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Hot Topics of the Day are picked by experts to capture the latest information and publications on public health genomics and precision health for various diseases and health topics. Sources include published scientific literature, reviews, blogs and popular press articles.

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14 hot topic(s) found with the query "Pregnancy loss"

Cell-free fetal DNA for genetic evaluation in Copenhagen Pregnancy Loss Study (COPL): a prospective cohort study
TS Hartwig et al, The Lancet, February 2, 2023 (Posted: Feb-03-2023 7AM)

The cffDNA-based test had a sensitivity for aneuploidy detection of 85% (95% CI 79–90) and a specificity of 93% (95% CI 88–96) compared with direct sequencing of the pregnancy tissue. Among 1000 cffDNA-based test results, 446 (45%) were euploid, 405 (41%) aneuploid, 37 (4%) had multiple aneuploidies, and 112 (11%) were inconclusive. This validation of cffDNA-based testing in pregnancy loss shows the potential and feasibility of the method to distinguish euploid and aneuploid pregnancy loss for improved clinical management and benefit of future reproductive medicine and women's health research.

Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death.
Byrne Alicia B et al. Nature medicine 2023 1 (Posted: Jan-20-2023 6AM)

Pregnancy loss and perinatal death are devastating events for families. We assessed ‘genomic autopsy’ as an adjunct to standard autopsy for 200?families who had experienced fetal or newborn death, providing a definitive or candidate genetic diagnosis in 105?families. Our cohort provides evidence of severe atypical in utero presentations of known genetic disorders and identifies novel phenotypes and disease genes. Inheritance of 42% of definitive diagnoses were either autosomal recessive (30.8%), X-linked recessive (3.8%) or autosomal dominant (excluding de novos, 7.7%), with risk of recurrence in future pregnancies.

Rapid Nanopore Sequencing–Based Screen for Aneuploidy in Reproductive Care
S Wei et al, NEJM, August 18, 2022 (Posted: Aug-17-2022 5PM)

Aneuploid pregnancies are a major cause of pregnancy loss, fetal structural anomalies, and developmental delays. Consequently, the identification of genetic abnormalities is an important component of prenatal and fertility care. We developed and validated a new short-read–based approach for library preparation, sequencing, and data analysis that enables accurate, inexpensive, and same-day genomewide aneuploidy detection with the use of a palm-sized, nanopore-based DNA sequencer.

Covid-19 Vaccination during Pregnancy and First-Trimester Miscarriage.
Magnus Maria C et al. The New England journal of medicine 2021 10 (Posted: Oct-21-2021 6AM)

Our study found no evidence of an increased risk for early pregnancy loss after Covid-19 vaccination and adds to the findings from other reports supporting Covid-19 vaccination during pregnancy. Among 13,956 women with ongoing pregnancies (of whom 5.5% were vaccinated) and 4521 women with miscarriages (of whom 5.1% were vaccinated), the median number of days between vaccination and miscarriage or confirmation of ongoing pregnancy was 19 (Fig. S2). Among women with miscarriages, the adjusted odds ratios for Covid-19 vaccination were 0.91 (95% confidence interval [CI], 0.75 to 1.10) for vaccination in the previous 3 weeks and 0.81 (95% CI, 0.69 to 0.95) for vaccination in the previous 5 weeks.

Preliminary Findings of mRNA Covid-19 Vaccine Safety in Pregnant Persons
TT Shimabukuru et al, NEJM< June 17, 2021 (Posted: Jun-16-2021 7PM)

Among 3958 participants enrolled in the v-safe pregnancy registry, 827 had a completed pregnancy, of which 115 (13.9%) resulted in a pregnancy loss and 712 (86.1%) resulted in a live birth (mostly among participants with vaccination in the third trimester). Adverse neonatal outcomes included preterm birth (in 9.4%) and small size for gestational age (in 3.2%); no neonatal deaths were reported.

Understanding Pregnancy Loss, Infertility, Birth Defects and the MTHFR gene: What Everyone Should Know
J Gunter, the Vajenda, March 27, 2021 (Posted: Mar-29-2021 6AM)

Many people have erroneously linked MTHFR polymorphisms with a myriad of medical conditions. In the world of reproductive medicine, it is blamed for a host of things, such as infertility, miscarriages, stillbirths, failure of in vitro fertilization (IVF), preecplampsia (a serious medical condition during pregnancy), and having a child with autism, Down syndrome, birth defects that impact the heart (congenital heart disease), and neural tube defects.

Application of Copy Number Variation Sequencing in Genetic Analysis of Miscarriages in Early and Middle Pregnancy.
Luo Shiqiang et al. Cytogenetic and genome research 2021 1-9 (Posted: Mar-26-2021 9AM)

An abnormal chromosome number is the most important reason for embryo termination in early and middle pregnancy, followed by pathogenic chromosome CNVs. CNV-seq can quickly and accurately detect chromosome abnormalities and identify microdeletion and microduplication CNVs that cannot be detected by conventional chromosome analysis, which is convenient and efficient for genetic etiology diagnosis in miscarriage.

Recurrent pregnancy loss
E Dimitriadis et al, Nature DIs Primers, December 2020 (Posted: Dec-21-2020 7AM)

Recurrent pregnancy loss can be caused by chromosomal errors, anatomical uterine defects, autoimmune disorders and endometrial dysfunction. Available treatments target the putative risk factors of pregnancy loss, although the effectiveness of many medical interventions is controversial.

Exome sequencing analysis on products of conception: a cohort study to evaluate clinical utility and genetic etiology for pregnancy loss
C Zhao et al, Genetics in Medicine, October 26, 2020 (Posted: Oct-26-2020 9AM)

Pregnancy loss ranging from spontaneous abortion (SAB) to stillbirth can result from monogenic causes of Mendelian inheritance. This study evaluated the clinical application of exome sequencing (ES) in identifying the genetic etiology for pregnancy loss.

Genetic and epigenetic variations associated with idiopathic recurrent pregnancy loss.
Arias-Sosa Luis Alejandro et al. Journal of assisted reproduction and genetics 2018 Jan (Posted: Feb-26-2018 10AM)

The Status of Genetic Screening in Recurrent Pregnancy Loss.
Kaser Daniel et al. Obstetrics and gynecology clinics of North America 2018 Mar (1) 143-154 (Posted: Feb-26-2018 9AM)

First trimester pregnancy loss: Clinical implications of genetic testing.
Massalska Diana et al. The journal of obstetrics and gynaecology research 2017 Jan (1) 23-29 (Posted: May-07-2017 1PM)

Diagnostic utility of microarray testing in pregnancy loss.
Rosenfeld J A et al. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2015 Oct (4) 478-86 (Posted: Jan-19-2016 1PM)

Cost-effectiveness analysis of preimplantation genetic screening and in vitro fertilization versus expectant management in patients with unexplained recurrent pregnancy loss.
Murugappan Gayathree et al. Fertil. Steril. 2015 Mar 12. (Posted: Apr-19-2015 2PM)

Disclaimer: Articles listed in Hot Topics of the Day are selected by the CDC Office of Genomics and Precision Public Health to provide current awareness of the scientific literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the Clips, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.