Diagnosis and Management in Prenatal Medicine

A special issue of Diagnostics (ISSN 2075-4418). This special issue belongs to the section "Pathology and Molecular Diagnostics".

Deadline for manuscript submissions: closed (30 June 2022) | Viewed by 12129

Special Issue Editor

Center of Medical Genetics UZA/UA, Antwerp University Hospital, 2000 Antwerp, Belgium
Interests: prenatal diagnosis; preimplantation genetic testing; genetic counselling; genetic diagnosis
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Prenatal medicine is a rapidly expanding field with new diagnostic possibilities due to developments in the sector of genetic and molecular diagnosis. These new prospects also pose novel challenges regarding the interpretation of results and ethical considerations. This Special Issue on ‘Diagnosis and Management in Prenatal Medicine’ aims to publish papers expounding new insights into the area of fetal and maternal medicine.

Prof. Dr. Bettina Blaumeiser
Guest Editor

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Keywords

  • Prenatal diagnosis
  • Fetus
  • Pregnancy
  • Prenatal screening
  • Invasive prenatal test
  • Amniocentesis
  • Chorionic villous sampling
  • NIPT

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Published Papers (5 papers)

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12 pages, 1040 KiB  
Article
Reduction in Preterm Preeclampsia after Contingent First-Trimester Screening and Aspirin Prophylaxis in a Routine Care Setting
by Cristina Trilla, Josefina Mora, Nuria Ginjaume, Madalina Nicoleta Nan, Obdulia Alejos, Carla Domínguez, Carmen Vega, Yessenia Godínez, Monica Cruz-Lemini, Juan Parra and Elisa Llurba
Diagnostics 2022, 12(8), 1814; https://0-doi-org.brum.beds.ac.uk/10.3390/diagnostics12081814 - 28 Jul 2022
Cited by 4 | Viewed by 1805
Abstract
Objectives: Several multivariate algorithms for preeclampsia (PE) screening in the first trimester have been developed over the past few years. These models include maternal factors, mean arterial pressure (MAP), uterine artery Doppler (UtA-PI), and biochemical markers (pregnancy-associated plasma protein-A (PAPP-A) or placental growth [...] Read more.
Objectives: Several multivariate algorithms for preeclampsia (PE) screening in the first trimester have been developed over the past few years. These models include maternal factors, mean arterial pressure (MAP), uterine artery Doppler (UtA-PI), and biochemical markers (pregnancy-associated plasma protein-A (PAPP-A) or placental growth factor (PlGF)). Treatment with low-dose aspirin (LDA) has shown a reduction in the incidence of preterm PE in women with a high-risk assessment in the first trimester. An important barrier to the implementation of first-trimester screening is the cost of performing tests for biochemical markers in the whole population. Theoretical contingent strategies suggest that two-stage screening models could also achieve high detection rates for preterm PE with lower costs. However, no data derived from routine care settings are currently available. This study was conducted to validate and assess the performance of a first-trimester contingent screening process using PlGF for PE, with prophylactic LDA, for decreasing the incidence of preterm PE. Methods: This was a two-phase study. In phase one, a contingent screening model for PE was developed using a multivariate validated model and a historical cohort participating in a non-interventional PE screening study (n = 525). First-stage risk assessment included maternal factors, MAP, UtA-PI, and PAPP-A. Several cut-off levels were tested to determine the best screening performance, and three groups were then defined (high-, medium-, and low-risk groups). PlGF was determined in the medium-risk group to calculate the final risk. Phase two included a validation cohort of 847 singleton pregnancies prospectively undergoing first-trimester PE screening using this approach. Women at high risk of PE received prophylactic treatment with 150 mg of LDA. The clinical impact of the model was evaluated by comparing the incidence of early-onset (<34 weeks) and preterm (<37 weeks) PE between groups. Results: Cut-off levels for the contingent screening model were chosen in the first and second stages of screening to achieve a performance with sensitivities of 100% and 80% for early-onset and preterm PE detection, respectively, with a 15% false positive rate. In the development phase, 21.5% (n = 113) of the women had a medium risk of PE and required second-stage screening. In the prospective validation phase, 15.3% (n = 130) of the women required second-stage screening for PlGF, yielding an overall screen-positive rate of 14.9% (n = 126). The incidence of preterm PE was reduced by 68.4% (1.9% vs. 0.6%, p = 0.031) after one year of screening implementation. Conclusions: Implementation of contingent screening for PE using PlGF in a routine care setting led to a significant reduction (68.4%) in preterm PE, suggesting that contingent screening can achieve similar results to protocols using PlGF in the whole population. This could have financial benefits, with a similar reduction in the rate of preterm PE. Full article
