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European Review For Medical and... Aug 2023This research aimed to explore the value of non-invasive prenatal testing (NIPT) as a prenatal screening method for common aneuploidy in pregnant women in advanced...
OBJECTIVE
This research aimed to explore the value of non-invasive prenatal testing (NIPT) as a prenatal screening method for common aneuploidy in pregnant women in advanced maternal age.
PATIENTS AND METHODS
A retrospective analysis was conducted on a cohort of 545 mothers with singleton pregnancy who were of advanced age and underwent NIPT testing voluntarily at the Second Affiliated Hospital of Guangxi Medical University between November 2020 and February 2023. In cases where NIPT testing suggested chromosomal abnormalities, amniocentesis was conducted, karyotype analysis or gene copy number variation (CNV) testing was performed, and the pregnancy outcome was tracked.
RESULTS
Among 545 pregnant women in advanced maternal age, 11 cases had high risk of NIPT, and the detection rate was 2.02%. Among 11 pregnant women deemed to be at high risk for NIPT, 10 cases underwent amniotic fluid puncture, and one case refused amniocentesis despite a suggestive chromosomal abnormality in NIPT. The overall rate of amniocentesis was 1.83%. Among 11 pregnant women deemed to be at high risk for NIPT, the results suggested that 5 of them had trisomy 21, 1 had trisomy 18, 2 had sex chromosome abnormalities (specifically, 47, XYY), and 3 had other autosomal abnormalities. The positive predictive values of NIPT were 100.00% for the cases of trisomy 21 and trisomy 18, while the values were 0.00% for the cases of sex chromosome abnormalities and other autosomal abnormalities, respectively. After the follow-up, each of the 6 cases that were diagnosed with definite chromosomal abnormalities during prenatal screening opted to induce labor and terminate the pregnancy, including 5 cases that exhibited a high risk of trisomy 21 (47, XN,+21) and 1 case that showed a high risk of trisomy 18 (47, XN,+18). One instance of NIPT indicated a potential abnormality in the sex chromosomes, the individual declined to undergo amniocentesis. Another instance of NIPT suggested a sex chromosome abnormality, amniocentesis revealed a deletion of 0.72 Mb in the 4q22.1 region. They all had normal pregnancies and normal newborns. The remaining three cases had normal prenatal diagnoses (46, XN) and experienced normal pregnancies with healthy neonatal outcomes.
CONCLUSIONS
NIPT has demonstrated its efficacy as a screening tool in the face of increasing maternal age. As a result, it can substantially decrease the requirement for invasive prenatal diagnosis. Nonetheless, there are instances of erroneous positive outcomes in NIPT testing, and therefore, interventional prenatal diagnosis remains necessary for individuals with high-risk screening outcomes to prevent false positives or unwarranted labor induction.
Topics: Infant, Newborn; Humans; Pregnancy; Female; Child; Pregnant Women; Down Syndrome; Trisomy 18 Syndrome; DNA Copy Number Variations; Maternal Age; Retrospective Studies; China; Chromosome Aberrations; Sex Chromosome Aberrations
PubMed: 37606120
DOI: 10.26355/eurrev_202308_33283 -
The Journal of Maternal-fetal &... Dec 2023Intra-amniotic infections increase the risk of preterm delivery and short- and long-term fetal morbidity; however, no consensus exists on the choice of antimicrobial...
OBJECTIVE
Intra-amniotic infections increase the risk of preterm delivery and short- and long-term fetal morbidity; however, no consensus exists on the choice of antimicrobial agents as treatment for these infections. We aimed to examine the efficacy of intravenous administration of sulbactam/ampicillin (SBT/ABPC) and azithromycin (AZM) for intra-amniotic infection in patients with preterm premature rupture of membranes (PPROM).
METHODS
This study followed a single-centered retrospective cohort design. We compared changes in interleukin 6 (IL-6) levels and the load of species DNA in the amniotic fluid between singleton pregnancy patients with intra-amniotic infection (Group A) and without either intra-amniotic inflammation (IAI) or microbial invasion of the amniotic cavity (MIAC) (Group B) who developed PPROM between week 22, day 0 and week 33, day 6 of gestation and maintained pregnancy for ≥7 d after diagnosis (August 2014 to April 2020). Patients in Group A were treated with SBT/ABPC and AZM, whereas those in Group B were treated with ABPC and AZM or clarithromycin.
