Research progress on fetal gallbladder dysplasia / 中华围产医学杂志

Gallbladder dysplasia is not common but can be associated with chromosome abnormality and/or some severe complications such as biliary atresia and cystic fibrosis. Therefore, prenatal detection of this problem is of great significance for timely management after birth. However, abnormal gallbladder development is often overlooked in routine mid-term fetal ultrasound scanning. Here, we reviewed the research progress on fetal gallbladder dysplasia, including clinical characteristics and perinatal prognosis of gallbladder duplication, echo substances in gallbladder and gallbladder cholelithiasis, ectopic gallbladder, gallbladder enlargement, and cystic fibrosis, and summarized the types, incidence, clinical features, prenatal diagnosis and perinatal prognosis of non-visualized fetal gallbladder, in order to emphasize the prenatal screening of fetal gallbladder dysplasia.

Prenatal diagnosis and pregnancy outcome of fetuses with isolated echogenic bowel / 中华围产医学杂志

Objective:To investigate the clinical value of isolated fetal echogenic bowel (FEB) as an indicator for invasive prenatal diagnosis.Methods:This retrospective study enrolled 183 pregnant women who were diagnosed with isolated FEB and underwent invasive prenatal diagnosis in Fujian Maternity and Child Health Hospital from August 2013 to January 2021. Clinical data including the results of conventional karyotyping and chromosomal microarray analysis (CMA), cytomegalovirus (CMV) DNA loads in amniotic fluid and pregnancy outcomes were reviewed analyzed. Chi-square test was used for statistical analysis Results:Karyotyping was performed on all of the 183 fetuses and three (1.64%) aneuploidies (one case of trisomy 21, one trisomy 18 and one 47,XYY syndrome) were detected. One trisomy 21 and four pathogenic (P)/likely pathogenic (LP) copy number variation (CNV) were detected among 108 fetuses who received CMA. The detection rate of P/LP chromosomal abnormalities by CMA was higher than that by karyotyping, but there was no significant difference between them [4.63% (5/108) vs 0.93% (1/108), χ 2=1.54, P>0.05]. In addition, three cases of variants of uncertain significance (VOUS) were detected by CMA. CMV DNA loads of fetal cells in the amniotic fluid samples of the 166 cases were determined, and only one (0.6%) was positive (CMV DNA up to 7.01×10 6 copies/ml), and no abnormalities were found in karyotype analysis and CMA detection. A total of 176 cases were followed up, and among them only one case of intrauterine infection and seven cases (three aneuploidies and four P/LP CNV) of chromosomal abnormalities were terminated after genetic counseling. Three fetuses with VOUS and other 165 fetuses without chromosomal abnormalities had a good prognosis after birth. Conclusions:Isolated FEB may be the abnormal ultrasound finding in fetuses with chromosomal abnormalities or CMV infection. Prenatal genetic testing and the exclusion of intrauterine infection are important for management during pregnancy and prognosis assessment of FEB.

Experiência de mães após o diagnóstico de malformação congênita e as expectativas de cuidado / Experience of mothers after the diagnosis of congenital malformation and the expectations of care

RESUMO Objetivo compreender a experiência de mães após o diagnóstico de malformação congênita e as expectativas de cuidado da rede de saúde e social. Métodos pesquisa qualitativa com embasamento na Fenomenologia Social, com a participação de seis mães residentes em municípios de fronteira, por meio de entrevista semiestruturada. Resultados os relatos trouxeram informações sobre o diagnóstico de malformação congênita, a experiência da gravidez, o tornar-se mãe de criança com malformação e as expectativas de cuidado de saúde e social. Conclusão o grupo social estudado experienciou o diagnóstico de malformação com sofrimento, repercussões emocionais e com mudanças no cotidiano vivido. Contribuições para a prática: a comunicação por parte da equipe de saúde contribui para a compreensão e enfrentamento da malformação. Destacou-se a importância do apoio da rede familiar e social. É preciso desenvolver competências profissionais relacionadas à comunicação e a maiores investimentos para a formação e condições de trabalho que possibilitem maior tempo destinado ao atendimento deste público.

ABSTRACT Objective to understand the experience of mothers after the diagnosis of congenital malformation and the expectations of care from the health and social network. Methods qualitative research based on Social Phenomenology, with the participation of six mothers living in border towns, by means of semi-structured interviews. Results the reports brought information about the diagnosis of congenital malformation, the experience of pregnancy, becoming a mother of a child with malformation and the expectations of health and social care. Conclusion the social group studied experienced the diagnosis of malformation with suffering, emotional repercussions and changes in their daily lives. Contributions to practice: communication by the health team contributes to understanding and facing the malformation. The importance of the family and social network support was highlighted. It is necessary to develop professional skills related to communication and to make more investments in training and working conditions that allow more time for the care of this public.

