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Arch. argent. pediatr ; 119(3): e215-e228, Junio 2021. tab, ilus
Article in English, Spanish | LILACS, BINACIS | ID: biblio-1223321


A partir del estudio seminal Management of Myelomeningocele Study en el año 2011, el cual demostró que la reparación prenatal del defecto del mielomeningocele antes de la semana 26 mejoraba los resultados neurológicos, la cirugía fetal fue incorporada dentro de las opciones de estándar de cuidado. Así, el diagnóstico prenatal del mielomeningocele dentro de la ventana terapéutica se convirtió en un objetivo obligatorio y, por ello, se intensificó la investigación de estrategias de tamizaje, sobre todo, en el primer trimestre. Además, se desarrollaron distintas técnicas de cirugía fetal para mejorar los resultados neurológicos y disminuir los riesgos maternos. El objetivo de la siguiente revisión es actualizar los avances en tamizaje y diagnóstico prenatal en el primer y segundo trimestre, y en cirugía fetal abierta y fetoscópica del mielomeningocel

A seminal study titled Management of Myelomeningocele Study, from 2011, demonstrated that prenatal myelomeningocele defect repaired before 26 weeks of gestation improved neurological outcomes; based on this study, fetal surgery was introduced as a standard of care alternative. Thus, prenatal myelomeningocele diagnosis within the therapeutic window became a mandatory goal; therefore, research efforts on screening strategies were intensified, especially in the first trimester. In addition, different fetal surgery techniques were developed to improve neurological outcomes and reduce maternal risks. The objective of this review is to provide an update on the advances in prenatal screening and diagnosis during the first and second trimesters, and in open and fetoscopic fetal surgery for myelomeningocele

Humans , Male , Female , Pregnancy , Meningomyelocele/surgery , Fetus/surgery , Prenatal Care , Prenatal Diagnosis , Spinal Dysraphism , Meningomyelocele/diagnostic imaging , Fetal Therapies , Fetoscopy
Article in Chinese | WPRIM | ID: wpr-879628


OBJECTIVE@#To assess the value of chromosomal microarray analysis (CMA) to verify a fetus with partial 18p deletion signaled by non-invasive prenatal testing.@*METHODS@#G-banding chromosomal karyotyping analysis was carried out on amniotic fluid sample of the fetus and peripheral blood samples from the parents. Amniotic DNA was also subjected to CMA analysis. The fetus was also subjected to systematic ultrasound scan.@*RESULTS@#The fetus was found to have a karyotype of 46,XX,18p+. CMA has revealed a 5 Mb deletion at 18p11.32-p11.31, a 2.9 Mb duplication at 18p11.31-p11.23, and a 2.5 Mb duplication at 18p11.23-p11.22. No chromosomal aberration or microdeletion/microduplication was detected in either parent.@*CONCLUSION@#Non-invasive prenatal testing and CMA are both sensitive for the detection of chromosomal microdeletions and microduplications. CMA can help with clarification of genotype-phenotype correlation and facilitate prenatal diagnosis and genetic counseling for the family.

Chromosome Deletion , Chromosomes , Female , Fetus , Humans , Karyotyping , Pregnancy , Prenatal Diagnosis
Article in Chinese | WPRIM | ID: wpr-879607


OBJECTIVE@#To carry out prenatal diagnosis for a fetus with partial 18p deletion detected by non-invasive prenatal testing (NIPT).@*METHODS@#Peripheral blood and amniotic fluid samples of the pregnant woman and her husband were subjected to G-banded chromosomal karyotyping and more accurate chromosomal microarray analysis (CMA). The deletion sites were verified by fluorescence in situ hybridization (FISH) using centromeric probe Cep11 Aqua and telomeric probes Tel11q SO and Tel18 SG.@*RESULTS@#The karyotype of the fetus was determined as 46,XN,del(18)(p11.3). CMA has detected a 6.66 Mb deletion at 18p11.32-p11.31 (136 226-6 796 178). FISH confirmed the presence of a partial deletion at 18p. The mother was found to harbor the same deletion by chromosomal karyotyping as well as CMA analysis. No abnormality was found with the husband.@*CONCLUSION@#Although the fetus and its mother have both carried the same 18p deletion, no clinical manifestation was detected in the mother, which may be attributed to a low penetrance of the disorder. The fetus had died at 33 weeks of gestation with unknown cause.

Chromosome Deletion , Female , Fetus , Genetic Testing , Humans , In Situ Hybridization, Fluorescence , Karyotyping , Pregnancy , Prenatal Diagnosis
Article in Chinese | WPRIM | ID: wpr-879579


OBJECTIVE@#To explore the value of non-invasive prenatal testing (NIPT) for the detection of fetal chromosome copy number variations (CNVs).@*METHODS@#Clinical data of 18 661 pregnant women who underwent NIPT were collected. For fetuses suspected for carrying CNVs, amniotic fluid samples were collected for chromosomal karyotyping and/or chromosomal microarray analysis (CMA).@*RESULTS@#Among all samples, NIPT suggested that 58 fetuses carried trisomy 21, 18 carried trisomy 18, 19 carried trisomy 13, 1 carried trisomies 18 and 21. Eighty eight women accepted invasive prenatal diagnosis. The results of CMA in 59 cases were consistent with those of NIPT, which yielded a consistency rate of 67.05%. In addition, 37 cases of fetal CNVs were detected by NIPT, of which 19 (15 microdeletions and 4 microduplications) have accepted invasive prenatal diagnosis. In 14 cases, the results were consistency with those of NIPT, with a consistent rate of 73.68%.@*CONCLUSION@#NIPT features high sensitivity and accuracy. Invasive prenatal diagnosis should be considered for CNVs detected by NIPT, and by tracing its parental origin, it can provide guidance for clinical practice.