RESULTS
Thirty-one patients with IAI and 48 patients without either IAI or MIAC at diagnosis of PPROM underwent pregnancy/delivery management at our hospital. Following the study population selection, we evaluated six patients in Group A and 13 patients in Group B. Amniotic fluid IL-6 concentrations at the initial amniocentesis were high, ranging from 11.7 ng/mL to 139.2 ng/mL, indicating a state of severe IAI in all six patients in Group A. In five of the six patients in Group A, the amniotic fluid cultures during the first amniocentesis included species only. In both groups, the amniotic fluid IL-6 concentration at the follow-up amniocentesis was lower than that at the initial amniocentesis (Group A: follow-up median 3.06 ng/mL [quartiles, 1.75-6.74], initial median 30.53 ng/mL [quartiles, 15.60-67.07], =.03; Group B: follow-up median 0.40 ng/mL [quartiles, 0.18-0.69], initial median 0.96 ng/mL [quartiles, 0.65-1.42], =.005); Group A showed a greater decrease than Group B ( < .001). No difference was found between the microbial loads of species DNA in the initial and follow-up amniocentesis ( = .13).
CONCLUSIONS
In patients with PPROM and intra-amniotic infection, IL-6 levels in the amniotic fluid decreased significantly from before antimicrobial administration to day 7. This decrease is thought to be mainly due to the effects of intravenous AZM. The efficacy of AZM in patients with PPROM needs to be further confirmed randomized controlled studies in the future.
Topics: Pregnancy; Infant, Newborn; Female; Humans; Chorioamnionitis; Retrospective Studies; Premature Birth; Interleukin-6; Fetal Membranes, Premature Rupture; Anti-Bacterial Agents; Inflammation; Amniotic Fluid; Ureaplasma; DNA; Gestational Age
PubMed: 38016702
DOI: 10.1080/14767058.2023.2286189 -
Cureus Apr 2024Invasive prenatal testing, amniocentesis, and chorionic villus sampling offer insights into fetal genetic integrity and health, but carry inevitable minor risks of... (Review)
Review
Invasive prenatal testing, amniocentesis, and chorionic villus sampling offer insights into fetal genetic integrity and health, but carry inevitable minor risks of miscarriage and infection, thus complicating the decision-making process for parents. Previous research has revealed several factors that influence the decision to undergo invasive prenatal testing, including demographic, clinical, and psychological aspects, and attitudes towards testing. Informed choice, involving understanding options and aligning them with personal values, is crucial, with healthcare providers playing a key role in offering unbiased information. This systematic review aims to gather and synthesize literature data on the above factors to draw conclusions to aid antenatal care providers in supporting couples to make more informed decisions about their prenatal care. A systematic search was performed in PubMed and PsycInfo databases using the appropriate keywords and an in-depth evaluation of the studies retrieved followed. Finally, 17 articles were eligible for our review investigating the decision-making process of invasive prenatal testing. Factors like maternal age, education, and ethnicity are pivotal during the decision-making process. Clinical characteristics also influence decisions and women with pregnancies categorized as high-risk or those who have undergone fertility treatment display a preference for invasive testing. There seems to be a direct correlation between a woman's willingness to consider pregnancy termination, deeply rooted in psychological and moral stances, and the inclination to undergo invasive testing. In the patient decision-making process, the provision and depth of knowledge are of paramount importance. A comprehensive understanding facilitates more informed decisions. Finally, attitudes towards termination of pregnancy, as another factor influencing the decision-making process, reveal a nuanced landscape where personal beliefs, religious considerations, legal restrictions, and perspectives on disability converge. Within this complex context, religion emerges as an important determinant, shaping individuals' views on the morality of abortion. This review sheds light on the most important factors influencing the couples' consent for invasive prenatal testing. Healthcare professionals must identify which factors are critical in every specific case among several sociodemographic, clinical, emotional, and religious factors. Thus, they will be able to provide balanced and comprehensive information to help couples under this stressful procedure. We advocate for a patient-centered multidisciplinary approach while navigating couples through the intricate landscape of decision-making concerning invasive prenatal testing.