Postnatal outcomes and prognosis of fetal intra-abdominal solid masses diagnosed by prenatal ultrasound / 中华围产医学杂志

Objective:To investigate the clinical outcomes and prognosis of children who were prenatally diagnosed with solid space-occupying abdominal lesions by ultrasound.Methods:This study retrospectively enrolled 30 children with solid space-occupying abdominal lesions that were indicated by prenatal ultrasound at Children's Hospital of Fudan University from March 2015 to March 2021. Prenatal ultrasound findings, postnatal treatment, clinical outcomes, and prognosis were analyzed.Results:These subjects included 18 male and 12 female infants, with the median gestational age at the first sonographic diagnosis of 36 weeks (28 to 39 weeks). The intra-abdominal solid masses were postnatally confirmed to be located in liver, retroperitoneum, and gastrointestinal tract, which were hepatic hemangioma ( n=14), hepatoblastoma ( n=2), neuroblastoma ( n=6), abdominal teratoma ( n=4), adrenal hematoma ( n=1), adrenocortical adenoma ( n=1), hyperplasia of renal capillary ( n=1), and gastrointestinal teratoma ( n=1). The accuracy of prenatal ultrasound in detecting the location of masses was 73% (22/30) and which was 13/16 in detecting masses from liver and 9/14 in that outside the liver. Among the 30 cases, 73% (22/30) were benign tumors, and 27% (8/30) were malignant tumors (hepatoblastoma in two cases and neuroblastoma in six cases). Among 15 patients with benign tumors (hepatic hemangioma and adrenal hematoma) who received close follow-up or drug therapy, tumor/lesion regression occurred in 13 cases and the other two were observed with stable hepatic hemangiomas. Fourteen patients, including six with neuroblastoma, two with hepatoblastoma, five with teratoma, one with adrenocortical adenoma, and one with hyperplasia of renal capillary, had good prognosis after primary tumor resection or combined with postoperative chemotherapy. One hepatoblastoma case died after withdrawing treatment. The overall survival rate was 97% (29/30) with a median follow-up time of 24 months (4 to 60 months). Conclusions:Prenatal ultrasound has high accuracy in identifying the anatomic region of fetal solid space-occupying abdominal lesions. With close postnatal follow-up and proper treatment, most of the affected fetuses will have a good outcome and prognosis.

Congenital malignant rhabdoid tumor in a fetal neck: a case report / 中华围产医学杂志

We report the clinical characteristics of congenital malignant rhabdoid tumor (MRT) of the neck in a fetus. Prenatal ultrasound and MRI at 33 +4 and 34 weeks gestation revealed a round solid mass on the right side of the fetus' neck. An initial differential diagnosis was between neuroblastoma and vascular malformation. Re-examination with ultrasound at 36 gestational weeks revealed an enlarged fetal neck mass, with concomitant multiple subcutaneous solid masses all over his body, right-side hydrothorax, and abnormal liver echo, which were highly suspicious of metastasis of a malignant tumor. The baby boy was delivered by cesarean section at 37 weeks of gestation with a normal Apgar score and slight shortness of breath. Physical examination showed scattered lesions in the neck, armpits, and limbs, etc. The condition of the infant deteriorated rapidly with the increasing number and volume of the masses after admission. The boy was confirmed as MRT (stage Ⅳ) by pathological biopsy on the left upper arm and died on postnatal day 10 after treatment was withdrawn.

Multidisciplinary team working for diagnosis and treatment of fetal intestinal volvulus: report of two cases / 中华围产医学杂志

We report the diagnosis and treatment of two cases of fetal intestinal volvulus. Case 1 presented to Gansu Provincial Maternity and Child-care Hospital due to reduced fetal movements at 33 +4 weeks of gestation. Case 2 was referred to our hospital from a local hospital because of fetal bowel dilatation by ultrasound at 32 +5 weeks. Both cases were found to have fetal bowel dilatation with typical "whirlpool" or "coffee bean" signs on ultrasound after admission. After multidisciplinary consultation and discussion, an emergency cesarean section was performed, during which the two neonates underwent surgical operation and resection of necrotic bowel loops after confirming the diagnosis of volvulus and intestinal necrosis. Case 2 suffered from pulmonary artery thrombosis after the bowel surgery, and underwent pulmonary artery incision and embolectomy within 24 hours. Both newborns recovered well after the operation, whose growth parameters and nervous system development was normal for follow-up.

