-
Revista Chilena de Pediatria Aug 2019Bartter syndrome (BS) is a rare inherited tubulopathy that has two presentation forms, the first one is a severe form of antenatal onset (neonatal Bartter) and the... (Review)
Review
INTRODUCTION
Bartter syndrome (BS) is a rare inherited tubulopathy that has two presentation forms, the first one is a severe form of antenatal onset (neonatal Bartter) and the second one is a later on set form during the first years of life (classic Bartter). In the antenatal form, it manifests with fetal polyuria, polyhydramnios of early and severe onset, premature delivery, and intrauterine growth restriction. In the postnatal stage, it presents recurrent episodes of dehydration and electrolyte im balance that can compromise the survival of the patient.
OBJECTIVE
To report a clinical case of neo natal BS and a review of the literature.
CLINICAL CASE
Premature newborn of 35 weeks of gestation with history of severe polyhydramnios diagnosed at 27 weeks of gestation, without apparent cause. From birth, the patient presented polyuria and hypokalemic metabolic alkalosis making a diagnosis of Neonatal Bartter Syndrome in the first week of life. Laboratory tests confirmed urinary electrolyte losses. The patient was treated with strict water balance and sodium and potassium supplementa tion, achieving weight and electrolyte imbalance stabilization. The patient remains in control in the nephrology unit, with potassium gluconate and sodium chloride supplementation. At the fourth month, ibuprofen was added as part of treatment. At the seventh month of life, renal ultrasound showed nephrocalcinosis. At one year of life, profound sensorineural hearing loss was observed re quiring a cochlear implant.
CONCLUSION
The presence of severe polyhydramnios of early onset with no identified cause should lead to suspicion of neonatal BS which even when infrequent determines severe hydroelectrolytic alterations and should be treated early.
Topics: Adult; Bartter Syndrome; Female; Hearing Loss, Sensorineural; Humans; Ibuprofen; Infant; Infant, Newborn; Nephrocalcinosis; Polyhydramnios; Pregnancy
PubMed: 31859717
DOI: 10.32641/rchped.v90i4.932 -
Journal of Obstetrics and Gynaecology... Aug 2022Otocephaly is a rare malformation characterized by agnathia (absence of the mandible), melotia (medially displaced ear pinna), aglossia (absence of the tongue) and...
INTRODUCTION
Otocephaly is a rare malformation characterized by agnathia (absence of the mandible), melotia (medially displaced ear pinna), aglossia (absence of the tongue) and microstomia (small oral aperture). This results due to failure of migration of the neural crest cells and is a defect of the first branchial arch. It is incompatible with life and early prenatal diagnosis is useful.
CASE REPORT
Our patient a primigravida with 19 weeks 6 days gestation was referred for micrognathia and polyhydramnios. On ultrasound examination, she had unilateral mild ventriculomegaly and posterior fossa cyst in the fetal brain. The fetus had agnathia and anophthalmia. There was an echogenic intracardiac focus and echogenic bowel. The stomach was not seen clearly. This could be due to agnathia and microstomia leading to swallowing difficulties. The patient was explained about the guarded prognosis. The pregnancy was terminated. A diagnosis of otocephaly was made.
DISCUSSION
Otocephaly is a rare disorder of development of the first branchial arch. The reported incidence is 1 in 70,000. It is mostly lethal due to respiratory difficulties and may be associated with cranial and extracranial malformations. Most case reports have found that it is sporadic and could be due to mutations in the PRRX1 gene. Other anomalies that may be associated with otocephaly are neural tube defects, cephalocele, dysgenesis of corpus callosum, atresia of the third ventricle, midline probocis, hypotelorism, renal ectopia, cyclopia, vertebral and rib abnormalities, tracheo esophageal fistula, cardiac anomalies and adrenal hypoplasia. Most of the cases reported so far were diagnosed in the second or the third trimester. Facial anomaly screening has undergone a huge evolution in the recent years. In addition to the usual facial screening, we recommend mandibular arch screening in the first and early second trimester. If there is a doubt the patient may be called back at 15 to 16 weeks of gestation considering the fact that these anomalies are usually lethal and medical termination is safer earlier in pregnancy than later. MRI may be a handy tool to confirm antenatal diagnosis as it can detect the abnormal ears. Agnathia and polyhydramnios occur together in the third trimester but in the first or second trimester polyhydramnios may not be observed.