Chromosomes , DNA Copy Number Variations , Female , Fetus , Humans , Pregnancy , Prenatal Diagnosis , Trisomy/genetics
Article in Chinese | WPRIM | ID: wpr-879577


OBJECTIVE@#To analyze the indication, karyotyping result, ultrasound finding, pregnancy decision and follow-up of fetuses with sex chromosome aneuploidies (SCA) detected by non-invasive prenatal testing (NIPT) during early and midterm pregnancies.@*METHODS@#The results of 225 singleton pregnancies with fetal SCA detected by NIPT were reviewed and analyzed.@*RESULTS@#The 225 cases included 45,X (n=37), 47,XXY (n=74), 47,XXX (n=50), 47,XYY (n=56) and mosaicisms (n=8), among which 121 (53.8%) have opted to terminate the pregnancy, including 45,X (n=31), 47,XXY (n=61), 47,XXX (n=14), 47,XYY (n=12) and 3 mosaicisms. The remainder 104 (46.2%) have elected to continue with the pregnancy, among which three have opted to terminate due to abnormalities detected by ultrasonography, and two had spontaneous abortions.@*CONCLUSION@#NIPT as a first-tier screening method can effectively detect fetal trisomies 21, 13 and 18 as well as SCA. The types of fetal SCA and presence of ultrasound abnormalities are critical factors for the termination of pregnancy.

Aneuploidy , Down Syndrome , Female , Fetus , Humans , Pregnancy , Prenatal Diagnosis , Sex Chromosome Aberrations , Trisomy
Article in Chinese | WPRIM | ID: wpr-879568


OBJECTIVE@#To assess the value of chromosomal microarray analysis (CMA) for the prenatal diagnosis of a fetus with structural anomaly detected by ultrasonography.@*METHODS@#The fetus and its parents were subjected to chromosomal karyotyping and CMA analysis.@*RESULTS@#The fetus was found to carry a 46,XN,t(8;11)(q21.2;q13) translocation which was inherited from its mother. CMA has found no copy number variations (CNVs) in both parents but a de novo 2.00 Mb microdeletion in the fetus at 8q13.3.@*CONCLUSION@#CMA is capable of detecting microdeletions and microduplications in fetuses with translocations detected by karyotyping analysis.

Chromosome Aberrations , Chromosome Deletion , Chromosomes, Human, Pair 8 , DNA Copy Number Variations , Female , Fetus , Humans , Karyotyping , Microarray Analysis , Pregnancy , Prenatal Diagnosis
Article in Chinese | WPRIM | ID: wpr-879558


OBJECTIVE@#To reported on two fetuses diagnosed with 17q12 microdeletion syndrome.@*METHODS@#The two fetuses were respectively found to have renal abnormalities and polyhydramnios upon second and third trimester ultrasonography. Umbilical cord blood of the first fetus and amniotic fluid of the second fetus were subjected to single nucleotide polymorphism array (SNP-array) analysis. After 17q12 microdeletion was found in the first fetus, SNP-array was carried out on peripheral blood samples of the parents to determine its origin. With the medical history of the parents taken into consideration, the father underwent high-throughput sequencing for 565 urinary system-related genes to exclude pathogenic or likely pathogenic variants associated with congenital malformations of the urinary and reproductive systems.@*RESULTS@#In both fetuses, SNP-array has revealed a 1.42 Mb deletion at 17q12, or arr[hg19]17q12 (34 822 465-36 243 365) × 1. In both cases the microdeletion was inherited from the father, in whom no urinary disease-related pathogenic or likely pathogenic variants was identified.@*CONCLUSION@#Paternally derived 17q12 microdeletions probably underlay the genetic etiology of the two fetuses with renal ultrasound abnormalities and polyhydramnios. SNP-array can enable the diagnosis and facilitate genetic counseling and prenatal diagnosis for the families.

Chromosome Deletion , Chromosome Disorders , Chromosomes, Human, Pair 17 , Female , Fetus , Genetic Counseling , Genetic Testing , Humans , Polyhydramnios/genetics , Pregnancy , Prenatal Diagnosis
Article in Chinese | WPRIM | ID: wpr-879555


OBJECTIVE@#To assess the value of chromosomal microarray analysis (CMA) for fetal duodenal obstruction (DO).@*METHODS@#Fifty-one fetuses with DO identified by prenatal ultrasound were divided into DO only group and DO with other anomaly group. CMA was carried out on amniotic fluid or umbilical blood samples, and the outcome of pregnancy of all cases were followed up.@*RESULTS@#Eight fetuses (15.7%) were found with genomic abnormalities, which included 3 chromosomal aneuploidies and 5 copy number variations (CNVs), including one 17q12 microduplication syndrome, one 13q21.33q31.1 microdeletion, one 13q21.32q22.3 deletion, one 13q21.2q31.1 deletion and one 1q43q44 duplication. EDNRB from 13q and HNF1B from 17q12 are candidate genes for fetal DO. No significant difference was found in the detection rate of pathogenic CNVs between the DO only and DO with other anomaly groups (9.5% vs.11.1%, P> 0.05). There were 39 live borns, 1 stillbirth, and 11 artificial abortions (8 with abnormal CMA results).@*CONCLUSION@#There is a correlation between fetal DO and abnormal copy number of the genome, for which prenatal diagnosis is necessary. CMA not only can detect microdeletions/microduplications, but also identify pathogenic genes, which can facilitate prenatal diagnosis, genetic counseling and prognosis for the fetus.