PubMed: 38654958
DOI: 10.7759/cureus.58803 -
Frontiers in Genetics 2024
PubMed: 38482384
DOI: 10.3389/fgene.2024.1371166 -
Cureus Jan 2024Introduction Congenital toxoplasmosis (CT), despite being mostly subclinical at birth, can cause disabling disease in the fetus and lead to long-term sequelae. It is an...
Introduction Congenital toxoplasmosis (CT), despite being mostly subclinical at birth, can cause disabling disease in the fetus and lead to long-term sequelae. It is an important cause of chorioretinitis in infants and adolescents. Data on postnatal treatment are controversial, and there is a lack of universal guidelines. Methods A cross-sectional study of newborns with suspected CT was conducted between January 2007 and December 2021. Results Seventy-one patients with suspected CT were included. During pregnancy, 64 (90.1%) of the mothers underwent therapy, of which 59 (83.1%) with spiramycin. Amniocentesis identified one positive polymerase chain reaction assay. Most newborns were asymptomatic with normal laboratory, ophthalmological, and hearing screening. There was one case of hyperproteinorrachia. Fifty-seven patients (80.3%) started treatment: 42 (73.7%) with spiramycin, seven (12.3%) with pyrimethamine, sulfadiazine, and folinic acid (P+S+FA), and eight (14%) with P+S+FA intercalated with spiramycin. Adverse effects were found in 11 (19.3%) cases, mainly neutropenia. After investigation, we found three confirmed CT cases corresponding to 4.2% of suspected cases and an incidence of 0.4 per 10,000 births. All had normal clinical and laboratory exams in the neonatal period and started P+S+FA, fulfilling 12 months of therapy. During the follow-up, all presented normal psychomotor development without any long-term sequelae. Conclusion The lower incidence in our study, compared to the incidence in Europe, may be related to the decline in the prevalence of toxoplasmosis as well as the effectiveness of measures to prevent primary infection and a well-established program of antenatal screening, followed by the early initiation of treatment during pregnancy to prevent vertical transmission.
PubMed: 38406029
DOI: 10.7759/cureus.52971 -
Journal of Personalized Medicine Jan 2024Parvovirus B19, a member of the family, is a human pathogenic virus. It can be transmitted by respiratory secretions, hand-to-mouth contact, blood transfusion, or... (Review)
Review
Parvovirus B19, a member of the family, is a human pathogenic virus. It can be transmitted by respiratory secretions, hand-to-mouth contact, blood transfusion, or transplacental transmission. Most patients are asymptomatic or present with mild symptoms such as erythema infectiosum, especially in children. In rare cases, moderate-to-severe symptoms may occur, affecting blood cells and other systems, resulting in anemia, thrombocytopenia, and neutropenia. Non-immune pregnant women are at risk for fetal infection by parvovirus B19, with greater complications if transmission occurs in the first or second trimester. Infected fetuses may not show any abnormalities in most cases, but in more severe cases, there may be severe fetal anemia, hydrops, and even pregnancy loss. Maternal diagnosis of intrauterine parvovirus B19 infection includes IgG and IgM antibody testing. For fetal diagnosis, PCR is performed through amniocentesis. In addition to diagnosing the infection, it is important to monitor the peak of systolic velocity of the middle cerebral artery (PVS-MCA) Doppler to assess the presence of fetal anemia. There is no vaccine for parvovirus B19, and fetal management focuses on detecting moderate/severe anemia by fetal PVS-MCA Doppler, which, if diagnosed, should be treated with intrauterine transfusion by cordocentesis. Prevention focuses on reducing exposure in high-risk populations, particularly pregnant women.