CONCLUSION
Otocephaly, though rare, poses a clinical challenge for both patient and the reporting doctor. Considering the time limitation for termination of pregnancy in our country, early prenatal diagnosis is important. A detailed face evaluation in the first trimester can help detect this defect as early as 11-14 weeks. Early diagnosis of lethal anomalies helps in completing the fetal work up and offering a safer termination. Correct diagnosis and work up of fetal anomalies allows for documentation and awareness of the presence of these conditions in our population.
PubMed: 35923505
DOI: 10.1007/s13224-021-01494-x -
Obstetrics & Gynecology Science Jan 2021We investigated prenatal sonographic characteristics of esophageal atresia (EA) with advancing gestation. We focused on the degree of polyhydramnios and the stomach...
OBJECTIVE
We investigated prenatal sonographic characteristics of esophageal atresia (EA) with advancing gestation. We focused on the degree of polyhydramnios and the stomach shape.
METHODS
This study included 27 EA cases (EA group) and 81 idiopathic polyhydramnios cases (non-EA group). The non-EA group consisted of cases without any fetal structural anomaly, musculoskeletal disorder, chromosomal abnormality, or maternal diabetes. Both groups included only singleton pregnancies. Amniotic fluid index (AFI) and width/length (W/L) ratio as well as the product of width and length (W×L) of stomach were serially assessed during gestation and compared between the 2 groups. To predict EA using W/L ratio and W×L, receiver operating characteristic curve analysis was performed.
RESULTS
Polyhydramnios was evident in 77.8% of EA cases. We observed 25.9% and 22.2% EA cases with an absent stomach and a small visible stomach, respectively. After 28 weeks, the EA group manifested significantly higher AFI than the non-EA group. After 32 weeks, W/L ratio in the EA group tended to be lower than that in the non-EA group (32-36 weeks: 1.36 vs. 1.72, P=0.092; >36 weeks: 1.43 vs. 1.63, P=0.024). To predict EA, the calculated area under the curve for W/L ratio was 0.651 after 32 weeks. The diagnosis of EA using a cut-off value of W/L ratio <1.376 showed sensitivity, specificity, positive likelihood ratio, and negative likelihood ratio to be 84.6%, 52.9%, 1.796, and 0.081, respectively.
CONCLUSION
A low W/L ratio of stomach after 32 weeks with progressive idiopathic polyhydramnios may be used to predict EA.
PubMed: 33285619
DOI: 10.5468/ogs.20207 -
Frontiers in Medicine 2022Bartter syndrome, a very rare inherited renal tubular disorder, characterized by urinary salt wastage, hypokalemia, polyuria, and metabolic alkalosis, may manifest...
BACKGROUND
Bartter syndrome, a very rare inherited renal tubular disorder, characterized by urinary salt wastage, hypokalemia, polyuria, and metabolic alkalosis, may manifest antenatally as severe isolated polyhydramnios. Indomethacin is known to reduce salt wastage and subsequent polyhydramnios during pregnancy; however, it reduces the Ductus Arteriosus diameter among other potential complications, such as inhibition of gastrointestinal perfusion and increasing the risk of renal toxicity.
CASE
A 36-year-old multigravida presented with severe isolated polyhydramnios at 30 weeks of gestation. Based on a history of a previous pregnancy affected with Bartter syndrome, indomethacin was initiated. Amniotic fluid volume and Ductus Arteriosus diameter were monitored. As evidence lacks on optimal dose and duration of indomethacin, multiple-dose adjustments were made to reduce the amniotic fluid volume while maintaining normal Ductus Arteriosus diameter. Progressive polyhydramnios led to Cesarean section at 34+ weeks of gestation resulting in a healthy fetus diagnosed with Bartter syndrome in the early neonatal period.
CONCLUSION
We share our experience in the adjustment of the dose and duration of Indomethacin therapy in the treatment of severe polyhydramnios associated with antenatal Bartter syndrome. Amniotic fluid index, Ductus Arteriosus diameter, and umbilical artery doppler work together as key indicators to guide the success and safety of the therapy.
PubMed: 35847797
DOI: 10.3389/fmed.2022.870503 -
Italian Journal of Pediatrics Sep 2023Tumors are rare in neonatal age. Congenital mesoblastic nephroma (CMN) is a usually benign renal tumor observed at birth, or in the first months of life. It may also be...
BACKGROUND
Tumors are rare in neonatal age. Congenital mesoblastic nephroma (CMN) is a usually benign renal tumor observed at birth, or in the first months of life. It may also be identified prenatally and associated with polyhydramnios leading to preterm delivery. Effective treatment is surgical in most cases, consisting in total nephrectomy. In literature, very few studies report on the neonatal management of such a rare disease, and even less are those describing its uncommon complications.