Chromosome Aberrations , DNA Copy Number Variations , Duodenal Obstruction/genetics , Female , Fetus , Humans , Microarray Analysis , Pregnancy , Prenatal Diagnosis
Article in Chinese | WPRIM | ID: wpr-879539


OBJECTIVE@#To perform prenatal diagnosis for a woman carrying a balanced translocation.@*METHODS@#Clinical phenotype of the woman and her first child was analyzed. Peripheral blood sample of the woman and amniotic fluid sample from two subsequent pregnancies were subjected to chromosomal karyotyping and copy number variation analysis through next-generation sequencing (NGS).@*RESULTS@#The karyotypes of the woman and her first child were determined as 46,XX,t(5;6)(p15:p23) and 46,XX,?der(5),t(5;6)(p15.32;p22.3), respectively. The karyotype of the amniocyte from her second pregnancy was 46,XN,t(5;6)(p15:p23). No pathogenic copy number variation was detected. The karyotype of her third pregnancy was 46,XN,?der(5),t(5;6)(p15.32;p22. 3), in addition with a 6.04 Mb deletion at 5p15.33p15.32 (20 000 - 6 060 000) and a 18.50 Mb duplication at 6p25.3p22.3 (160 000 - 18 660 000).@*CONCLUSION@#Combined karyotyping analysis and NGS has enabled detection of fetal copy number variations for a woman carrying a balanced chromosomal translocation.

Child , DNA Copy Number Variations , Female , Fetus , High-Throughput Nucleotide Sequencing , Humans , Karyotype , Karyotyping , Pregnancy , Prenatal Diagnosis
Article in Chinese | WPRIM | ID: wpr-879526


OBJECTIVE@#To explore the genetic basis for a fetus with lissencephaly.@*METHODS@#Genomic DNA was extracted from amniotic fluid sample and subjected to copy number variation (CNV) analysis.@*RESULTS@#The fetus was found to harbor a heterozygous 5.2 Mb deletion at 17p13.3p13.2, which encompassed the whole critical region of Miller-Dieker syndrome (MDS) (chr17: 1-2 588 909).@*CONCLUSION@#The fetus was diagnosed with MDS. Deletion of the PAFAH1B1 gene may account for the lissencephaly found in the fetus.

1-Alkyl-2-acetylglycerophosphocholine Esterase/genetics , Chromosome Deletion , Chromosomes, Human, Pair 17/genetics , Classical Lissencephalies and Subcortical Band Heterotopias/genetics , Female , Fetus , Genetic Testing , Humans , Microtubule-Associated Proteins/genetics , Pregnancy , Prenatal Diagnosis
Article in Chinese | WPRIM | ID: wpr-879525


OBJECTIVE@#To carry out genetic testing for an abortus suspected with Cornelia de Lange syndrome (CdLS).@*METHODS@#History of gestation and the family was taken. Combined with prenatal ultrasonography and the phenotype of the abortus, a diagnosis was made for the proband. Fetal tissue and peripheral blood samples of its parents were collected for the extraction of genomic DNA. Whole exome sequencing was carried out to detect mutations related to the phenotype. Suspected mutations were verified in the parents through Sanger sequencing.@*RESULTS@#Prenatal ultrasound found that the forearms and hands of the fetus were anomalous, in addition with poorly formed vermis cerebellum, slight micrognathia, and increased echo of bilateral renal parenchyma. Examination of the abortus has noted upper limb and facial malformations. Whole exome sequencing revealed that the fetus carried a heterozygous c.2118delG (p.Lys706fs) frameshift mutation of the NIPBL gene. The same mutation was not found in either parent.@*CONCLUSION@#The heterozygous c.2118delG (p.Lys706fs) frameshift mutation of the NIPBL gene probably underlies the CdLS in the fetus. Above finding has provided a basis for the genetic counseling for the family.

Cell Cycle Proteins/genetics , DNA Mutational Analysis , De Lange Syndrome/pathology , Female , Fetus , Humans , Male , Mutation , Phenotype , Pregnancy , Whole Exome Sequencing
Article in Chinese | WPRIM | ID: wpr-880461


Fetal heart rate plays an essential role in maternal and fetal monitoring and fetal health detection. In this study, a method based on Poincare Plot and LSTM is proposed to realize the high performance classification of abnormal fetal heart rate. Firstly, the original fetal heart rate signal of CTU-UHB database is preprocessed via interpolation, then the sequential fetal heart rate signal is converted into Poincare Plot to obtain nonlinear characteristics of the signals, and then SquenzeNet is used to extract the features of Poincare Plot. Finally, the features extracted by SqueezeNet are classified by LSTM. And the accuracy, the true positive rate and the false positive rate are 98.00%, 100.00%, 92.30% respectively on 2 000 test set data. Compared with the traditional fetal heart rate classification method, all respects are improved. The method proposed in this study has good performance in CTU-UHB fetal monitoring database and has certain practical value in the clinical diagnosis of auxiliary fetal heart rate detection.

