Manejo de embarazos únicos con diagnóstico antenatal de vasa previa / Management of singleton pregnancies with prenatal diagnosis of vasa previa

Introducción: vasa previa (VP) corresponde al paso de los vasos umbilicales por las membranas amnióticas, sin protección de gelatina de Wharton o placenta, antes de la presentación fetal, sobre el orificio cervical interno. Pese a su baja incidencia, el diagnóstico prenatal es relevante por las graves consecuencias que puede tener esta patología en caso de no ser diagnosticada. El objetivo de esta revisión es presentar la evidencia disponible para el manejo de embarazadas con diagnóstico antenatal de VP. Materiales y métodos: analizamos todos los estudios publicados (prospectivos, retrospectivos y reporte de casos) entre los años 1999 y 2023, con diagnóstico VP en embarazo único, reportando la edad gestacional de interrupción y el resultado neonatal. Resultados: incluimos 19 investigaciones (18 en la búsqueda primera y una adicional por relevancia). Las pacientes con manejo intrahospitalario desde las 34 semanas tuvieron mayor latencia al parto, mejores resultados neonatales y menor tasa de cesárea de urgencia que las pacientes con manejo ambulatorio. La edad gestacional de interrupción es variable entre los estudios, sin embargo, no se evidenció beneficio de interrupción a las 34 semanas comparado con manejo expectante hasta las 37 semanas de edad gestacional. Conclusión: existiría beneficio de hospitalización entre las 32-34 semanas en mujeres con diagnóstico de VP, siendo razonable la interrupción cercana a las 37 semanas por cesárea electiva.

Introduction: vasa previa (VP) corresponds to the passage of the umbilical vessels through the amniotic membranes, without the protection of Wharton's gelatin or placenta, in front of the fetal presentation, over the internal cervical os. Despite its low incidence, prenatal diagnosis is relevant due to the severe consequences of this pathology if the diagnosis is missed. This review presents the available evidence for pregnant women's management with an antenatal diagnosis of VP. Materials and methods: we analyzed all the studies published (prospective, retrospective, and case reports) between 1999 and 2023, with a diagnosis of VP in a single pregnancy, reporting gestational age at delivery and neonatal outcome. Results: We included 19 investigations (18 in the first search and another for relevance). Patients with in-hospital management from 34 weeks had a more extended latency period until delivery, better neonatal outcomes, and a lower rate of emergency cesarean section than patients with outpatient management. The gestational age at birth is variable between the studies; however, no benefit of delivery at 34 weeks was evidenced compared with expectant management until 37 weeks of gestational age. Conclusion: there would be a benefit of hospitalization between 32-34 weeks in women diagnosed with VP, being reasonable to schedule the delivery close to 37 weeks by elective cesarean section.

Consensus Statement of the Neurodevelopmental Pediatrics Chapter of Indian Academy of Pediatrics (IAP) on the Management of Children With Down Syndrome

Justification: The diagnosis of Down syndrome (DS) is easily made clinically but the management is multi-disciplinary and life-long. There is no standard protocol available for its management in India. Process: A committee was formed under the Indian Academy of Pediatrics (IAP) chapter of Neuro developmental pediatrics consisting of 20 experts working in the related field. The various aspects of the condition were discussed and allotted to the concerned experts related for preparing the guidelines. The material received was collated to form a set of guidelines, which were reviewed by the committee, and a consensus statement made. The guidelines were then approved by the chapter, and by the IAP. Objectives: To define the condition and to look into the various aspects of antenatal and postnatal diagnosis. To explain briefly about the involvement of the various systems that are involved and formulate recommendations for management. To recommend early and sustained interventional therapies to enable children with DS lead an independent life. Recommendations: The stress on bio-psycho-social strategy for the management of children with DS is reiterated, and the need for a medical, social and rights model is recommended after each section. The age-wise recommendations are also highlighted in addition to the recommendations under each system.