Giant mediastinal capillary hemangioma in a fetus: a case report / 中华围产医学杂志

We describe a rare case of fetal mediastinal capillary hemangioma presenting as pleural effusion and a huge pleural occupying lesion during late pregnancy. The patient was admitted at 36 +3 weeks of gestation, with a fetal chest occupying lesion for 11 days. Routine prenatal ultrasound and MRI indicated right pleural effusion and a huge chest occupying lesion in the fetus. The woman was administered oxytocin and delivered a live baby boy at 36 +5 weeks of gestation. The baby was diagnosed as mediastinal hemangioma by postnatal CT, angiography and 3D reconstruction and was discharged after oral propranolol treatment. However, he was readmitted one month after birth due to "pneumonia and tachypnea". After multidisciplinary consultation, the baby underwent a right-side thoracic mediastinal mass resection, and a mediastinal capillary hemangioma was confirmed by pathology. The child continued taking propranolol orally and received regular follow-up and rehabilitation after the operation up to 7 months old, by which time no obvious abnormalities were found.

Genital abnormalities: Contextualization of a neglected area in prenatal diagnosis / Anomalías genitales: contextualización de un campo olvidado en el diagnóstico prenatal

RESUMEN Objetivo: hacer una reflexión sobre el bajo desarrollo que hay actualmente en el campo del diagnóstico prenatal de las anomalías genitales. Materiales y métodos: a partir de la tesis de que el desarrollo del diagnóstico antenatal de las anomalías genitales es escaso, se presenta una comparación con el estado actual de otros campos del diagnóstico prenatal, así como con su contrapartida posnatal; se analizan las distintas causas que pueden haber llevado a esta situación, y se reflexiona sobre formas de mejora de la especialidad. Conclusión: en comparación con otras áreas del diagnóstico prenatal, la detección de anomalías genitales tiene un menor nivel de desarrollo en cuanto a la disponibilidad de herramientas diagnósticas, de protocolos de manejo o investigación clínica. Algunas causas probables son la percepción de baja prevalencia, una importancia limitada o las dificultades para su exploración. Una forma de reforzar este componente de la medicina fetal sería la integración del conocimiento actual, la adquisición de herramientas adecuadas, y una traslación a la medicina clínica.

ABSTRACT Objective: To reflect on how the area of genital abnormalities has fallen behind in prenatal diagnosis. Materials and methods: Based on the thesis that prenatal diagnosis of genital abnormalities has scarcely developed, a comparison with other areas of prenatal diagnosis and with its postnatal counterpart is presented; different explanations for this situation are examined; and a reflection is made on ways to improve the specialty. Conclusion: Compared to other disciplines, prenatal diagnosis of genital abnormalities finds itself lagging behind in terms of diagnostic tools, management protocols and scientific literature. Potential causes include a perception of low prevalence and limited importance, or exploration challenges. Integration of current knowledge, together with the acquisition of the appropriate tools and translation to clinical medicine, would be a way to make this discipline stronger.

Prenatal ultrasonographic diagnosis and prognosis of fetal meconium peritonitis / 中华围产医学杂志

Objective@#To investigate the maternal and neonatal outcomes of fetal meconium peritonitis (FMP) cases with different ultrasonic manifestations.@*Methods@#The clinical data of 31 pregnant women with FMP diagnosed by prenatal ultrasound and confirmed by postnatal imaging examination in Guangzhou Women and Children's Medical Center from January 2011 to December 2018 were analyzed retrospectively. According to the last prenatal ultrasonographic findings, the 31 cases were classified into the following grades: grade 0 (three cases), grade 1 (20 cases, grade 1A: nine cases, grade 1B: three cases, grade 1C: eight cases), grade 2 (seven cases) and grade 3 (one case). All neonates were also divided into two groups: the operation group (19 cases) and conservative treatment group (12 cases) based on whether or not underwent surgery. Statistical methods were independent sample t-test and Chi-square test.@*Results@#(1) The gestational ages at the first diagnosis of FMP and birth of the operation group were both lower than those of the conservative treatment group [(29.9±4.5) vs (38.2±1.0) weeks, t=-6.202; (36.2±2.7) vs (38.2± 1.0) weeks, t=-2.426; both P<0.05]. (2) The operation rates in cases of grade 0, 1, 2 and 3 groups were 0/3, 55%(11/20), 7/7 and 1/1, respectively (χ2=10.136, P=0.017). However, the operation rates in grade 1A, 1B and 1C groups were 7/9, 1/3 and 3/8, respectively (χ2=3.446, P=0.179).@*Conclusions@#The rate of operation of FMP newborn was related to the gestational age of the first prenatal ultrasound diagnosis of FMP and the ultrasonic grade. The different grades of prenatal ultrasound in FMP cases can provide important information for guiding perinatal treatment.