Databases, Factual , Female , Fetal Monitoring , Fetus , Heart Rate, Fetal , Humans , Pregnancy
São Paulo; s.n; 2021. 291 p.
Thesis in Portuguese | LILACS | ID: biblio-1152062


Introdução: O aumento da adiposidade no ambiente intrauterino e alterações na composição corporal neonatal podem estar relacionados com obesidade e doenças crônicas no futuro. O ganho de peso gestacional (GPG) está associado à obesidade infantil, porém, estudos que avaliaram a relação entre o GPG materno e a composição corporal do concepto revelaram resultados inconsistentes, especialmente no que se refere à adiposidade fetal. Objetivo: Avaliar a relação entre o GPG materno e a adiposidade do feto e composição corporal neonatal. Métodos: Estudo epidemiológico prospectivo do tipo coorte, realizado em Araraquara e região, envolvendo gestantes atendidas em 34 Unidades de Saúde do SUS e na Maternidade Municipal "Gota de Leite". As gestantes foram acompanhadas em três períodos gestacionais (≤19, 20-29 e 30-39 semanas), durante o parto, e posteriormente até 72 horas após o parto. Foram avaliadas 1005 gestantes no 1º período gestacional, 1002 pares de gestantes e fetos no 2º período, 991 pares de gestantes e fetos no 3º período e 412 pares de mães e respectivos neonatos. A taxa de ganho de peso (TGP) foi calculada a partir da diferença entre o peso aferido no período gestacional específico menos o peso avaliado no período gestacional anterior, dividido pelo número de semanas correspondente a esse intervalo. O GPG total foi obtido pela diferença entre o peso aferido na data do parto e o peso pré-gestacional e classificado em insuficiente, adequado e excessivo, de acordo com a última diretriz do Institute of Medicine (IOM). A adiposidade fetal e a composição corporal do neonato foram avaliadas, respectivamente, por ultrassonografia e pletismografia por deslocamento de ar. Modelos de regressão linear múltipla foram construídos de acordo com um conjunto de ajustes mínimos suficientes sugeridos por gráficos acíclicos direcionados, considerando os seguintes fatores de confusão: idade, cor da pele/etnia, escolaridade, renda per capita, tabagismo, ingestão de alcool, paridade, diabetes mellitus, hipertensão arterial, altura, IMC pré-gestacional, sexo, idade gestacional ao nascer, horas de vida do neonato. O nível de significância em todos os testes foi α = 5%. Resultados: Durante o 2º período gestacional, verificou-se que para cada 0,1 kg/semana da TGP, houve um aumento de 0,222 mm (p=0,012), 0,462 cm2 (p <0,001), e 0,310 cm2 (p <0,001) no tecido adiposo subcutâneo do abdômen, coxa e braço do feto, respectivamente. Também houve associação entre a TGP materna no 3º período gestacional e deposição de gordura subcutânea no braço (ß=0,484 cm2; p=0,001) e na coxa (ß=0,480 cm2; p=0,049) do feto. Quanto à composição corporal neonatal, observou-se que para cada 1 kg do GPG total houve aumento de 0,004 Kg (p=0,002) na massa gorda, 0,084% (p=0,025) no percentual de massa gorda e 0,009 Kg (p <0,001) na massa livre de gordura do neonato. Crianças de mulheres com GPG total insuficiente apresentaram massa livre de gordura 0,104 kg (p=0,009) menor que os neonatos de mães com GPG total adequado. Conclusão: De acordo com nosso conhecimento, este é o primeiro estudo na literatura internacional que investigou a associação entre ganho de peso materno e adiposidade fetal e composição corporal neonatal. Os resultados mostram um impacto diferente da TGP materno sobre o acúmulo de gordura fetal, de acordo com o período gestacional investigado. Também houve associação positiva entre GPG total e massa gorda, percentual de massa gorda e massa livre de gordura do neonato. Mães com GPG total insuficiente tiveram neonatos com menor massa livre de gordura.