A study on the noninvasive prenatal diagnosis of fetal blood type by maternal blood / 预防医学

Objective ToexplorethevalueofprenataldiagnosisoffetalABObloodgroupsinthepreventionofABO-HDN,andtoprovideevidenceforpreventionofABO-HDN.Methods Atotalof3777sampleswerecollectedfromthe pregnant women whose ABO blood group is O,and we detected the ABO blood group by serological method to detect the titerofIgGanti-Aandanti-Binthematernalblood.Results Amongthe3777samplescollectedfromthepregnant women whose ABO blood group is O ,the titer of IgG anti-A to anti-B was 1 to1 024 in 27 samples(0.7%),1∶51 2 in 97 samples(2.6%),1∶256 in 1 63 samples(4.3%),1∶1 28 in 285 samples(7.5%)and 1:64 in 603 samples(1 6%). We followed the pregnancy and newborn outcome of 769 case whose antibody titer of 1∶64 or more ,and compared the fetal ABO blood group with results of the titer of IgG anti -A and/or anti -B.A total of 641 patients (83.3%) was corresponding resistance against A or B,and 1 28 patients (1 6.6%)was not corresponding resistance against A or B.The higher the antibody titer,the higher incidence of neonatal ABO hemolytic disease occurred.We extracted the fetal free DNA of peripheral blood plasma in 30 pregnant women, and the genotypes of fetal ABO blood group were detected by the polymerase chain reaction-sequence specific primer (PCR-SSP),and all the experiment presented success.Conclusion ThetiterofIgGanti-Atoanti-Bcouldbeusedtopreventtheoccurrenceofhemolyticdiseaseofnewborn. Considering the interference factors,the fetal free DNA in the maternal circulation could be used to prenatally detect fetal ABO blood groups.

Ex-utero Intrapartum Treatment (EXIT) Procedure for Giant Fetal Epignathus.

Background: Large fetal oropharyngeal tumors are rare, and have the potential to cause airway obstruction during birth. Case characteristics: A 35-year-old woman with antenatally diagnosed large heterogenous mass in fetal neck displacing trachea and filling up the orophanygeal space. Intervention: The infant was delivered at 31 weeks of gestation by ex-utero intrapartum therapy procedure to secure the airway. Outcome: Tumor was resected successfully on day 8 of life. Histopathology revealed mixed teratoma. Message: Ex-utero intrapartum therapy for fetuses with severe upper airway compromise may prove life-saving.

Perinatal diagnosis and treatment of congenital bronchogenic cysts in infants / 中华实用儿科临床杂志

Objective To discuss the diagnosis and early intervention treatment of fetal congenital broncho-genic cysts based on the cases reviewed. Methods The clinical features of 7 infants presenting bronchogenic cysts diagnosed antenatally from January 2013 to May 2014 in Guangdong Women and Children's Hospital and Health In-stitute were reviewed retrospectively. Pathology,the prenatal diagnosis and treatment of bronchogenic cysts experience were summarized combined with CT after birth and surgery. Results Based on the prenatal diagnosis of fetal and postnatal CT and surgical pathology,a total of 7 cases with congenital bronchial cysts were diagnosed. Of which 4 ca-ses were suggestive of congenital cystsic adenomatoid malformation by prenatal diagnosis,and the other 3 cases had fetal bronchial cysts by prenatal diagnosis,antenatal diagnosis was accurate in 42. 9%(3 / 7 cases). CT examinations were taken in 7 cases after birth,and the cyst excision was performed on them with surgery thoracic approach;the average age at surgery was(5. 3 ± 1. 7)months. Four cases had simple bronchial cystss,2 cases with congenital cystsic adenomatoid malformation,1 case with congenital pulmonary sequestration. The accuracy of CT diagnosis was 85. 7%(6 / 7 cases). All surgical treatment was effective. Conclusions Fetal bronchial cysts is always associated with the other presence of lung congenital malformations. Prenatal diagnosis of congenital bronchial cysts is difficult. Prenatal diagnosis is difficult to exclude congenital cystsic adenomatoid malformation. To avoid symptoms like oppres-sion,infection,prenatal diagnosis combined with CT examination after birth and early treatment are necessary and reliable clinically.