(This article belongs to the Special Issue Diagnosis and Management in Prenatal Medicine)
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11 pages, 1599 KiB  
Article
Association between the Concentrations of Essential and Toxic Elements in Mid-Trimester Amniotic Fluid and Fetal Chromosomal Abnormalities in Pregnant Polish Women
by Joanna Suliburska, Jakub Pankiewicz, Adam Sajnóg, Magdalena Paczkowska, Beata Nowakowska, Ewa Bakinowska, Danuta Barałkiewicz and Rafał Kocyłowski
Diagnostics 2022, 12(4), 979; https://0-doi-org.brum.beds.ac.uk/10.3390/diagnostics12040979 - 13 Apr 2022
Cited by 2 | Viewed by 1589
Abstract
The present study aimed to investigate the relationship between the concentrations of essential and toxic elements present in the amniotic fluid (AF) and fetal chromosomal abnormalities in pregnant women. A total of 156 pregnant white Polish women aged between 20 and 43 years [...] Read more.
The present study aimed to investigate the relationship between the concentrations of essential and toxic elements present in the amniotic fluid (AF) and fetal chromosomal abnormalities in pregnant women. A total of 156 pregnant white Polish women aged between 20 and 43 years and screened to detect high risk for chromosomal defects in the first trimester were included in the study. AF samples were collected from these women during routine diagnostic and treatment procedures at mid-gestation (15–22 weeks of their pregnancies). The concentrations of various minerals in the AF were determined by inductively coupled plasma mass spectrometry. Genomic hybridization and cytogenetic karyotyping were performed to detect chromosomal aberrations in the fetuses. The genetic analysis revealed chromosomal aberrations in 19 fetuses (over 12% of all the evaluated women). The major abnormalities identified were trisomy 21 (N = 11), trisomy 18 (N = 2), and triploidy (N = 2). Fetuses with chromosomal abnormalities more frequently showed lower manganese concentration in the AF in the second trimester as compared to those with normal karyotype. A coincidence was observed between high iron levels in the AF and a higher risk of chromosomal abnormalities in the fetuses. Full article
(This article belongs to the Special Issue Diagnosis and Management in Prenatal Medicine)
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8 pages, 469 KiB  
Article
Difference in Procedure-Related Risk of Miscarriage between Early and Mid-Trimester Amniocentesis: A Retrospective Cohort Study
by Kelly Steinfort, Ellen Van Houtven, Yves Jacquemyn, Bettina Blaumeiser and Philip Loquet
Diagnostics 2021, 11(6), 1098; https://0-doi-org.brum.beds.ac.uk/10.3390/diagnostics11061098 - 16 Jun 2021
Cited by 3 | Viewed by 2035
Abstract
Early amniocentesis (EA)—before 15 gestational weeks—is not recommended because of a high rate of miscarriages. Most studies performed amniocentesis at very early stages of pregnancy (11–13 weeks of gestational age). However, amniocentesis performed at 14 gestational weeks could be an important alternative to [...] Read more.
Early amniocentesis (EA)—before 15 gestational weeks—is not recommended because of a high rate of miscarriages. Most studies performed amniocentesis at very early stages of pregnancy (11–13 weeks of gestational age). However, amniocentesis performed at 14 gestational weeks could be an important alternative to mid-trimester amniocentesis (MA) because it shortens the time period between the screening (non-invasive prenatal test (NIPT)) and the diagnostic test (amniocentesis). This study aimed to compare the procedure-related risk of miscarriage between MA (15 + 0 to 17 + 6 weeks of gestational age) and EA (14 + 0–6 weeks of gestational age). This is a multicentric, retrospective cohort study from 1 January 2007 to 21 November 2018, comparing the MA to the EA cohort. Procedure-related fetal loss is defined as spontaneous abortion occurring within 4 weeks of the procedure. Multiple gestations, amniocenteses performed after 17 or before 14 weeks, indications other than prenatal genetic diagnoses and procedures performed by less experienced gynaecologists were excluded. Complete outcome data were available for 1107 out of 1515 women (73.1%): 809 (69.9%) in the MA and 298 (83.2%) in the EA cohort. No significant difference was found (EA 0.82% vs. MA 0.36%; p = 0.646). The difference was 0.46% (odds ratio = 0.673; 95% confidence interval = 0.123–3.699). This study found no significant difference in the procedure-related risk of miscarriage when EA was compared to MA. EA might be considered a safe alternative, though further research is necessary. Full article