Introduction: The increase in adiposity in the intrauterine environment and changes in neonatal body composition may be related to obesity and chronic diseases in the future. Gestational weight gain (GWG) is associated with childhood obesity, however, studies that evaluated the relationship between the maternal GWG and the body composition of the fetus revealed inconsistent results, especially with regard to fetal adiposity. Objective: To evaluate the relationship between maternal GWG and adiposity of the fetus and body composition of the newborn. Methods: This is an epidemiological prospective cohort study, carried out in Araraquara and region, involving pregnant women attended at 34 Health Units from the Brazilian National Health Service - SUS and at the Municipal Maternity "Gota de Leite". The pregnant women were followed up in the respective gestational periods: ≤ 19, 20-29 and 30-39 weeks, during delivery, and later up to 72 hours after delivery. One thousand and five (1005) pregnant women were evaluated in the 1st period of pregnancy, 1002 pairs of pregnant women and fetuses in the 2nd period, 991 pairs of pregnant women and fetuses in the 3rd period, and 412 pairs of mothers and newborns. The rate of weight gain (RWG) was calculated based on the difference between the weight measured in the gestational period minus the weight assessed in the previous gestational period, divided by the number of weeks corresponding to that interval. GWG was obtained by the difference between the weight measured at the date of delivery and the pre-gestational weight, and classified as insufficient, adequate, and excessive, according to the last guidelines of the Institute of Medicine (IOM). The fetal adiposity and body composition of the newborn were evaluated, respectively, by ultrasound and plethysmography by air displacement. Multiple linear regression models were constructed considering a set of sufficient minimum adjustments suggested by directed acyclic graphs, considering the following confounders: age, skin color/ethnicity, schooling, per capita income, smoking, alcohol intake, parity, diabetes mellitus, arterial hypertension, height, pre-gestational BMI, sex, gestational age at birth, hours of life of the newborn. The level of significance in all tests was α = 5%. Results: During the 2nd gestational period, it was found that for each 0.1 kg/week of RWG, there was an increase of 0.222 mm (p = 0.012), 0.462 cm2 (p<0.001), and 0.310 cm2 (p<0.001) in subcutaneous adipose tissue in the abdomen, thight and arm of the fetus, respectively. There was also an association between the RWG in the 3rd gestational period and deposition of subcutaneous fat in the arm (ß=0.484 cm2; p=0.001) and thigh (ß=0.480 cm2; p=0.049) of the fetus. Concerning the newborn's body composition, it was observed that for each 1 kg of total GWG there was an increase of 0.004 Kg (p=0.002) in the fat mass, 0,084% (p=0.025) in the percentage of fat mass, and 0.009 Kg (p<0.001) in the fat-free mass of the newborn. Considering the guidelines of the IOM, neonates of mothers who had an insufficient total GWG had a fat-free mass of 0.104 kg (p=0.009) less than those born to women with adequate total GWG. Conclusion: As far as we know, this is the first study in the international literature that investigated the association between maternal weight gain in three different periods of gestation and fetal adiposity and newborn adiposity. The results show a different impact of the maternal RWG on the accumulation of fetal fat, according to the gestational period investigated. There was also a positive association between total GWG and mass fat, percentage of fat mass, and fat-free mass of the fetus, regardless of pre-gestational BMI. Women with insufficient total GWG had neonates with lower fat-free mass.

Body Composition , Infant, Newborn , Adiposity , Fetus , Gestational Weight Gain , Pediatric Obesity
São Paulo; s.n; 2021. 99 p.
Thesis in Portuguese | LILACS | ID: biblio-1342174


Introdução - As elevadas taxas de mortalidade neonatal e a prevalência de bebês nascidos pequenos para idade gestacional (PIG) ainda apresentadas por regiões de baixa e média renda indicam a necessidade de investigação sobre fatores que influenciam o crescimento fetal. Medidas biométricas fetais

Introduction Elevated rates of neonatal mortality and small-for-gestational-age (SGA) babies in low- and middle-income regions indicate the need to investigate factors associated with fetal growth. Fetal biometric measurements below the 10th percentile for gestational age (GA) reflect failure in achieving growth potential and provide opportunities for prenatal interventions. Objective To investigate factors associated with fetal biometric measurements below the 10th percentile assessed at early third trimester among pregnant women in the MINA-Brazil study. Methods This was a prospective analysis of pregnant women living in the urban area of Cruzeiro do Sul (AC), followed up since the antenatal period. Screening of participants took place from February 2015 to January 2016. A sociodemographic and health history interview was carried out along with two clinical assessments, scheduled between the second and third trimesters of pregnancy, to collect data on lifestyle factors and complications during pregnancy, anthropometric evaluation, blood collection, and ultrasound scan assessing fetal biometric measurements of head circumference (HC), abdominal circumference (AC) and femoral length (FL). Poisson regression models with hierarchical selection of variables were fitted for factors associated with occurrence of fetal measurements below the 10th percentile at early third trimester. Prevalence ratios (PR) and 95% confidence intervals (95%CI) were estimated. Results Among 426 participants (mean age 25 years (SD 6.4) and gestational age 27.8 weeks (SD 1.7)), 11.3%, 8.9% e 9.4% had fetuses with HC, AC, FL below the 10th percentile at early third trimester. Fetal biometric measurements below the 10th percentile were negatively associated with higher maternal education level, which denoted over 50% of protection (HC: PR 0.47, 95%CI 0.28; 0.81; AC: PR 0.48, 95%CI 0.26; 0.87; and FL: PR 0.48, 95%CI 0.27; 0.86). Adjusted for maternal education level, nulliparity (PR 1.94, 95%CI 1.10; 3.43), higher pre-gestational body mass index (BMI) (PR 1.06, 95%CI 1.01; 1.11), and pre-gestational alcohol consumption (PR 1.80, 95%CI 0.98; 3.30) were associated with HC measurements below the 10th percentile. Maternal height (p for trend 0.039) and pre-gestational alcohol consumption (PR 2.55, 95%CI 1.31; 4.96) were also associated with AC measurements below the 10th percentile. Association between higher average screen time per day during antenatal follow-up and FL measurements below the 10th percentile were observed as well (p for trend 0.031). Higher maternal education level, which may provide better material and non-material conditions, seems to protect fetal growth from failure to reach potential fetal size for GA. Positive associations observed with obstetric and antenatal conditions may be mediated by biological factors or gestational dysfunctions to incur in fetal measurements below the 10th percentile. Conclusion The occurrence of fetal biometric measurements below the 10th percentile for GA and their associated factors corroborate pre-pregnancy and antenatal care improvements anchored in equity policies, and for new strategies prior to birth that optimize the window of opportunity in the first thousand days of life.