A Case of a Preterm Infant with Prenatally Diagnosed Intrauterine Midgut Volvulus / 대한주산의학회잡지

Intrauterine midgut volvulus is a rare and potentially life-threatening congenital disease that can lead to intestinal ischemia, sepsis and peritonitis caused by bowel perforation and meconium obstruction. Early detection and immediate treatment is crucial to improve the outcome. Herein, we report a preterm infant of 30 weeks of gestation with intrauterine midgut volvulus associated with meconium peritonitis who survived after cesarean delivery and immediate postnatal surgical intervention. The outcome of in-utero intestinal volvulus depends on optimal delivery timing and adequate postnatal treatment. Therefore, prompt multidisciplinary consultation and planning with obstetricians, neonatologists and pediatric surgeons is necessary to reduce the morbidity and mortality associated with fetal midgut volvulus, especially in the preterm period.

Molecular characterization in a case of isolated growth hormone deficiency and further prenatal diagnosis of an unborn sibling.

Familial isolated growth hormone deficiency (GHD) type 1 is characterized by an autosomal recessive pattern of inheritance with varying degrees of phenotypic severity. We report a proband, with isolated GHD (IGHD) with very early growth arrest and undetectable levels of GH. Homozygous complete deletion of the GH1 gene was identified by real‑time/quantitative polymerase chain reaction (RT/q‑PCR) and confirmed by an independent molecular genetic method; the multiplex ligation‑dependent probe amplification (MLPA) technique. Prenatal diagnosis was offered for the subsequent pregnancy in the mother of our proband. Identical heterozygous deletion of the GH1 gene was detected in both parents. The fetus had a similar homozygous deletion of the GH1 gene. We thus report a unique case with a confirmed mutation in GH1 gene in the proband followed by prenatal detection of the same mutation in the amniotic fluid which to our knowledge hitherto has not been documented from India.

Antenatal diagnostic problem of congenital rubella.

We present a preterm neonate who developed congenital rubella syndrome in a mother who had rubella at 5 months of gestation. An amniocentesis was done in the mother at that time but amniotic fluid rubella PCR was negative. Thus, inspite of prenatal screening, one cannot definitely conclude absence of perinatal transmission of rubella.

Pregnancy outcomes of antenatally diagnosed congenital cystic adenomatoid malformation of lung / 대한산부인과학회지

OBJECTIVE: To determine the accuracy of antenatal diagnosis, pregnancy outcome and the predictors for adverse outcome in antenatally diagnosed congenital cystic adenomatoid malformation (CCAM). METHODS: A retrospective review was performed on a total of 32 patients with antenatally diagnosed CCAM between January, 1999 and June, 2008. RESULTS: Of 32 cases with antenatally diagnosed CCAM, 8 patients were lost to follow-up. In remaining 24 patients, postnatal histologic examination and/or radiologic study showed definitive diagnostic features of CCAM (n=20), pulmonary sequestration (n=3) and congenital lobar emphysema (n=1). The accuracy of antenatal diagnosis was 83.3% (20/24). The rate of presence of hydrops and/or ascites was 10% (2/20) in those with CCAM confirmed postnatally. Of the 2 patients with ascites and/or hydrops, thoraco-amniotic (TA) shunt was performed in one case with hydrops and termination was done in the other case. All of the 15 cases with ongoing pregnancy were delivered at term, except one with TA-shunt who was born at 33(+3) weeks of gestation (mean gestational age at birth+/-standard deviation; 39.6+/-2.2 weeks, mean birth weight; 3,200+/-500 gram). All 15 neonates were discharged alive without any complication. Antenatal sonographic microcystic lesion was associated with postnatal histologic type III lesion [5 type III lesions in 7 microcystitc cases (71.4%) vs. no type III lesion in 13 macrocystic cases (0%), P<0.01]. CONCLUSION: The incidence of ascites and/or hydrops was 10% (2/20) in fetuses with CCAM. Antenatally diagnosed CCAM has an excellent prognosis in the absence of signs of ascites and/or hydrops.