(This article belongs to the Special Issue Diagnosis and Management in Prenatal Medicine)
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11 pages, 1419 KiB  
Article
Prenatal Biochemical and Ultrasound Markers in COVID-19 Pregnant Patients: A Prospective Case-Control Study
by Stefano Cosma, Andrea Roberto Carosso, Fulvio Borella, Jessica Cusato, Marialuisa Bovetti, Federica Bevilacqua, Marco Carosso, Fiammetta Gervasoni, Andrea Sciarrone, Luca Marozio, Alberto Revelli, Alessandro Rolfo, Claudia Filippini, Valeria Ghisetti, Giovanni Di Perri and Chiara Benedetto
Diagnostics 2021, 11(3), 398; https://0-doi-org.brum.beds.ac.uk/10.3390/diagnostics11030398 - 26 Feb 2021
Cited by 7 | Viewed by 3367
Abstract
This prospective observational study aimed to evaluate whether women with SARS-CoV-2 infection during the first trimester of pregnancy are at higher risk of noninvasive prenatal screening test alterations and/or of congenital fetal anomalies at the second-trimester fetal anatomy scan. Maternal symptoms were secondly [...] Read more.
This prospective observational study aimed to evaluate whether women with SARS-CoV-2 infection during the first trimester of pregnancy are at higher risk of noninvasive prenatal screening test alterations and/or of congenital fetal anomalies at the second-trimester fetal anatomy scan. Maternal symptoms were secondly investigated. The study was carried out on 12-week pregnant women admitted for noninvasive prenatal testing (16 April and 22 June 2020). The cohort had seromolecular tests for SARS-CoV-2, after which they were divided into a positive case group and a negative control group. Both groups had 20-week ultrasound screening. Seventeen out of the 164 women tested positive for SARS-CoV-2 (10.3%). There were no significant differences in mean nuchal translucency thickness or biochemical markers (pregnancy-associated plasma protein A, alpha-fetoprotein, human chorionic gonadotropin, unconjugated estriol) between cases and controls (p = 0.77, 0.63, 0.30, 0.40, 0.28) or in the fetal incidence of structural anomalies at the second-trimester fetal anatomy scan (p = 0.21). No pneumonia or hospital admission due to COVID-19-related symptoms were observed. Asymptomatic or mildly symptomatic SARS-CoV-2 infection during the first trimester of pregnancy did not predispose affected women to more fetal anomalies than unaffected women. COVID-19 had a favorable maternal course at the beginning of pregnancy in our healthy cohort. Full article
(This article belongs to the Special Issue Diagnosis and Management in Prenatal Medicine)
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9 pages, 5315 KiB  
Case Report
Effect of Ornithine Transcarbamylase (OTC) Deficiency on Pregnancy and Puerperium
by Rastislav Sysák, Katarína Brennerová, Romana Krlín, Peter Štencl, Igor Rusňák and Mária Vargová
Diagnostics 2022, 12(2), 415; https://0-doi-org.brum.beds.ac.uk/10.3390/diagnostics12020415 - 05 Feb 2022
Cited by 3 | Viewed by 2241
Abstract
Ornithine transcarbamylase (OTC) deficiency is the most common inherited metabolic disorder in urea cycles with an incidence of 1:14,000 live births. Pregnancy, childbirth and the postpartum period are considered challenging for women with this hereditary metabolic disorder, with a risk of hyperammonemia, especially [...] Read more.
Ornithine transcarbamylase (OTC) deficiency is the most common inherited metabolic disorder in urea cycles with an incidence of 1:14,000 live births. Pregnancy, childbirth and the postpartum period are considered challenging for women with this hereditary metabolic disorder, with a risk of hyperammonemia, especially in the first week after delivery. In our article, we discuss severe hepatic failure, a pregnancy complication in an OTC deficient patient that has not previously been published. Firstly, our aim is to highlight the need for a strict adherence to the recommendation of the gradual increase of protein intake during pregnancy and the importance of multidisciplinary monitoring of pregnant patients with OTC deficiency. Secondly, we refer to critical postpartum hyperammonemia in patients with this hereditary metabolic disorder. Full article
(This article belongs to the Special Issue Diagnosis and Management in Prenatal Medicine)
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