PubMed: 38392573
DOI: 10.3390/jpm14020139 -
Geburtshilfe Und Frauenheilkunde Jan 2024The effectiveness of antenatal corticosteroids (ACS) in significantly reducing respiratory distress syndrome (RDS) depends crucially on the timing. It is successful if...
The effectiveness of antenatal corticosteroids (ACS) in significantly reducing respiratory distress syndrome (RDS) depends crucially on the timing. It is successful if delivery takes place between 24 hours and seven days following administration; after this period, the side effects seem to predominate. In addition, an increased rate of mental impairment and behavioral disorders are observed in children born full-term after ACS administration. The optimal timing of ACS administration depends crucially on the given indication; to date, it has been achieved in only 25-40% of cases. ACS administration is always indicated in PPROM, in severe early pre-eclampsia, in fetal IUGR with zero or reverse flow in the umbilical artery, in placenta previa with bleeding, and in patients experiencing premature labor with a cervical length < 15 mm. The risk of women with asymptomatic cervical insufficiency giving birth within seven days is very low. In this case, ACS should not be administered even if the patient's cervical length is less than 15 mm, provided that the cervix is closed and there are no other risk factors for a premature birth. The development of further diagnostic methods with improved power to predict premature birth is urgently needed in order to optimize the timing of ACS administration in this patient population. Caution when administering ACS is also indicated in women experiencing premature labor who have a cervical length ≥ 15 mm. Further studies using amniocentesis are needed in order to identify the patient population with microbial invasion of the amniotic cavity/intra-amniotic infection (MIAC/IAI), and to define threshold values at which delivery is indicated. ACS administration is not performed as an emergency measure, usually not even before transfer to a perinatal center. Therefore, whenever possible, the indication for ACS administration should be determined by a clinician who is highly experienced in perinatology.
PubMed: 38205043
DOI: 10.1055/a-2202-5363 -
Acta Obstetricia Et Gynecologica... Jan 2024The aim of this study is to evaluate the benefit of cytogenetic testing by amniocentesis after an ultrasound diagnosis of isolated bilateral talipes equinovarus. (Observational Study)
Observational Study
INTRODUCTION
The aim of this study is to evaluate the benefit of cytogenetic testing by amniocentesis after an ultrasound diagnosis of isolated bilateral talipes equinovarus.
MATERIAL AND METHODS
This multicenter observational retrospective study includes all prenatally diagnosed cases of isolated bilateral talipes equinovarus in five fetal medicine centers from 2012 through 2021. Ultrasound data, amniocentesis results, biochemical analyses of amniotic fluid and parental blood samples to test neuromuscular diseases, pregnancy outcomes, and postnatal outcomes were collected for each patient.
RESULTS
In all, 214 fetuses with isolated bilateral talipes equinovarus were analyzed. A first-degree family history of talipes equinovarus existed in 9.8% (21/214) of our cohort. Amniocentesis was proposed to 86.0% (184/214) and performed in 70.1% (129/184) of cases. Of the 184 karyotypes performed, two (1.6%) were abnormal (one trisomy 21 and one triple X syndrome). Of the 103 microarrays performed, two (1.9%) revealed a pathogenic copy number variation (one with a de novo 18p deletion and one with a de novo 22q11.2 deletion) (DiGeorge syndrome). Neuromuscular diseases (spinal muscular amyotrophy, myasthenia gravis, and Steinert disease) were tested for in 56 fetuses (27.6%); all were negative. Overall, 97.6% (165/169) of fetuses were live-born, and the diagnosis of isolated bilateral talipes equinovarus was confirmed for 98.6% (139/141). Three medical terminations of pregnancy were performed (for the fetuses diagnosed with Down syndrome, DiGeorge syndrome, and the 18p deletion). Telephone calls (at a mean follow-up age of 4.5 years) were made to all parents to collect medium-term and long-term follow-up information, and 70 (33.0%) families were successfully contacted. Two reported a rare genetic disease diagnosed postnatally (one primary microcephaly and one infantile glycine encephalopathy). Parents did not report any noticeably abnormal psychomotor development among the other children during this data collection.