Prenatal ultrasonographic diagnosis and prognosis of fetal meconium peritonitis / 中华围产医学杂志

Objective To investigate the maternal and neonatal outcomes of fetal meconium peritonitis (FMP) cases with different ultrasonic manifestations.Methods The clinical data of 31 pregnant women with FMP diagnosed by prenatal ultrasound and confirmed by postnatal imaging examination in Guangzhou Women and Children's Medical Center from January 2011 to December 2018 were analyzed retrospectively.According to the last prenatal ultrasonographic findings,the 31 cases were classified into the following grades:grade 0 (three cases),grade 1 (20 cases,grade 1A:nine cases,grade 1B:three cases,grade 1C:eight cases),grade 2 (seven cases) and grade 3 (one case).All neonates were also divided into two groups:the operation group (19 cases) and conservative treatment group (12 cases) based on whether or not underwent surgery.Statistical methods were independent sample t-test and Chi-square test.Results (1) The gestational ages at the first diagnosis of FMP and birth of the operation group were both lower than those of the conservative treatment group [(29.9±4.5) vs (38.2± 1.0) weeks,t=-6.202;(36.2±2.7) vs (38.2±1.0) weeks,t=2.426;both P＜0.05].(2) The operation rates in cases of grade 0,1,2 and 3 groups were 0/3,55％(11/20),7/7 and 1/1,respectively (x2=10.136,P=0.017).However,the operation rates in grade 1A,1B and 1C groups were 7/9,1/3 and 3/8,respectively (x2=3.446,P=0.179).Conclusions The rate of operation of FMP newborn was related to the gestational age of the first prenatal ultrasound diagnosis of FMP and the ultrasonic grade.The different grades of prenatal ultrasound in FMP cases can provide important information for guiding perinatal treatment.

Fetoscopia y fotocoagulación láser en el manejo del síndrome de transfusión feto fetal: serie de los primeros casos tratados en el Perú / Fetoscopy and laser photocoagulation in the treatment of twin-to-twin transfusion syndrome: series of cases treated in Peru

Twin-to-twin transfusion syndrome is a severe complication of twin monochorial pregnancies manifested with one hypovolemic fetus (donor) and another hypervolemic fetus (receiver). Perinatal mortality is about 90 to 100% if untreated. The accepted treatment is fetoscopy and selective laser photocoagulation of the placental shunts that connect both twins. Currently, this specialized procedure is only performed in our institution. We present the first cases of monochorionic twin pregnancy complicated with twin-to-twin transfusion syndrome that underwent laser photocoagulation and fetoscopy.

El síndrome de transfusión feto fetal es una complicación severa de los embarazos gemelares monocoriónicos, que fisiopatológicamente se manifiesta con un feto hipovolémico (donante) y un feto hipervolémico (receptor). Conlleva una mortalidad perinatal de 90 a 100% si no es tratado. El tratamiento aceptado es la fetoscopia y fotocoagulación láser selectiva de las anastomosis placentarias que conectan ambos gemelos, procedimiento especializado que se viene realizando solo en nuestra institución. Se presenta los primeros casos de gestación gemelar monocoriónica complicado con síndrome de transfusión feto fetal sometidos a fetoscopia y fotocoagulación laser.

Promotion of basic research in fetal medicine supported by National Natural Science Foundation of China / 中华围产医学杂志

We systematically analyzed the progress on basic research in fetal medicine in China funded by National Natural Science Foundation of China since 1987.Aiming to promote basic research in fetal medicine,a series of effective measures has been implemented by National Natural Science Foundation of China in recent years,such as defining specific research goals and keywords under the application code of fetal medicine,launching emergent management projects and organizing strategic discussion with experts.Despite the wide gap between domestic and foreign researches,we have some advantages and have already made great achievements.Here are some suggestions on future basic research in fetal medicine from the perspective of funding application in China.

Ultrasound screening and clinical manifestations of congenital cytomegalovirus infection in fetuses / 中华围产医学杂志

Objective To investigate the value of ultrasound screening for congenital cytomegalovirus (CMV) infection in fetuses and to summarize the clinical manifestations.Methods From January 2012 to December 2017,we retrospectively analyzed the clinical data of 905 gravidas who received invasive prenatal diagnosis in Fujian Provincial Maternity and Children's Hospital for abnormal prenatal ultrasound findings including ventriculomegaly,intracranial calcification,microcephaly,echogenic bowel and fetal growth restriction (FGR).CMV DNA loads in amniotic fluid and neonatal urine were detected by real-time polymerase chain reaction.CMV-specific IgM and IgG in umbilical cord and neonatal peripheral blood were detected by commercial enzyme 1 inked immunosorbent assay kits.Eighteen fetuses with normal karyotype were diagnosed as congenital CMV infection.Relationships of ultrasound features and CMV DNA loads in amniotic fluid to pregnancy outcomes were analyzed with x2 test or Fisher's exact test.Results (1) Congenital CMV infection was detected in 18 fetuses in this study with an detection rate of 1.99％ (18/905).Three pregnancies were terminated immediately after the diagnosis was confirmed,two terminated when the ventriculomegaly progressed,five terminated for hydrocephaly and eight continued to delivery.(2) Congenital CMV infection rate was significantly higher in those with two or more ultrasound abnormalities than that in those with only one abnormal indicator [3.92％(8/204) vs 1.28％(9/701),x2=4.619,P=0.032].Fetuses with craniocerebral abnormalities were more likely to have congenital CMV infection than those without [3.11％(13/418) vs 0.82％(4/487),x2=6.392,P=0.012].(3) Among the 18 fetuses with congenital CMV infection,those with serious ultrasound abnormalities had a significantly higher rate of adverse outcomes than those without (11/11 vs 3/7,Fisher's exact test,bilateral P=0.043).No significant difference in the rate of adverse outcomes was found between fetuses with low and high CMV DNA loads in amniotic fluid (3/4 vs 12/14,Fisher's exact test,bilateral P=1.000).Conclusions Ultrasound abnormalities including ventriculomegaly,intracranial calcification,microcephaly,echogenic bowel and FGR,especially those with multiple abnormalities and brain abnormalities,increased risk of congenital CMV infection.Congenital CMV fetuses with serious ultrasound abnormalities has adverse outcomes.