Infant, Small for Gestational Age , Cephalometry , Biometry , Abdominal Circumference , Femur/growth & development , Fetal Growth Retardation , Fetus
Chinese Medical Journal ; (24): 1416-1421, 2021.
Article in English | WPRIM | ID: wpr-878165


BACKGROUND@#One inevitable shortcoming of non-invasive prenatal screening (NIPS)/cell-free DNA (cfDNA) sequencing is the uninterpretable ("no-call") result, which is mainly caused by an insufficient fetal fraction. This study was performed to investigate the factors associated with a successful second NIPS in these cases and determine the optimal management for women with initial no-call results.@*METHODS@#We retrospectively analyzed the data of women who underwent NIPS with initial no-call results due to an insufficient fetal fraction from 2017 to 2019 in our center. We compared these women's maternal and pregnancy information with the data of women who had attained a successful second NIPS result and women who had received no-call results for a second time.@*RESULTS@#Among the 33,684 women who underwent NIPS, 137 with a no-call result underwent a retest. Comparison between the 87 (63.50%) women with a successful retest and the other 50 (36.50%) women showed a significant difference in both the initial fetal fraction and maternal body mass index (BMI), whereas the other factors showed no significant differences. In addition, with an initial fetal fraction of < 2.00%, the retest success rate was very limited.@*CONCLUSIONS@#We identified two major factors associated with a successful NIPS retest: the initial fetal fraction and the maternal BMI. These findings suggest the need for specialized management for this subset of women and would be instructional for the counseling for these women.

Cell-Free Nucleic Acids , China , Female , Fetus , Humans , Pregnancy , Prenatal Diagnosis , Retrospective Studies
Gac. méd. boliv ; 43(2): 228-231, dic. 2020. ilus
Article in Spanish | LILACS | ID: biblio-1249989


TRAP describe la perfusión crónica de un gemelo acardíaco por un gemelo de bomba a través de canales vasculares entrelazados permeables. La secuencia TRAP ocurre en 1 de cada 35.000 nacimientos o en 1 de cada 100 pares de gemelos monocigóticos. Se diagnostica mediante los hallazgos ecográficos de un feto de desarrollo normal y una masa amorfa con frecuencia con partes fetales perceptibles. El Doppler color revela el flujo sanguíneo reverso hacia el gemelo acardíaco dentro de la arteria umbilical lo que lleva a las complicaciones típicas del cuadro. El manejo expectante es razonable en ausencia de características pronósticas deficientes. El propósito de este artículo es revisar los aspectos básicos y el estado actual de esta condición, haciendo énfasis en el diagnóstico y el manejo expectante.

TRAP describes the chronic perfusion of an acardiac twin by a pump twin through permeable interlocking vascular channels. TRAP occurs in 1 in 35,000 births or 1 in 100 pairs of monozygotic twins. It is diagnosed by ultrasound findings of a normally developing fetus and an amorphous mass often with noticeable fetal parts. Color Doppler reveals the reverse blood flow to the acardiac twin within the umbilical artery, leading to typical complications of the condition. Expectant management is reasonable in the absence of poor prognostic characteristics. The purpose of this article is to review the basic aspects and current status of this condition, emphasizing the diagnosis and expectant management.

Female , Adult , Fetus , Perfusion , Twins , Blood
Int. j. morphol ; 38(5): 1250-1257, oct. 2020. tab, graf
Article in English | LILACS | ID: biblio-1134433


SUMMARY: Residential heating with wood is an important source of ambient air pollution. Evidence links air pollution to serious health effects such as respiratory and cardiovascular mortality and morbidity. We hypothesized that prenatal exposure to wood smoke pollution causes morphological changes in the development of the rat lung, leading to altered lung structure and function during later life. We presumed that analysis of the fetal lung stereology provides novel insights into the underlying processes mediating particulate matter associated developmental changes and damage. The objective of the study was to investigate the effects of exposure during gestational period to wood smoke pollution on lung fetal morphology. To test this, pregnant rats were exposed during pregestational and gestational periods to wood smoke pollution. Complete lungs samples were obtained from 24 fetus from healthy female G3 rats subjected to cesarean at 19 days post-fecundation. The lungs were prepared for histological and stereological analysis. The volume fraction of terminal bronchioles VV [tb, lung] and volume fraction of parenchyma VV [par, lung], surface density of terminal bronchioles SV [tb, lung] as well as numerical density of bronchiolar exocrinocytes NA [ec,lung] were calculated by light microscopy. Statistical analysis detected significant differences between groups in volume density VV [tb, lung; %] (p=0.0012) and surface density SV [tb, lung; mm2/mm3] (p<0.0001) of the terminal bronchioles. However, it did not show differences between groups in the stereological parameter volume density VV [par, lung; %] (p=0.0838) and numerical density of bronchiolar exocrinocytes NA [ec,lung; nº/mm2] (p=0.0705). The analysis of the evidence obtained indicates that exposure to environmental pollution was affects lung maturation, and particularly the proportion and area of terminal bronchioles in the fetal lung. In conclusion, maternal exposure to wood smoke pollution during pregnancy was associated with a decrease in the lower conducting airways of lungs, which, according to urban pollution studies, could be related to early childhood lower respiratory illness. The public health implications of this study are that reducing or avoiding exposure to wood smoke is important before and during pregnancy.

