Firsttrimester Diagnosis and Therapy @ 11 - 13 Weeks of Gestation - Part 1 : Guideline of the DEGUM, ÖGUM, SGUMGG, DGGG, ÖGG, Gynecologie Suisse, DGPM, DGPGM, BVF, ACHSE (AWMF S2e LL 085-002 1.1.2024) (https://register.awmf.org/de/leitlinien/detail/085-002).

This extensive AWMF 085-002 S2e-guideline "First Trimester Diagnosis and Therapy @ 11 - 13 of Gestation" has systematically analyzed high-quality studies and publications and the existing evidence (evidence tables) and produced recommendations (level of recommendation, level of evidence, strength of consensus). This guideline deals with the following topics in the context of the 11 - 13 weeks scan: the legal basis, screening for anatomical malformations, screening for chromosomal defects, quality assessment and audit, screening for preeclampsia and FGR, screening for preterm birth, screening for abnormally invasive placenta (AIP) and placenta accreta spectrum (PAS), screening for velamentous cord insertion and vasa praevia, screening for diabetes mellitus and LGA. Screening for complications of pregnancy can best be carried out @ 11 - 13 weeks of gestation.

Prenatal parvovirus B19 infection.

Parvovirus B19 (B19V) causes erythema infectiosum, a.k.a.

Fetal eye ultrasound: Normal anatomy, abnormal findings, and clinical impact.

Until now, ultrasound examination of the fetal eyes has not played an important role in prenatal diagnosis. National and international guidelines are generally confined to documentation of the presence of the orbits and the lenses. However, in recent years, with the advent of high-resolution ultrasound technology and increasing knowledge of prenatal medicine and genetics, careful examination of the fetal eye has enabled the detection of many ocular malformations before birth.

Pentaerythrityl tetranitrate improves the outcome of children born to mothers with compromised uterine perfusion-12-months follow-up and safety data of the double-blind randomized PETN trial.

Background: This is a follow-up study to the pentaerythrityl tetranitrate randomized controlled multicenter trial that reports neonatal outcome data of newborns admitted to neonatal intensive care units and outcome data of the offspring at 12 months of age.

Objective: We present data on adverse events reported during the study to document the safety of pentaerythrityl tetranitrate treatment during pregnancy. To further evaluate the effects of pentaerythrityl tetranitrate on neonatal and long-term outcomes, we present follow up data from of 240 children at 12 months of age, including information on height, weight, head circumference, developmental milestones, and the presence of chronic disease and of 144 newborns admitted to the neonatal intensive care unit during the trial.

Importance of a detailed anomaly scan after a cfDNA test indicating fetal trisomy 21, 18 or 13.

Objective: To investigate the effect of the presence or absence of fetal anomalies and soft markers diagnosed by ultrasound on positive predictive value (PPV) 21, 18 and 13 in pregnancies with a high-risk cfDNA result.

Methods: Retrospective study including singleton pregnancies with high-risk NIPT results for common trisomies followed by invasive testing. The cases were grouped by gestational age at the time of invasive testing and by the presence or absence of fetal abnormalities or soft markers.

Toxoplasma gondii Infection in Pregnancy - Recommendations of the Working Group on Obstetrics and Prenatal Medicine (AGG - Section on Maternal Disorders).

The AGG (Working Group for Obstetrics and Prenatal Diagnostics, Section Maternal Diseases) has issued these recommendations to improve the detection and management of Toxoplasma gondii infection in pregnancy. Members of the Task Force developed the recommendations and statements presented here using recently published literature. The recommendations were adopted after a consensus process by members of the working group.

Obesity in prenatal medicine: a game changer?

Obesity is recognized by the World Health Organization (WHO) as a disease in its own right. Moreover, obesity is an increasingly concerning public health issue across the world and its prevalence is rising amongst women of reproductive age. The fertility of over-weight and obese women is reduced and they experience a higher rate of miscarriage.

Screen-positive rate in cell free DNA screening for trisomy 21.

Objective: To assess whether the fetal fraction (FF) has an impact on the screen-positive rate (SPR) in cell-free DNA (cfDNA) screening for trisomy 21.

Methods: Retrospective analysis based on samples analyzed using the Harmony Prenatal Test (Roche Inc). Due to the size of the data set, we focused on the SPR, which was stratified according to the maternal age, weight, gestational age, and FF distribution.

Timing of antenatal corticosteroid administration in pregnancies with increased risk for premature birth: A retrospective cohort study.

Objective: To investigate how often antenatal corticosteroids (ACS) were administered within the optimal time frame in women at risk of preterm birth (PTB) in relation to several diagnoses and risk factors.

Method: The study was designed as a retrospective cohort trial, in which the data of all births taking place in 2016 in the German federal state of Rhineland-Palatinate were evaluated. Frequency analyses, subgroup analyses, and logistic regression were performed.

Prenatal testing for Imprinting Disorders: A clinical perspective.

Imprinting Disorders (ImpDis) are a group of congenital conditions caused by aberrant imprinting resulting in disturbed expression of parentally imprinted genes. ImpDis are rarely associated with major malformations, but pre- and/or postnatal growth and nutrition are often affected. In some ImpDis, behavioral, developmental, metabolic and neurological symptoms might present in the perinatal context or later in life, and in single ImpDis, there is a higher risk of tumors in childhood.

DEGUM Recommendations on Diagnostic Puncture in Prenatal Medicine.

Diagnostic puncture (amniocentesis, chorionic villus sampling, and fetal blood sampling) is an essential part of prenatal diagnostics and the only established and sufficiently scientifically evaluated possibility of diagnosing genetic diseases from pregnancy-specific cells. The number of diagnostic punctures in Germany, as in other countries, has fallen significantly. This is largely due to the introduction of first-trimester screening with further detailed ultrasound examination of the fetus and the analysis of cf-DNA (cell-free DNA) from maternal blood (noninvasive prenatal test - NIPT).

How to do a 3D uterus ultrasound?

Three-dimensional (3D) ultrasound is an invaluable tool in the detection and evaluation of many uterine anomalies and improves upon the traditional approach of two-dimensional (2D) ultrasonography. We aim to describe an easy way of assessing the uterine coronal plane using the basic three-dimensional ultrasound in everyday gynecological practice.

Screen-positive rate in cell-free DNA screening for microdeletion 22q11.2.

Objective: To examine the impact of the fetal fraction (FF) on the screen-positive rate in screening for microdeletion 22q11.2.

Methods: This study is based on samples that were analyzed using the Harmony® Prenatal Test (Roche Inc).