Pathological significance of retrograde flow in fetal aortic arch / 中华围产医学杂志

Objective To summarize the pathological significance of retrograde flow in fetal aortic arch by analyzing the associated diseases and hemodynamic characteristics. Methods A retrospective study on retrograde flow in fetal aortic arch was conducted on fetuses with intra- or extra-cardiac abnormality. All data were collected from the database of Fetal Heart Disease Maternal Fetal Medicine Research Important Laboratories in Beijing from January 2013 to October 2016. Fetuses with normal cardiac structure and without extra-cardiac abnormality in late pregnancy were excluded from this study. Ultrasound images with description of retrograde flow in fetal aortic arch in report or presenting retrograde flow signal during scanning were recruited. All selected cases were reviewed and the diagnosis was reconfirmed. The signal of retrograde flow in the aortic arch was that the direction of blood flow in the aortic arch was inconsistent with that of the ductus arteriosus. Spectral Doppler was used to define systolic or diastolic retrograde flow and all cases were divided into four groups accordingly: middle-late systole, systole, diastole, systole+diastole for analysis. The etiology of retrograde flow in the aortic arch was analyzed based on cardiac structure abnormality and extra-cardiac abnormality. Clinical outcomes were followed up. Descriptive statistics was used to analyze all the data. Results (1) Among 21607 cases reviewed, 62 (0.29％) were recruited with the mean gestational age of (29.5±4.6) weeks and and average age of (26.1±2.9) years, respectively. (2) Fifty-eight (93.5％) of the 62 cases were diagnosed with cardiac structure and/or cardiac function abnormality, including 44 of left ventricular outflow abnormality and 14 of significantly reduced left ventricular volume with normal left ventricular function. The other four cases (6.5％) with extra-cardiac abnormality were all complicated with abnormal peripheral circulation resistance in fetal systemic circulation, which included intrauterine growth restriction resulting from placental insufficiency (three cases) and cerebral arteriovenous fistula (one case). (3) Retrograde flow filling the whole aortic arch was found in 32 cases (51.6％) with severe aortic stenosis or atresia, one (1.6％) with severe aortic regurgitation caused by absence of aortic valve and one (1.6％) with cerebral arteriovenous fistula. Retrograde flow with other causes mainly presented in the middle part and the distal isthmus of the aortic arch. (4) Retrograde flow presented in the middle and late systole was observed in 24 cases (38.7％) of significantly reduced left ventricular volume with normal left ventricular function, while those presented in the diastole were found in cases with severe aortic regurgitation, large coronary fistula, or abnormal peripheral circulation resistance (six cases, 9.7％). Thirty-two fetuses (51.6％), diagnosed with left ventricular outflow tract obstruction, showed retrograde flow in both systole and diastole. (5) Among the 62 pregnancies, 46 (74.2％) were terminated, one (1.6％) ended due to fetal intrauterine death, and the other 15 (24.2％) continued to delivery (13 of term pregnancy, and two of preterm pregnancy). Autopsies were performed on 26 out of the 46 terminated fetuses, and the results were consistent with the fetal echocardiography. Of the 15 newborns, one died due to extra-cardiac abnormality, and the other 14 (four underwent operation) remained well in development and heart function during follow-up until March, 2017. Conclusions The retrograde flow signal in the aortic arch is commonly seen in fetal cardiac structural and/or functional abnormality. Hemodynamic characteristics of the retrograde flow may vary depending on the etiology. Therefore, clinicians should pay attention to analyze the hemodynamics in combination with ultrasound findings to identify the etiology and to improve the accuracy of fetal echocardiography.

