, led to an offer that satisfied and largely reassured high-risk pregnant women.
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FZAB, GEOZS, GIS, IJS, IMTLJ, KILJ, KISLJ, MFDPS, NLZOH, NUK, OBVAL, OILJ, PNG, SAZU, SBCE, SBJE, SBMB, SBNM, UKNU, UL, UM, UPUK, VKSCE, VSZLJ, ZAGLJ
Please cite this paper as: Scheffer P, van der Schoot C, Page‐Christiaens G, de Haas M. Noninvasive fetal blood group genotyping of rhesus D, c, E and of K in alloimmunised pregnant women: evaluation ...of a 7‐year clinical experience. BJOG 2011;118:1340–1348.
Objective To evaluate the diagnostic performance of noninvasive fetal blood group genotyping.
Design Descriptive analysis.
Setting Dutch national reference laboratory for pregnancies complicated by alloimmunisation.
Population All consecutive alloimmunised pregnant women for whom fetal blood group genotyping of rhesus D, c, E or of K in maternal plasma was performed from 2003 up to 2010.
Methods The test results of each individual assay were collected. Real‐time polymerase chain reaction was performed for RHD exon 5 and RHD exon 7, or the specific allele of the RHCE or KEL gene. A stringent diagnostic algorithm was applied. In the case of a negative result, the presence of fetal DNA was ascertained by the analysis of the Y chromosome‐specific SRY gene or other paternal genetic markers. Results were compared with available serology after birth or genotyping results of amniotic fluid cells.
Main outcome measures Percentage of conclusive test results and diagnostic accuracy.
Results A total of 362 tests was performed (D: n = 168; c: n = 49; E: n = 85; K: n = 60). The median gestational age was 17 weeks (range 7–38 weeks). In 351 women (97%), a test result was issued: in seven samples, the presence of fetal DNA could not be confirmed; in two samples, non‐specific amplification in the K assay led to an inconclusive result; in two samples, a maternal silent RHD gene prevented fetal RHD genotyping. No false‐positive or false‐negative results were found among those women for whom cord blood serology or genotyping results of amniotic fluid cells were available (n = 212).
Conclusions Noninvasive fetal blood group genotyping is accurate and applicable in a clinical diagnostic setting.
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BFBNIB, FZAB, GIS, IJS, KILJ, NLZOH, NUK, OILJ, SAZU, SBCE, SBMB, UL, UM, UPUK
The practice of prenatal screening is undergoing important changes as a result of the introduction of genomic testing technologies at different stages of the screening trajectory. It is expected that ...eventually it will become possible to routinely obtain a comprehensive ‘genome scan’ of all fetuses. Although this will still take several years, there are clear continuities between present developments and this future scenario. As this review shows, behind the still limited scope of screening for common aneuploidies, a rapid widening of the range of conditions tested for is already taking shape at the invasive testing stage. But the continuities are not just technical; they are also ethical. If screening for Down's syndrome is a matter of providing autonomous reproductive choice, then why would providing the choice to have a full fetal genome scan be something entirely different? There is a clear need for a sustainable normative framework that will have to answer three challenges: the indeterminateness of the autonomy paradigm, the need to acknowledge the future child as an interested stakeholder, and the prospect of broad‐scope genomic prenatal screening with a double purpose: autonomy and prevention.
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BFBNIB, FZAB, GIS, IJS, KILJ, NLZOH, NUK, OILJ, SAZU, SBCE, SBMB, UL, UM, UPUK
Please cite this paper as: Scheffer P, Ait Soussan A, Verhagen O, Page‐Christiaens G, Oepkes D, de Haas M, van der Schoot C. Noninvasive fetal genotyping of human platelet antigen‐1a. BJOG ...2011;118:1392–1395.
We describe a reliable noninvasive fetal human platelet antigen (HPA)‐1a genotyping assay on a real‐time polymerase chain reaction (PCR) platform using cell‐free fetal DNA isolated from maternal blood. Nonspecific amplification of maternal cell‐free DNA is overcome by pre‐PCR digestion of the cell‐free DNA with the Msp1 restriction enzyme. Noninvasive fetal HPA‐1a genotyping offers a safe method for alloimmunised pregnant women to determine whether their fetus is at risk of fetal or neonatal alloimmune thrombocytopenia (FNAIT) and whether interventions to prevent intracranial haemorrhage are required. The availability of this test is relevant to the ongoing debate on screening pregnancies for HPA‐1a‐mediated FNAIT.
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BFBNIB, FZAB, GIS, IJS, KILJ, NLZOH, NUK, OILJ, SAZU, SBCE, SBMB, UL, UM, UPUK
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