A case of fetal intracranial hemorrhage diagnosed by antenatal ultrasonographic examination / 대한주산의학회잡지

Fetal intracranial hemorrhage is quite rare. Antenatal fetal intracranial hemorrhage may occur spontaneously, or in association with various maternal or fetal conditions. Currently, antenatal fetal intracranial hemorrhage may be diagnosed by imaging techniques including ultrasonography and less frequently, magnetic resonance imaging (MRI). We report a case of spontaneous fetal intracranial hemorrhage that was diagnosed antenatally in the third trimester with a brief review of literatures.

A Case of Fetal Bilateral Renal Agenesis / 대한산부인과학회잡지

Fetal bilateral renal agenesis is a lethal congenital anomaly characterized by bilateral pulmonary hypoplasia, deformities and death due to severe oligohydramnios. This syndrome is associated with malformations of genitourinary tract, cardiovascular system, vertebral bodies or imperforated anus in more than half of the affected individuals. An early and reliable prenatal diagnosis is extremely important because it may offer options for pregnancy termination as early as possible. The criteria for the ultrasonographic diagnosis of bilateral renal agenesis are severe oligohydramnios, nonvisualization of the bladder, empty renal fossae. But poor sonographic resolution of severe oligohydramnios makes it difficult to diagnose the disease. We present a case of bilateral renal agenesis diagnosed at the 32nd weeks gestation by using color doppler and "lying down" adrenal sign.

Prenatal Diagnosis of Congenital Rubella Using Percutaneous Umbilical Blood Sampling in Pregnant Women with Rubella Infection / 대한산부인과학회잡지

OBJECTIVE: To evaluate the usefulness of percutaneous umbilical blood sampling (PUBS) and prevalence of fetal infection in the pregnant women with suspicious fetal rubella infection. METHODS: Between June 1996 and May 2002 in Chonnam National University Hospital, the rubella specific IgG, IgM antibody and RT-PCR were checked in fetal blood obtained from 31 pregnant women with high risk of rubella infection. Eighteen women (58.1%) had rubella specific IgM, 11 women (35.5%) high titer of rubella specific IgG, and 2 women had a history of recent rubella vaccination within 3 months. RESULTS: PUBS was performed in all cases, successful in 27 cases (87.1%) and failed in 4 cases (12.9%). Cardiocentesis was performed in failed cases. Performing the PUBS, fetal bradycardia was observed in 7 cases (25.9%), fetal tachycardia in 1 case (14.8%), and preterm labor in 2 cases (7.4%). Performing cardiocentesis, fetal bradycardia was observed in 1 case (25.0%), fetal tachycardia in 2 cases (50.0%), and preterm labor in 1 case (25.0%). There was no fetal death. All samples of fetal blood were positive for rubella specific IgG but rubella specific IgM was detected in only 1 case. RT-PCR was negative in all cases. CONCLUSION: Fetal blood sampling is relatively safe and a great precaution is necessary before termination of pregnancy with suspicious fetal rubella infection and without typical maternal rash to reduce unnecessary termination of pregnancy. Several tests such as rubella specific IgM and PCR from placental villi, amniotic fluid, and fetal blood should be considered before termination of pregnancy.

Study on humerus length and humerus length/femur length ratio in correlation with gestational age to antenatal diagnosis

On 850 subjects, study was carried out on the correlation between the length of humerus and of femur (H/F) corresponding to the fetal age from 14 to 30 weeks. Results showed the reduction of H/F length ratio along the age because that the femur growth more quickly than the humerus. The ratio reduced from 0,99 in 19th week to 0,87 in 30th week. This correlation is very useful for antenatal diagnosis

