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Objective: One goal of prenatal genetic screening is to optimize perinatal care and improve infant outcomes. We sought to determine whether high-risk cfDNA screening for 22q11.2 deletion syndrome (22q11.2DS) affected prenatal or neonatal management., Methods: This was a secondary analysis from the SMART study. Patients with high-risk cfDNA results for 22q11.2DS were compared with the low-risk cohort for pregnancy characteristics and obstetrical management. To assess differences in neonatal care, we compared high-risk neonates without prenatal genetic confirmation with a 1:1 matched low-risk cohort., Results: Of 18,020 eligible participants enrolled between 2015 and 2019, 38 (0.21%) were high-risk and 17,982 (99.79%) were low-risk for 22q11.2DS by cfDNA screening. High-risk participants had more prenatal diagnostic testing (55.3%; 21/38 vs. 2.0%; 352/17,982, p < 0.001) and fetal echocardiography (76.9%; 10/13 vs. 19.6%; 10/51, p < 0.001). High-risk newborns without prenatal diagnostic testing had higher rates of neonatal genetic testing (46.2%; 6/13 vs. 0%; 0/51, P < 0.001), echocardiography (30.8%; 4/13 vs. 4.0%; 2/50, p = 0.013), evaluation of calcium levels (46.2%; 6/13 vs. 4.1%; 2/49, P < 0.001) and lymphocyte count (53.8%; 7/13 vs. 15.7%; 8/51, p = 0.008)., Conclusions: High-risk screening results for 22q11.2DS were associated with higher rates of prenatal and neonatal diagnostic genetic testing and other 22q11.2DS-specific evaluations. However, these interventions were not universally performed, and >50% of high-risk infants were discharged without genetic testing, representing possible missed opportunities to improve outcomes for affected individuals., (© 2023 The Authors. Prenatal Diagnosis published by John Wiley & Sons Ltd.)

Objective: Traditional obstetric practice relies upon history-based assessment to screen for preeclampsia and guide preventative therapies but is hampered by low sensitivity, high false-positive rates and low treatment rates. First-trimester screening algorithms represent the most efficacious approach for risk prediction and could target early initiation of aspirin to well-defined high-risk populations. A large randomised controlled trial has demonstrated the clinical benefits of this approach, but widespread practice implementation has remained elusive., Methods: We performed a systematic review and meta-analysis summarising studies linking first-trimester preeclampsia screening algorithms with the initiation of preventative therapy and examined their effect on pre-term preeclampsia rates compared with standard maternity care. Odds ratios were calculated together with 95% confidence intervals., Results: 7 studies with a total of 377,790 participants were included. Within singleton populations, early initiation of aspirin in response to a high-risk screening algorithm result reduced the prevalence of pre-term preeclampsia by 39% compared with routine antenatal care (odds ratio 0.61; 95% CI: 0.52-0.70). There were significant reductions in the prevalence of preeclampsia at <32-34 weeks, preeclampsia at any gestation and stillbirth., Conclusion: First-trimester screening algorithms for preeclampsia aligned with early initiation of preventative therapy with aspirin reduce the prevalence of pre-term preeclampsia., (© 2023 The Authors. Prenatal Diagnosis published by John Wiley & Sons Ltd.)

Objective: To evaluate time of diagnosis of 22q11.2 deletion and 22q11.2 duplication as well as trisomies 21, 13, and 18 before and after introduction of a prenatal screening program including combined first-trimester screening (cFTS) for the trisomies in Denmark in 2004., Method: Cross-sectional, population-based register study employing The Danish Cytogenetic Central Register. Proportions of cases diagnosed 1998-2004 and 2005-2017 were compared before 14 +0 and 22 +0 weeks and birth (prenatal cases) or up to 1 or 10 years of age (postnatal cases)., Results: In total, 4562 cases were included. From 1998-2004 to 2005-2017, the proportion of 22q11.2 deletion cases identified prenatally increased from 4.3% (95% CI: 0.9-12.0%) to 27.3% (21.2-34.0%), while for 22q11.2 duplication an increase from 0/6 to 26/87 (prenatal cases/all cases) was observed. Similarly, proportions of trisomies 21, 13, and 18 detected before birth increased. A greater proportion of the studied conditions was identified earlier in pregnancy, but not generally earlier in the postnatal course., Conclusion: Proportions of 22q11.2 deletion and 22q11.2 duplication identified prenatally increased after introduction of a prenatal screening program not aimed specifically to identify these conditions,. A greater proportion of all cases were detected earlier in pregnancy, but not earlier postnatally, following introduction of screening., (© 2020 John Wiley & Sons Ltd.)

