Prenatal diagnostics has been impacted by technological changes in the past decade, which have affected the diagnostic yield. The aim of this study was to evaluate the impact of SNP array and noninvasive prenatal testing (NIPT) on the diagnostic yield and the number of invasive tests in our center. The frequency of pathogenic fetal unbalanced chromosome aberrations was studied in 10,005 cases referred for prenatal testing in 2009-2015. Chromosomal SNP microarray analysis replaced karyotyping in all invasively tested pregnancies and since 2014 a choice between NIPT and diagnostic testing with microarray was offered to women with an increased risk for common aneuploidy. The introduction of microarray led to an additional yield of submicroscopic pathogenic chromosome aberrations: 3.6% in fetuses with ultrasound anomalies and 1.9% in fetuses without ultrasound anomalies. The introduction of NIPT led to a decrease of invasive tests and of diagnostic yield. Moreover, a diagnostic delay in about 1:350 cases was observed. Since 20%-33% of pathogenic fetal chromosome aberrations are different from the common aneuploidies and triploidy, whole-genome analysis should be offered after invasive sampling. Because NIPT (as a second screening) has led to a decreased diagnostic yield, it should be accompanied by an appropriate pretest counseling.

The diagnosis of a SL did not seem to be a reason for termination of pregnancy. Most patients were able to cope with the uncertainty and were interested in both prenatal and postnatal actionability of SL. Long-term follow-up is crucial to assess the actual risks for neurodevelopmental disorders, especially in families with unremarkable history. © 2016 John Wiley & Sons, Ltd.

BackgroundPreterm birth is in quantity and in severity the most important contributor of perinatal morbidity and mortality both in well- and low-resource countries. Cervical pessary and cervical cerclage are both considered as preventive treatments in women at risk for preterm birth. We aim to evaluate whether a cervical pessary can replace cervical cerclage for preventing recurrent preterm birth in women with a prior preterm birth due to cervical insufficiency or in women with a prior preterm birth and a short cervix in the current pregnancy.Methods/designA nationwide open-label multicentre randomised clinical trial will be set up to study women with a singleton pregnancy and a prior preterm birth before 34 weeks of gestation. Women are eligible in case of previous preterm birth based on cervical insufficiency (primary intervention, <16 weeks) or in case of previous preterm birth and a short cervical length in current pregnancy ≤25 mm (secondary intervention, <24 weeks). Eligible women will be randomised to either cervical pessary or cervical cerclage. Both interventions will be removed at labour or at 36 weeks of gestational age, whatever comes first. The primary outcome will be delivery before 32 weeks. Secondary outcomes will be gestational age at birth, preterm birth rate before 24, 28, 34 and 37 weeks of gestation (overall and stratified by spontaneous or indicated delivery), premature rupture of membranes, use of tocolysis and/or corticosteroids during pregnancy, mode of delivery, maternal infections, maternal side effects, neonatal and maternal hospital admissions, and a composite of adverse perinatal outcomes including both morbidity and mortality. We assume an event rate of 20% preterm birth before 32 weeks for cerclage and use a non-inferiority margin of 10% for the cervical pessary. Using an alpha of 0.05 and power of 0.80 we need 2 groups of 200 women each.DiscussionThe outcome of this study will indicate the effectiveness and the cost-effectiveness of a cervical cerclage and of a cervical pessary.Trial registrationNetherlands Trial Registry, NTR 4415. Date registered: 29th of January 2014.Electronic supplementary materialThe online version of this article (doi:10.1186/s12884-017-1393-6) contains supplementary material, which is available to authorized users.

Acardiac twinning or TRAP-sequence is a rare complication of monochorionic twin pregnancy. We present a case in which fetal demise of one fetus of a twin pregnancy had been wrongly diagnosed in the first trimester as a vanishing twin. This resulted in the unexpected occurrence of an acardiac twin in the third trimester, culminating in an acardiac twin with a birth weight higher than that of the normal twin. A review is presented on therapeutic opportunities including ligation of the umbilical cord under ultrasound or fetoscopy. This case report highlights the need for correct and early ultrasonographic diagnosis of chorionicity and detailed ultrasonographic follow-up of twin pregnancies.

Methods: On 3rd June 2016 Embase and PubMed databases were systematically searched for all relevant articles on prevalence of pathogenic submicroscopic CNVs in fetuses tested due to advanced maternal age or parental anxiety. Relevant full text articles were analysed and based on the extracted data the prevalence of submicroscopic CNVs was calculated. Results: Meta-analysis was conducted in a pooled cohort of 10,614 fetuses based on the 10 largest studies (N > 300) of a total of 19 relevant studies. In 0.84%, 95%CI [0.55%, 1.30%] of fetuses a submicroscopic pathogenic aberration was detected prenatally. The onset/penetrance of the submicroscopic findings was studied in 10,314 fetuses out of 8 papers that presented aberrant cases with all necessary details. The prevalence of early onset syndromic disorders due to a submicroscopic aberration was calculated to be 1:270, based on 0.37%, 95%CI [0.27%, 0.52%] cases where aberrations were specified.Conclusions: This systematic review shows that a significant proportion of fetuses in a general pregnant population carry a submicroscopic pathogenic CNV. Based on these figures all women should be informed on their individual risk for all pathogenic chromosome aberrations and not only for common trisomies. P16.05The influence of chromosomal microarray and NIPT on the diagnostic yield in 6,811 high-risk pregnancies without ultrasound anomalies Objectives: Prenatal diagnostics has been impacted by technological changes in the past decade, which have affected the diagnostic yield. The aim of this study was to evaluate the impact of SNP array and non-invasive prenatal testing (NIPT) on the diagnostic yield and the number of invasive tests in our centre. Methods: The frequency of pathogenic fetal unbalanced chromosome aberrations was studied in 6811 high risk pregnancies without ultrasound anomalies referred for prenatal testing in 2009-2015 due to advanced maternal age, abnormal first trimester screening results (with nuchal translucency < 3.5mm) or recurrence risk for chromosome aberration. Chromosomal SNP microarray analysis replaced karyotyping in 2012 and since 2014 a choice between NIPT and diagnostic testing with microarray was offered to women with an increased risk for common aneuploidy (as a part of a national TRIDENT study). Results: The introduction of microarray led to an additional yield of submicroscopic pathogenic chromosome aberrations in 1.9% in fetuses without ultrasound anomalies. The introduction of NIPT led to a decrease of invasive tests, but also of the diagnostic yield. Conclusions: Since 33% of pathogenic fetal chromosome aberrations were different from the common aneuploidies and triploidy, whole genome analysis should be offered after invasive sampling. Because NIPT (as a second screening) has resulted in a decreased diagnostic yield it should be accompanied by an appropriate pre-test counselling in high risk pregnancies. Objectives: To examine whether combining the dichotomous assessment of the a-wave and the Ductus venosus (DV) PIV measurement improv...