The diagnosis value and prognosis analysis of systematic ultrasound examination in fetal lung disease / 中国医师杂志

Objective To explore the clinical significance and diagnosis value of ultrasonography for fetal lung disease.Methods A total of 61 cases of fetal lung disease was diagnosed and the data were retrospectively analyzed.Results In the 61 fetus of lung disease,(1) there were 31 fetuses with congenital cystic adenomatoid adenomatoid malforamation (CCAM),the ultrasound found that there were mass in fetus lung,they were mixed echo or large cyst or more little cyst or a hyperechoic in the mass.Among them,there were 2 cases of type Ⅰ,16 cases of type Ⅱ,and 13 cases of type Ⅲ;21 cases were labored,who were CCAM-confirmed by pathology,3 fetus masses were disappeared,7 cases were CCAM-confirmed with magnetic resonance (MR) after birth.(2) There were 19 fetuses with pulmonary sequestration (PS),the sonography was slightly hyperechoic mass in the lung,including 7 cases of induced labor and confirmed by pathology as PS,and 4 cases of mass disappeared,8 cases confirmed by MR or computed tomography (CT) after birth.(3) There were 6 cases of congenital diaphragmatic hernia,the abdomnial viscera was seen in the chest,5 cases were induced labor,and 1 survived after operation.(4) There were 5 cases of pleural effusion (PE),4 cases were induced labor and 1 case of PE disappeared.Conclusions Systemic prenatal ultrasonographic examination is an reliable method which can be short-term follow-up to observe the progress and the outcome,and to provide valuable information for clinical prognosis.

Non-invasive prenatal test in 2 949 intermediate risk women after traditional Down syndrome screening / 天津医药

Objective To explore the value of non-invasive prenatal test (NIPT) in pregnant women with intermediate risk after traditional Down syndrome screening. Methods From March 1 2015 to March 31 2016, a total of 2 949 pregnant women with intermediate risk after traditional Down syndrome screening who received NIPT as the second-line screening method at Shenzhen Maternity and Child Healthcare Hospital after informed consent were recruited for this study. Retrospective data analysis including the results of traditional Down syndrome screening, ultrasound, NIPT and invasive amniocentesis to fetal karyotype analysis were conducted, and pregnant outcomes were followed up. Results NIPT results were all obtained in 2 949 pregnant women with intermediate risk after traditional Down syndrome screening. Of 25 NIPT-positive cases, 24 cases received invasive amniocentesis to fetal karyotype analysis. Thirteen cases were confirmed with fetal chromosomal abnormalities including 5 cases of trisomy 21, 2 cases of trisomy 13, 4 cases of sex chromosomal abnormalities and 2 cases of other chromosomal abnormalities. In addition, 1 NIPT-positive case refused prenatal diagnosis was confirmed normal result after birth. The postnatal follow-up in NIPT-negative women did not find any newborn with chromosomal abnormality. The incidence of fetal chromosomal abnormalities in women with intermediate risk was 0.44% (13/2 949). Conclusion NIPT can be used as second-line screening method in pregnant women with intermediate risk after Down syndrome screening, which could lead to the prenatal detection of a higher proportion of fetal chromosomal abnormalities and a lower invasive-testing rate.

Prenatal diagnosis and prognosis of fetal hyperechogenic kidney: a study of 65 cases / 中华围产医学杂志

Objective To investigate prenatal diagnosis and prognosis of fetus with hyperechogenic kidney.Methods Clinical data of 65 cases prenatally diagnosed with fetal hyperechogenic kidney in Peking University First Hospital between July,2009 and May,2015 were retrospectively analyzed.Results of fetal ultrasound screening and pregnancy outcomes were analyzed and Growth and development status of those babies were followed up until December,2015.Independent-sample-t,Chi-square or Fisher's exact test was applied for statistical analysis.Results Among the 65 cases,including 48(73.8％) bilateral and 17 (26.2％) unilateral,34 cases (52.3％) were diagnosed as non-isolated and 31 cases (47.7％) as isolated fetal hyperechogenic kidney.The primary associated malformations with non-isolated fetal hyperechogenic kidney included cardiac abnormality (14 cases,41.2％),urinary system abnormality (12 cases,35.2％),skeletal system abnormality (nine cases,26.5％),central nervous system abnormality (eight cases,23.5％) and Meckel-Gruber sydrome (one case,2.9％).Amniotic volume,the size and numbers of affected kidney between non-isolated and isolated groups showed no significant differences (all P＞0.05).Twenty out of the 65 cases (30.8％) received fetal karyotyping and one received non-invasive prenatal testing,and no abnormality was detected.Three cases received cord blood array comparative genomic hybridization with negative results.Pathogenic genes were found in two cases who received targeted exome capture with high throughput sequencing,including a TTC21B mutation in cord blood in one case and a HNF1β deletion mutation in peripheral blood after birth in the other.There were 23 (35.4％) terminations of pregnancy and 42 (64.6％) live births among which three died after birth.The rate of live birth was significantly higher in the isolated group than in the non-isolated group[87.1％(27/31) vs 44.1％(15/34),x2=13.101,P＜0.01].Of the fifteen live births in the non-isolated group,there were fourteen survived symptomfree except that one lost to follow-up.Of the 27 live births in the isolated group,follow up study revealed 23 symptom-free survivors,one lost,two neonatal deaths (one died of volvulus neonatorum,and the other due to unknown causes) and one death of renal and liver function failures at the age of two-and-a-half.ConclusionsFetal hyperechogenic kidney is an important prenatal ultrasound marker for congenital renal anomalies,and the prognosis of non-isolated fetal hyperechogenic kidney is poor.The current rate of abnormal karyotype in fetus with hyperechogenic kidney is very low.However,the rate of prenatal genes screening should be encouraged.