RESUMEN: La calefacción residencial con leña es una fuente importante de contaminación ambiental. La evidencia vincula la contaminación del aire con graves efectos sobre la salud, como la mortalidad y la morbilidad respiratoria y cardiovascular. Hipotetizamos que la exposición prenatal a la contaminación por humo de leña causa cambios en el desarrollo del pulmón de rata, lo que conduce a una morfo-función pulmonar alteradas durante la vida posterior, creemos que el análisis de la estereología pulmonar fetal proporcionará nuevos conocimientos sobre los procesos subyacentes que median esos cambios. El objetivo del estudio fue investigar los efectos de la exposición prenatal a la contaminación ambiental por humo de leña sobre la morfología pulmonar fetal. Ratas preñadas fueron expuestas durante los períodos pregestacional y gestacional a la contaminación por humo de leña. En fetos de 19 días post-fecundación fue obtenido el pulmón para análisis histológico y estereológico. Fue determinado la fracción de volumen de bronquiolos terminales VV [tb, pulmón], fracción de volumen del parénquima VV [par, pulmón], densidad superficial de los bronquiolos terminales SV [tb, pulmón] así como la densidad numérica de exocrinocitos NA [ec, pulmón]. El análisis estadístico detectó diferencias significativas entre grupos en la densidad de volumen V [tb, pulmón; %] (p=0,0012) y densidad superficial SV [tb, pulmón; mm2/mm3] (p<0,0001) de los bronquiolos terminales. Sin embargo, no demostró diferencias entre grupos en la densidad de volumen VV [par, pulmón; %] (p=0,0838) y numérica de exocrinocitos bronquiolares NA [ec, pulmón; nº / mm ] (p=0,0705). El análisis de la evidencia obtenida indica que la exposición a la contaminación ambiental afectó la maduración pulmonar, y particularmente la proporción y área de bronquiolos terminales en el pulmón fetal. En conclusión, la exposición materna a la contaminación por humo de leña durante la gestación se asoció a una disminución de las vías respiratorias conductoras de aire en pulmón, lo que, según estudios de contaminación urbana, podría estar relacionado con enfermedades de las vías respiratorias inferiores en la primera infancia. Las implicaciones para la salud pública de este estudio son que reducir o evitar la exposición al humo de leña es importante previo y durante la gestación. Por otro lado, la contaminación por humo de leña tiene un gran impacto en la salud pública que, en teoría, es posible prevenir.

Animals , Female , Pregnancy , Rats , Air Pollutants/toxicity , Air Pollution/adverse effects , Lung/drug effects , Smoke/adverse effects , Wood , Analysis of Variance , Maternal Exposure/adverse effects , Disease Models, Animal , Environmental Exposure , Particulate Matter/toxicity , Fetus/drug effects , Heating , Lung/pathology
Int. j. morphol ; 38(5): 1356-1364, oct. 2020. tab, graf
Article in English | LILACS | ID: biblio-1134448


SUMMARY: Studies in humans showed that prenatal exposure to urban air pollution (AP) influences fetal development, and increases the incidence of adverse pregnancy outcomes and some diseases in postnatal life. However, most of these were performed in environments where the main source of environmental particulate matters (PM) emission is diesel combustion by motor vehicles and industries, thereby ignoring the effects produced by wood smoke pollution. We hypothesized that morphological changes in the placenta could contribute to the reduction in fetal size associated with different periods of exposure to AP produced by wood smoke pollution prior to and during pregnancy. The objective of the study was to investigate the quantitative effects of long-term exposure to environmental levels of wood smoke pollution on the macroscopic and microscopic morphology of the placenta in rats. To test this, pregnant rats were exposed during pregestational and gestational periods to wood smoke pollution in indoor and outdoor environments. At 19 days of gestation, the placentas were obtained by caesarean and were prepared for histological, planimetric and stereological analysis. The volume and proportions of the placental compartments were estimated. In addition, stereological estimators in fetal capillaries were calculated in the labyrinth region. Crown rump length, fetus weight and litter weight were influenced by pregestational and gestational exposure periods. Exposure to wood smoke pollution during pregestational period has significant effect on the volume of the placenta, and consequently on fetal height. In conclusion, this study demonstrated that long-term outdoor exposure to wood smoke pollution from residential heating affects fetal health, decreasing the absolute volume of the entire placenta and the placental interface between the mother and fetus, decreasing the total volume of blood vessels present in the labyrinth region ofthe placenta and affecting the size of the fetus.

