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Introduction: The presence of an unbalanced familial translocation can be reliably assessed in the cytotrophoblast of chorionic villi. However, carriers of a balanced translocation often decline invasive testing. This study aimed to investigate whether an unbalanced translocation can also be diagnosed in cell free DNA by whole‐genome non‐invasive prenatal screening (NIPS). Material and methods: Pregnant women carrying a fetus with an unbalanced familial translocation, for whom NIPS as well as microarray data were available, were included in this retrospective assessment. NIPS was performed in the course of the TRIDENT study. Results: In 12 cases, both NIPS and microarray data were available. In 10 of 12 cases the unbalanced translocation was correctly identified by NIPS without prior knowledge on parental translocation. One was missed because the fetal fraction was too low. One was missed because of technical restrictions in calling 16p gains. Conclusions: This study supports the hypothesis that routine NIPS may be used for prenatal diagnosis of unbalanced inheritance of familial translocations, especially with prior knowledge of the translocation allowing focused examination of the involved chromosomal regions. Our study showed that routine shallow sequencing designed for aneuploidy detection in cell free DNA may be sufficient for higher resolution NIPS, if specialized copy number software is used and if sufficient fetal fraction is present. [ABSTRACT FROM AUTHOR]

Abstract Screening and diagnostic testing for detection of fetal aneuploidy has been an integral part of prenatal care for over three decades. The recent introduction of new technologies, such as cell free DNA (cfDNA) screening and preimplantation genetic screening, has created increased complexity for obstetrical care providers. Inconsistencies among the professional society recommendations have caused confusion and disparities in practice. As we work to responsibly incorporate new technologies, clear guidelines with consensus among relevant professional societies are needed. In January of 2017, a workshop was convened during the Society for Maternal-Fetal Medicine Pregnancy Meeting. Representatives from many stakeholder groups were present with the goal to develop a framework for introduction of new genetic tests into clinical practice. This paper provides consensus recommendations from this workshop on the use of existing prenatal screening and diagnostic testing for aneuploidy. [ABSTRACT FROM AUTHOR]

The aim of this study was to evaluate which chromosomal abnormalities in our cohort of foetuses with increased nuchal translucency (NT) in the first trimester of pregnancy could be detected by cell free (cf)DNA screening as well. There were 775 singleton pregnancies referred for cytogenetic testing due to an increased NT (≥3.0 mm). Chromosome aberrations were investigated using karyotyping or chromosomal microarray analysis (CMA). Karyotyping had been chosen for foetal cytogenetic testing by 446 patients, and CMA by 329 patients. Common aneuploidies (trisomies 21, 18, 13 and sex aneuploidies) were detected in 2.2% (99/446) and 1.8% (59/329) cases, respectively. In 329 with CMA testing, clinically significant copy number variations (CNVs) other than common aneuploidies were detected in 2.7% cases; among these, five had a pathogenic microscopic CNV, which could have been detected by karyotyping. There were four cases (1.2%) having a pathogenic submicroscopic CNV, which could have been missed by karyotyping. The total CMA detection rate (23.4%) was not statistically different from that (24.2%) by karyotyping (p > .05). The percentage of chromosomal aberrations, which cfDNA screening would miss in patients with increased NT in the first trimester, might be the same as in those with normal NT. Impact statement What is already known about this topic? First trimester NT is a powerful marker for screening for common aneuploidies. cfDNA screening is more accurate than any standard screening with NT. The need of NT in the era of prenatal screening using cfDNA is debated. What does this study add? An increased NT did not identify any additional aneuploidies that were detected by cfDNA screening. What are the implications of these findings for clinical practice and/or further research? The percentage of chromosomal aberrations which cfDNA screening would miss in patients with increased NT might be the same as in those with normal NT. [ABSTRACT FROM AUTHOR]

Obesity compromises all forms of genetic screening. Although the risk for fetal aneuploidy is not altered by obesity, the risk for significant birth defects is increased. Therefore, the obese gravida is at an increased risk of fetal malformations with a diminished ability to be screened effectively by all screening methods: ultrasound, traditional serum analyte screening, and cell-free DNA screening. This chapter outlines both the current options and limitations of screening in the obese gravida. The offering of screening and diagnostic testing should not be altered in obese women despite the compromises placed on accurate fetal assessment. [ABSTRACT FROM AUTHOR]

•Abnormal cell free DNA results may indicate occult maternal malignancy.•Cesarean-cytoreductive surgery is feasible even with significant disease burden.•Carboplatin/paclitaxel is first line for epithelial ovarian cancer in pregnancy.