Revisión narrativa. Complicaciones en la madre, feto y neonato, derivadas del consumo de cocaína durante la gestación / Narrative review. Complications in the mother, fetus, and neonate due to cocaine use during pregnancy / Revisão narrativa. Complicações na mãe, feto e neonato, derivadas do consumo de cocaína durante a gestação

Latinoamérica reporta en las gestantes un consumo de alcohol del 44%, cigarrillo 51.8%, anfetaminas 8.3%, cocaína 2.5% y marihuana 2%. Las gestantes consumidoras representan un problema para las instituciones prestadoras de salud que exige intervenciones intersectoriales e interdisciplinarias por las consecuencias físicas, psicológicas, familiares y sociales que conlleva para la madre, el neonato y el infante. En esta revisión se describen las complicaciones físicas y conductuales en la madre, el feto y el neonato, que surgen por el consumo de cocaína y sus derivados durante la gestación. Se realizó una revisión narrativa a partir de la búsqueda de información científica indexada en las bases de datos Pubmed, Lilacs, Ovid, Science Direct entre el 2000 y el 2015, se utilizaron palabras clave con el fin de realizar una búsqueda estandarizada de información y se incluyeron artículos como productos de investigaciones, revisiones sistemáticas, metaanálisis. Las gestantes consumidoras de cocaína entrañan un factor de riesgo para la salud pública, con consecuencias físicas, psicológicas, familiares, sociales para la madre, el neonato y el infante, tales como hipertensión gestacional, desprendimiento de placenta, retardo del crecimiento intrauterino y síndrome de abstinencia neonatal. Es necesario que los profesionales de salud, las instituciones hospitalarias y Secretarías locales de salud elaboren, adapten y adopten algún protocolo de notificación, manejo y seguimiento a las madres consumidoras y de sus hijos para promover hábitos saludables, prevención de complicaciones obstétricas, neonatales y seguimiento de repercusiones en el desarrollo y crecimiento de los hijos.

Latin America reported the following data regarding substance abuse in pregnant women: 44% alcohol, 51.8% tobacco, 8.3% amphetamines, 2.5% cocaine and 2% cannabis. Pregnant women using these substances are a risk factor for health institutions due to the physical, psychological, social, and family consequences for the mother and the newborn infant. Thus, intersectoral and interdisciplinary interventions are necessary to treat this problem. This review describes the physical and behavioral complications in the mother, fetus, and neonate as a result of the use of cocaine and its derivatives during pregnancy. A narrative review was performed by means of a search of journals indexed in PubMed, Lilacs, Ovid, Science Direct from 2000 to 2015. Keywords were used in order to perform a standardized literature search, and data from research articles, systematic reviews, meta-analyses were included. Pregnant consumers of cocaine involve a risk factor for public health due to the physical, psychological, family, and social consequences for the mother, the newborn, and infant, such as high blood pressure, abruption, intrauterine growth retardation, and neonatal abstinence syndrome. It is necessary for local health departments to develop, adopt, and adapt reporting, management, and monitoring protocols for consuming mothers and their children in order to promote healthy habits, prevention of obstetrics and neonatal complications and to monitor the impact on growth and development in children.