CONCLUSIONS
Despite the low rate of pathogenic chromosomal abnormalities diagnosed prenatally after this ultrasound diagnosis, the risk of chromosomal aberration exceeds the risks of amniocentesis. These data may be helpful in prenatal counseling situations.
Topics: Pregnancy; Female; Child; Humans; Child, Preschool; Clubfoot; Amniocentesis; Retrospective Studies; DNA Copy Number Variations; Prenatal Diagnosis; Talipes; Chromosome Aberrations; Amniotic Fluid; Neuromuscular Diseases
PubMed: 37942915
DOI: 10.1111/aogs.14716 -
Frontiers in Genetics 2023Fetal ventriculomegaly (VM) is associated with neurodevelopmental disorders, partly caused by genetic factor. To systematically investigate the genetic etiology of...
Fetal ventriculomegaly (VM) is associated with neurodevelopmental disorders, partly caused by genetic factor. To systematically investigate the genetic etiology of fetal VM and related pregnancy outcomes in different subgroups: IVM (isolated VM) and NIVM (non-isolated VM); unilateral and bilateral VM; mild, moderate, and severe VM, a retrospective study including 131 fetuses with VM was carried out from April 2017 to August 2022. 82 cases underwent amniocentesis or cordocentesis, of whom 8 cases (9.8%) were found chromosomal abnormalities by karyotyping. Meanwhile, additional 8 cases (15.7%) with copy number variations (CNVs) were detected by copy number variation sequencing (CNV-seq). The detection rate (DR) of chromosomal abnormalities was higher in NIVM, bilateral VM and severe VM groups. And CNVs frequently occurred in NIVM, bilateral VM and moderate VM groups. In the NIVM group, the incidence of chromosomal aberrations and CNVs in multiple system anomalies (19.0%, 35.7%) was higher than that in single system anomalies (10.0%, 21.1%). After dynamic ultrasound follow-up, 124 cases were available in our cohort. 12 cases were further found other structural abnormalities, and lateral ventricular width was found increased in 8 cases and decreased in 15 cases. Meanwhile, 82 cases underwent fetal brain MRI, 10 cases of brain lesions and 11 cases of progression were additionally identified. With the involvement of a multidisciplinary team, 45 cases opted for termination of pregnancy (TOP) and 79 cases were delivered with live births. One infant death and one with developmental retardation were finally found during postnatal follow-ups. CNV-seq combined with karyotyping could effectively improve the diagnostic rate in fetuses with VM. Meanwhile, dynamic ultrasound screening and multidisciplinary evaluation are also essential for assessing the possible outcomes of fetuses with VM.
PubMed: 37795247
DOI: 10.3389/fgene.2023.1186660 -
Medeniyet Medical Journal Sep 2023Cytomegalovirus (CMV) is the most common viral infection. In this study, we discussed the results of pregnant women who underwent antenatal CMV screening in a tertiary...
OBJECTIVE
Cytomegalovirus (CMV) is the most common viral infection. In this study, we discussed the results of pregnant women who underwent antenatal CMV screening in a tertiary center and the value of CMV antenatal screening.
METHODS
For this retrospective study, the data of pregnant patients with antenatal CMV screening test results between 2019 and 2022 were obtained from hospital records. CMV immunoglobulin M (IgM), CMV IgG, anti-IgG avidity test results, amniocentesis, CMV polymerase chain reaction (PCR), and the outcome of the babies were recorded.
RESULTS
A total of 31,912 CMV IgM and 26,969 CMV IgG tests were performed. CMV IgG seropositivity was observed in 78.99% of pregnant women, and 0.09% of the pregnant women were confirmed to have a positive CMV IgM test result. Pregnant women with positive IgM accompanying low avidity were referred to perinatology clinics for detailed ultrasonography and amniocentesis. Only 3 of the 44 pregnant women who underwent amniocentesis were confirmed to have positive CMV PCR testing.
CONCLUSIONS
CMV screening should be preserved for pregnant women with ultrasonographic findings at high risk of congenital CMV infection.
PubMed: 37766584
DOI: 10.4274/MMJ.galenos.2023.84042