RESUMEN: Estudios en humanos demostraron que la exposición prenatal a la polución del aire urbano influye en el desarrollo fetal y aumenta la incidencia de resultados adversos de la gestación y algunas enfermedades postnatales. Sin embargo, la mayoría de ellos fueron realizados en entornos donde la principal fuente de emisión de material particulado, fue la combustión de petróleo por vehículos a motor e industrias, ignorando los efectos producidos por el humo de leña producido por la calefacción intradomiciliaria. Hipotetizamos respecto a que los cambios de la placenta contribuirían a la disminución del tamaño fetal relacionado a los períodos de exposición al humo de leña durante los periodos pregestacional y gestacional. El objetivo del estudio fue investigar los efectos cuantitativos de la exposición al humo de leña sobre la morfología macroscópica y microscópica en placenta de ratas. Para probar esto, ratas preñadas fueron expuestas durante los períodos pregestacional y gestacional a la contaminación por humo de leña en ambientes interiores y exteriores. A los 19 días de gestación, las placentas fueron obtenidas por cesárea y fueron preparadas para un análisis histológico, planimétrico y estereológico. Fue estimado el volumen absoluto y las proporciones de los compartimentos placentarios. Además, fueron calculados estimadores estereológicos en capilares fetales del laberinto y trofoblasto. La longitud, el peso del feto y el peso de la camada fueron influenciados por los períodos de exposición pregestacional y gestacional. La exposición a la contaminación por humo de leñá durante el período pregestacional tuvo un efecto significativo en el volumen de la placenta y, en consecuencia, en la altura del feto. En conclusión, este estudio demostró que la exposición a largo plazo al humo de leña afecta la salud del feto, disminuyendo el volumen absoluto de la placenta, además, afecta la interfaz placentaria entre la madre y feto, disminuyendo el volumen total de vasos sanguíneos presentes en la región del laberinto placentario y por consecuente afectando el tamaño del feto.

Animals , Female , Pregnancy , Rats , Placenta/drug effects , Smoke/adverse effects , Air Pollutants/toxicity , Fetus/drug effects , Wood , Rats, Sprague-Dawley , Maternal Exposure/adverse effects , Combustion/adverse effects , Body Size , Fetal Development/drug effects , Environmental Pollution/adverse effects , Particulate Matter
Rev. colomb. obstet. ginecol ; 71(3): 286-296, jul.-set. 2020. tab, graf
Article in Spanish | LILACS | ID: biblio-1144391


RESUMEN Objetivo: reportar un caso de mola parcial con feto vivo y realizar una revisión de la literatura sobre las complicaciones maternas y fetales asociadas a esta condición. Materiales y métodos: se presenta el reporte de un caso de mola parcial y feto vivo de 33 semanas, complicado por restricción de crecimiento intrauterino, oligoamnios y preeclampsia severa. Después de seguimiento del recién nacido a un año reportamos un resultado satisfactorio materno-fetal. Se realiza una búsqueda de la literatura en Medline vía PubMed, Lilacs, OVID, Uptodate y Google Scholar, con los siguientes términos MESH: "hiditadiform mole", "partial mole", "live fetus", "coexisting live fetus". Se seleccionaron estudios de series de caso y reportes de caso de gestantes con coexistencia de mola parcial y feto vivo al momento del diagnóstico, y se extrajo información sobre el pronóstico materno-fetal. Resultados: se identificaron inicialmente 129 títulos relacionados, de los cuales 29 cumplieron los criterios de inclusión, 4 artículos fueron excluidos por no obtener acceso al texto completo. Se analizaron 31 casos reportados, 9 casos terminaron en aborto, 8 terminaron en óbito o muerte perinatal y 14 (45 %) casos terminaron con un recién nacido vivo. La complicación materna más frecuente fue preeclampsia, en 6 (19,35 %) casos. Conclusión: la coexistencia de mola parcial con feto vivo presenta un riesgo alto de resultado perinatal adverso y preeclampsia. Se requiere más información sobre esta rara condición para determinar de mejor manera posibles intervenciones en los casos de fetos euploides y dar una adecuada asesoría en la práctica clínica, por lo que es importante el reporte de estos casos para tener suficiente evidencia sobre el comportamiento natural de la enfermedad.

ABSTRACT Objective: To report the case of a partial molar pregnancy with live fetus and conduct a review of the literature regarding maternal and fetal complications associated to this condition. Materials and methods: Case report of a partial mole with a 33 weeks live fetus complicated by intrauterine growth restriction, oligohydramnios and severe preeclampsia. We report satisfactory maternal and neonatal outcomes and 1-year follow-up. A search was conducted in the Medline via Pubmed, Lilacs, Ovid, Uptodate and Google Scholar databases using the following MESH terms: hiditadiform mole, partial mole, live fetus, coexisting live fetus. Case series and case reports of pregnant women with coexisting partial mole and live fetus at the time of diagnosis were selected and information regarding maternal and fetal prognosis was extracted Results: Initially, 129 related titles were identified. Of these, 29 met the inclusion criteria, and 4 articles were excluded due to failed access to the full text. Overall, 31 reported cases were included; 9 ended in miscarriage, 8 in fetal demise or perinatal death, and 14 (45 %) resulted in a live neonate. The most frequent maternal complication was preeclampsia in 6 (19.35 %) cases. Conclusion: The coexistence of a partial mole with a live fetus poses a high risk of adverse perinatal outcomes and preeclampsia. The volume of information regarding this rare condition must be increased in order to better determine potential interventions in cases of euploid fetuses and to provide adequate counseling in clinical practice. Therefore, reporting these cases is important to build sufficient evidence about the natural course of this condition.

Humans , Female , Pregnancy , Infant, Newborn , Hydatidiform Mole , Fetus , Pre-Eclampsia , Fetal Growth Retardation