Objective: The aim of this study was to (1) examine the psychological impact of non-invasive prenatal testing (NIPT) in women with a high-risk (≥1 : 300) and low-risk (≤1 : 301) result on combined first trimester screening (cFTS) and (2) to examine factors influencing anxiety and decision-making in both risk populations., Method: Questionnaires and structured interviews were administered to low (n = 50) and high (n = 63) risk women at the time of NIPT blood draw (point A) and again at least 1 week after receiving their NIPT result (point B). Anxiety levels were measured at these two time points using the State-Trait Anxiety Inventory., Results: Both high-risk and low-risk cFTS groups demonstrated similar intrinsic (trait) anxiety levels (36 ± 10 vs 35 ± 10; p = 0.70). High-risk women had significantly higher levels of state anxiety at point A than low-risk women (42 ± 11 vs 36 ± 11; p < 0.01). Both groups had a statistically significant reduction (p < 0.01), to similar final levels of state anxiety at point B (30 ± 11 vs 29 ± 8; p = 0.61)., Conclusion: Women receiving a high-risk result on cFTS have higher levels of state anxiety than their low-risk counterparts. Following a low-risk NIPT result, the anxiety levels in both populations are reduced to similar levels. © 2017 John Wiley & Sons, Ltd., (© 2017 John Wiley & Sons, Ltd.)

Objective: To describe the distribution of the fetal nuchal translucency thickness (NT) according to type of chromosomal aberration in a large unselected population., Methods: Data on pregnancies with an NT measurement performed at gestational age 11 + 3 - 13 + 6 weeks from 2008 to 2011 were retrieved from the Danish National Fetal Medicine Database. Information on any genetic analysis for aneuploidy performed pre- or postnatally was also obtained. The abnormal results were grouped into 14 types of chromosomal anomalies. Distributions of NT measurements were summarized by aberration and compared with the normal/no karyotype group., Results: A total of 215 223 singleton pregnancies were included in the cohort; 10548 had a normal karyotype and 1286 had an aberration. Plots of the NT measurements showed that like trisomy 21, 18 and 13 and monosomy X, the distribution for the unbalanced translocations was shifted towards larger NTs. The distributions for the balanced translocations, the uncommon trisomies and the triploidies more closely resembled that of the normal/no karyotype population., Conclusion: Fetuses with aneuploidies have NT distributions visually different from normal fetuses, with the exception of triploidies and uncommon autosomal trisomies. The distributions differ in shape according to type of chromosomal anomaly. © 2015 John Wiley & Sons, Ltd., (© 2015 John Wiley & Sons, Ltd.)

Intra-abdominal masses and cystic lesions are not commonly identified during the routine 20-week anomaly scan but are not infrequently seen as incidental findings during a third trimester scan assessing fetal growth and well being. This review looks at the potential differential diagnosis of masses and cysts seen prenatally and aims to define a method of assessment that will help limit the differential diagnosis before delivery.

Increased nuchal translucency is the strongest single marker for chromosomal abnormality. Consequently, it is currently becoming established as the foundation of most early screening programmes for Down syndrome. In the absence of chromosomal abnormality, increased nuchal translucency has been shown to be associated with other congenital anomalies including cardiac defects. Several datasets have now reported this association and here these are reviewed to assess the effectiveness of nuchal translucency measurement as a screening tool for the prenatal detection of congenital heart disease., (2004 John Wiley & Sons, Ltd.)

We have evaluated the role of a rapid and radical method of amniodrainage in the treatment of severe twin-twin transfusion. The outcome of 15 patients with severe twin-twin transfusion for which a amniodrainage was performed by means of a vacuum bottle system was compared with the outcome of 15 patients with a similar condition, matched for gestational age at the time of the initial procedure and drained using a standard procedure. In the study group the amniodrainage ended when no amniotic fluid could be aspirated, whereas the women in the standard group were drained with a syringe system and the fluid was removed until the deepest amniotic fluid pool was <8 cm. At the initial procedure, the mean volume of amniotic fluid drained was significantly (p<0.05) higher (3252 vs 2153 ml) and the length of the procedure significantly (p<0.001) shorter (21 vs 41 min) in the study group than in the standard group. The mean post-procedure amniotic fluid index was significantly (p<0.001) smaller (2.9 vs 7.7 cm) after radical amniodrainage than after the standard amniodrainage. The mean number of procedures was significantly (p<0.001) lower (1.5 vs 5.6) in the study group compared to the standard group. In the study group the mean placental thickness increased significantly (p<0.001) from 9 mm before the procedure to 49 mm after, and the overall perinatal survival rate was 80% and the proportion of pregnancies with at least one survivor was 93%. The present data indicate that early, rapid and radical amniodrainage is an effective and low-cost therapy for severe twin-twin transfusion syndrome. Compared to the standard amniodrainage technique it also appears to reduce the need for multiple procedures., (Copyright 2001 John Wiley & Sons, Ltd.)