A Case of Prenatally Diagnosed Klippel-Trenaunay-Weber Syndrome / 대한주산의학회잡지

Klippel-Trenaunay-Weber syndrome is a rare sporadically occurring congenital soft tissue anomaly characterized by cutaneous hemangiomata, hemihypertrophy and occasionally arteriovenous malformations(AVMs). No definite genetic defect has been identified. The appearance is a soft tissue mass of an extremity, usually affecting the adjacent trunk, hydrops fetalis, ascites, abdominal hemangiomatous masses, and hepatomegaly. When diagnosed prenatally, the disorder may be severe. Thrombocytopenia due to platelet consumption within the hemangioma and high output cardiac failure may complicate the outcome. Termination of pregnancy can be offered in severe forms, otherwise no alteration of management in expected. The management of newborns is primarily nonoperative, but some may benefit from surgical intervention. We report a case of Klippel-Trenaunay-Weber syndrome diagnosed prenatally by ultrasonogram in the second trimester and subsequently was terminated, with a brief review of literature.

A Case of Lissencephaly Dignosed by Magnetic Resonance Imaging / 대한주산의학회잡지

Lissencephaly is a rare disorder that is characterized by the disorganized and unlayered cortex. The cause of this disorder is related to chromosomal abnormalities or infection. The pathogenesis of lissencephaly is faulty migration of neuroblast. Lissencephaly is associated with Dandy-Walker syndrome and Miller-Dieker syndrome. A woman at 35 weeks of gestaion was transferred to our hospital due to abnormal antenatal sonographic findings (ventricular dilation and decreased sulci in cerebral cortex after 31 weeks of gestation). The antenatal studies showed none-specific findings. The infant was diagnosed lissencephaly by postnatal MRI evaluation and showed normal karyotype. We report the prenatal diagnosis of lissencephaly case with a literature.

A Case of Antenatally Detected Schizencephaly / 대한산부인과학회잡지

Schizencephaly is an unusual condition rarely detected antenatally. It is a neuronal migrational disorder consisting of clefts in the brain that communicate with the lateral ventricles. The etiology and the pathogenesis is not clearly estabilished. While some authors advocate a vascular insult with a secondary effect on brain development, others suggest a primary cerebral dysgenesis by genetic or acquired factors. The importance of making an accurate antenatal diagnosis is that the outcome for schizencephaly in considerably poor than for other causes of ventriculomegaly. Typical symtoms include seizures, mental retardation, spastic tetraplagia and blindness. We report a case of typeIIschizencephaly that was diagnosed antenatally in the third trimester with a brief reiew of literatures.

A case of prune-belly syndrome in antenatal ultrasonography / 대한산부인과학회잡지

Prune-belly syndrome is a rare compound fetal anomaly, characterized by absence or hypoplasia of abdominal wall musculature associated with urinary tract abnormalities and cryptorchidism. The prenatal ultrasound diagnosis was based on the findings of a lower abdominal cystic echo caused by abnormal dilatation of the bladder, upward compression of small intestines and decreased amniotic fluid volume. We experienced a case of Prune-belly syndrome diagnosed by ultrasound in a 12 weeks fetus following to IVF-ET pregnancy. Termination was performed at 12 weeks and autopsy confirmed the distended bladder, absence of abdominal muscles and urethra. So, we reported this case with a brief review of literature.

Contribution to the antenatal diagnosis in Ho Chi Minh city

After a presentation of the impact of antenatal diagnosis, the authors summarize the different steps in amniotic fluid culture, then assess the feasibility of fetal karyotying in Ho Chi Minh city.

Two Cases of Holoprosencephaly / 대한산부인과학회잡지

Holoprosencephaly is a rare malformation complex or development defect including different degrees of incomplete cleavages of the embryonic prosencephalon and varying degrees of the midface defects, resulting from the defect of prechordal mesoderm, migrating forward into the area anterior to the notochord during the third week of fetal development. Early antenatal diagnosis of holoprosencephaly is important to find out its severity, to predict its prognosis, and to determine proper management according to its prognosis and severity. The possibility of early antenatal diagnosis of holoprosencephaly by ultrasound has been suggested, but occasionally missed and rarely confirmed. We present one case of lobar holoprosencephaly, diagnosed postnatally and one case of alobar holoprosencephaly, diagnosed antenatally in our hospitals.