Latino-américa reporta nas gestantes um consumo de álcool de 44%, cigarro 51.8%, anfetaminas 8.3%, cocaína 2.5% e maconha 2%. As gestantes consumidoras representam um problema para as instituições prestadoras de saúde que exige intervenções inter-setoriais e interdisciplinares pelas consequências físicas, psicológicas, familiares e sociais que implica para a mãe, o neonato e o infante. Nesta revisão se descrevem as complicações físicas e de condutas na mãe, o feto e o neonato, que surgem pelo consumo de cocaína e seus derivados durante a gestação. Se realizou uma revisão narrativa a partir da busca de informação científica indexada nas bases de dados Pubmed, Lilacs, Ovid, Science Direct entre 2000 e 2015, se utilizaram palavras chave com o fim de realizar uma busca padrão de informação e se incluíram artigos como produtos de investigações, revisões sistemáticas, meta-análise. As gestantes consumidoras de cocaína entranham um fator de risco para a saúde pública, com consequências físicas, psicológicas, familiares, sociais para a mãe, o neonato e o infante, tais como hipertensão gestacional, desprendimento de placenta, retardo do crescimento intrauterino e síndrome de abstinência neonatal. É necessário que os profissionais de saúde, as instituições hospitalares e Secretarias locais de saúde elaborem, adaptem e adotem algum protocolo de notificação, manejo e seguimento às mães consumidoras e de seus filhos para promover hábitos saudáveis, prevenção de complicações obstétricas, neonatais e seguimento de repercussões no desenvolvimento e crescimento dos filhos.

Hidrops fetal por flutter auricular: a propósito de un caso / Hidrops fetalis due to atrial flutter: Case study

Resumen Las arritmias en el período fetal que producen falla cardíaca conllevan aumento de la morbilidad y mortalidad fetal. La intervención sobre el feto dependerá de la edad gestacional al momento del diagnóstico, del tipo de arritmia, su repercusión y factores de riesgo asociados. Se presenta el caso clínico de un recién nacido con hidrops por flutter auricular. Se analiza la oportunidad y disponibilidad de su tratamiento.

Summary Arrhythmias in the fetal period that cause heart failure involve increased fetal morbidity and mortality. Intervention on the fetus depends on gestational age at the time of diagnosis, type of arrhythmia, its impact, and associated risk factors. The clinical case of a new born with hydrops fetalis due to atrial flutter is presented in the study, and opportunity and availability of treatment are analysed.

Hidronefrose na criança / Hydronephrosis in children

A hidronefrose é uma afecção comum na criança e consiste na dilatação do sistema coletor renal, podendo ser congênita, e por isso denominada hidronefrose fetal, ou pode ser adquirida, o que é menos frequente. A hidronefrose fetal pode ser diagnosticada ainda na vida intrauterina, por meio da ultrassonografia obstétrica. Dilatações leves a moderadas podem resolver-se espontaneamente antes ou após o nascimento. Porém,dilatações maiores podem ser causa de infecção urinária, causar dano ao parênquima renal e provavelmente irão requerer tratamento cirúrgico. As principais causas de hidronefrose fetal que persistem após o nascimento são: estenose de junção ureteropélvica, refluxo vesicoureteral, estenose da junção ureterovesical, duplicações pieloureterais, associado ou não a ureterocele, e válvula de uretra posterior. Em relação à hidronefroseadquirida, a etiologia mais comum é a angulação do ureter proximal por vaso polar anômalo, porém também pode ser devida à ureterolitíase, que é incomum. Nesses casos normalmente diagnostica-se a hidronefrose devido à propedêutica de dor abdominal crônica recorrente em crianças maiores.Na conduta inicial na hidronefrose fetal, logo após o nascimento, deve-se realizar ultrassonografia das vias urinárias, para confirmar eclassificar o grau de hidronefrose. De acordo com os achados ultrassonográficos é que se decidirá se será necessário estender a propedêutica ou manter conduta expectante. Na condução subsequente dessas crianças é importante o acompanhamento do nefrologista-pediatra e do cirurgião-pediatra, convindo que sejam tratadas em centros especializados, com todos os recursos necessários para o diagnóstico e tratamento adequado.

Hydronephrosis is a common illness in children and consists in the dilatation of the renal collector system. It may be congenital, and in this case is called fetal hydronephrosis, or it can be acquired, which is less frequent. The fetal hydronephrosis may be diagnosed during the intrauterine life through obstetric ultrasound. Mild to moderate dilatations may resolve spontaneously before or after birth. However, larger dilatations can be causes of urinary tract infection, damage to the renal parenchyma, and may require surgical treatment. The main causes of persistent fetal hydronephrosis after birth are ureteropelvic junction stenosis, vesicoureteral reflux, ureterovesical junction stenosis, ureteric duplication associated or not with ureterocele, and posterior urethra valve. In relation to the acquired hydronephrosis, the most common etiology is the angulation of the proximal ureter resulting from an anomalous polar vessel; however, it can also be due to ureterolithiasis, which is uncommon. In these cases, the hydronephrosis is usually diagnosed as the result of propaedeuticsof chronic recurrent abdominal pain in older children. The initial conduct in cases of fetal hydronephrosis, shortly after birth, is the use of urinary tract ultrasound to confirm and classify the degree of hydronephrosis. The ultrasound findings will assist to decide if it is necessary to extend the propaedeutics or maintain a waiting conduct. The follow-up by a nephrologist and pediatric-surgeon in the subsequent treatment of these children is important when treated in specialized centers with all theneeded resources for proper diagnosis and treatment.