Quality assessment of first-trimester screening for preterm pre-eclampsia.

OBJECTIVE: To assess the performance and impact of first-trimester preterm pre-eclampsia screening in a single center. METHODS: This was a single-center study of women with a singleton pregnancy who were screened prospectively for preterm pre-eclampsia (i.e. delivery before 37 weeks' gestation) using maternal characteristics, mean arterial pressure (MAP), uterine artery Doppler pulsatility index, maternal serum pregnancy-associated plasma protein-A and placental growth factor. The individual risk for preterm pre-eclampsia was estimated from a published model, and those with a risk above 1 in 200 were recommended to take 150 mg soluble aspirin per day until 34 weeks. Information on the incidence of pre-eclampsia was obtained from the hospital register of adverse pregnancy outcomes. Screening performance indicators, including detection and false-positive rates, were estimated from the distribution of risks. Screening impact was estimated by dividing the observed prevalence by the expected prevalence, which was derived from the distribution of risks. RESULTS: The distributions of MAP, uterine artery Doppler pulsatility index and serum markers were consistent with the risk model parameters. The estimated detection and false-positive rates were 79.7% and 16.2%, respectively. There were six cases of preterm pre-eclampsia, four of which occurred in women with a positive screening result. The prevalence was 62% of that expected, but the 95% CI of 23-140% indicated that the study was underpowered to assess the impact. CONCLUSIONS: This study demonstrates that the performance of preterm pre-eclampsia screening can be estimated in a single center with fewer than 2000 women screened. However, in order to assess the impact of screening on the prevalence of the condition, a much larger cohort is needed. © 2022 International Society of Ultrasound in Obstetrics and Gynecology.

[Hyperechogenic fetal bowel as a marker of fetal cystic fibrosis]. / Hyperechogenita intestina jako marker cystické fibrózy u plodu.

INTRODUCTION: Hyperechogenic bowel (HB) occurs in 0.1 to 1.8% of normal pregnancies. In most cases it has no consequence for the foetus, but can be associated with cystic fibrosis (CF), chromosomal defects, genetic syndromes, viral infections, gastrointestinal pathology, missed gravidity, IUGR and preterm labour. OBJECTIVES: Assessment the risk of the foetus having CF or other abnormalities when HB was detected during ultrasound screening in the second trimester of pregnancy in our centre. DESIGN: Retrospective study. SETTING: Department of Obstetrics and Gynecology, Centre of Fetal Medicine and Genetics, KNTB a.s. Zlín. METHODS: Retrospective analysis of 149 cases of HB between 17 to 22 weeks of pregnancy detected from January 2008 to April 2012. HB was evaluated according to its degree of echogenicity (Slotnik/Abuhamed classification), presence or absence of other ultrasound markers and the result of first trimester combined screening result. When stage II or III HB and/or borderline risk in first trimester screening, and presence of other ultrasound markers was detected, amniocentesis (AMC) was performed to investigate the karyotype, mutations in the CFTR gene and presence of viral infections (cytomegalovirus and parvovirus B19). If stage I or II HB and/or negative I. trimester screening and no other ultrasound markers, viral infections and mutations in the CFTR gene were investigated form maternal blood. If positive, paternal blood sampling testing for mutation in the CFTR gene was performed. If a mutation was detected in both parents, AMC was performed. Mutations of the CFTR gene was investigated with a commercial panel of 33 to 50 most common mutations. Postnatally the outcome of neonatal screening for CF(IRT) and any newborns with congenital malformations were ascertained. RESULTS: HB was seen in 149 foetuses, AMC was performed in 94 (63%), and blood sampling in 55 (37%). Two mutations in the CFTR gene associated with a severe form of CF (deltaF508/3849 KBC +10 T) were found in one foetus from the AMC group with stage III HB. The parents decided to terminate the pregnancy. The incidence of HB in our group was 0.7%. In 4 foetuses (2.7%) with stage II HB heterozygous deltaF508 mutation was found, in the rest no mutations were detected. Parents of heterozygous carriers underwent genetic consultation. Postnatal CF screening (IRT level from a heel prick sample) was negative; therefore no further molecular genetic analysis was performed. Infection was detected in three foetuses; one case was managed with intrauterine transfusion and in the other two cases parents decided for termination. Four cases (2.7%) were terminated because of severe congenital anomalies. Minor congenital abnormalities were detected in seven (4.7%) cases. Intrauterine death was detected in three (2%) pregnancies. CONCLUSION: Based on our results, HB can be considered as a significant marker for the risk of CF, especially in HB stages II and III. It also demonstrates the importance of this marker for the risk of other foetal abnormalities.