CASES PRESENTATION
We report on two single-center newborns affected with CMN. The first patient is a preterm female baby, born at 30 weeks of gestation (WG) due to premature labor, with prenatal (25 WG) identification of an intra-abdominal fetal mass associated with polyhydramnios. Once obtained the clinical stability, weight gain, instrumental (computed tomography, CT, showing a 4.8 × 3.3 cm left renal neoformation) and histological/molecular characterization of the lesion (renal needle biopsy picture of classic CMN with ETV6-NTRK3 translocation), a left nephrectomy was performed at 5 weeks of chronological age. The following clinical course was complicated by intestinal obstruction due to bowel adherences formation, then by an enterocutaneous fistula, requiring multiple surgical approaches including transitory ileo- and colostomy, before the conclusive anastomoses intervention. The second patient is a 17-day-old male term baby, coming to our observation due to postnatal evidence of palpable left abdominal mass (soon defined through CT, showing a 7.5 × 6.5 cm neoformation in the left renal lodge), feeding difficulties and poor weight gain. An intravenous diuretic treatment was needed due to the developed hypertension and hypercalcemia, which regressed after the nephrectomy (histological diagnosis of cellular CMN with ETV6-NTRK3 fusion) performed at day 26. In neither case was chemotherapy added. Both patients have been included in multidisciplinary follow-up, they presently show regular growth and neuromotor development, normal renal function and no local/systemic recurrences or other gastrointestinal/urinary disorders.
CONCLUSIONS
The finding of a fetal abdominal mass should prompt suspicion of CMN, especially if it is associated with polyhydramnios; it should also alert obstetricians and neonatologists to the risk of preterm delivery. Although being a usually benign condition, CMN may be associated with neonatal systemic-metabolic or postoperative complications. High-level surgical expertise, careful neonatological intensive care and histopathological/cytogenetic-molecular definition are the cornerstones for the optimal management of patients. This should also include an individualized follow-up, oriented to the early detection of any possible recurrences or associated anomalies and to a better quality of life of children and their families.
Topics: Infant, Newborn; Infant; Child; Pregnancy; Humans; Female; Male; Nephroma, Mesoblastic; Premature Birth; Follow-Up Studies; Polyhydramnios; Quality of Life; Kidney Neoplasms; Recurrence
PubMed: 37726782
DOI: 10.1186/s13052-023-01523-7 -
Diagnostic and Interventional Imaging Apr 2013To propose polyhydramnios seen during prenatal diagnosis as a warning sign of foetal malformation.
PURPOSE
To propose polyhydramnios seen during prenatal diagnosis as a warning sign of foetal malformation.
PATIENTS AND METHODS
A retrospective multicentre study over a three-year period carried out in Ivory Coast and Burkina Faso. We reviewed 3903 obstetric ultrasound reports. All cases of foetal malformation and polyhydramnios were counted. The instances of foetal malformation associated with polyhydramnios were compared to those of foetal malformation without polyhydramnios and to polyhydramnios only.
RESULTS
A list of 72 cases of polyhydramnios was made (equating to 1.8%). In 55 cases (76.4%), polyhydramnios was combined with foetal malformation. These were lethal abnormalities in 33 cases and non-lethal in 22 cases. In 17 cases, polyhydramnios was not associated with any foetal malformations and in eight cases, foetal malformation was discovered in the absence of polyhydramnios. Polyhydramnios had a positive predictive value of 76.4% for the presence of foetal malformation. The negative predictive value was 99.8%. Sensitivity was 87.3% and specificity was 99.5%.
CONCLUSION
Polyhydramnios is a highly sensitive and specific sign for prenatal diagnosis of foetal malformation. If it is identified, then this should lead to a very careful search for foetal malformation.
Topics: Anencephaly; Burkina Faso; Congenital Abnormalities; Cote d'Ivoire; Cross-Sectional Studies; Female; Humans; Infant, Newborn; Polyhydramnios; Pregnancy; Pregnancy Trimester, Second; Pregnancy Trimester, Third; Retrospective Studies; Sensitivity and Specificity; Ultrasonography, Prenatal
PubMed: 23403339
DOI: 10.1016/j.diii.2013.01.002 -
Scientific Reports Jan 2022To assess the spectrum of different etiologies, the intrauterine course, outcome and possible prognostic markers in prenatally detected fetal growth restriction (FGR)...
To assess the spectrum of different etiologies, the intrauterine course, outcome and possible prognostic markers in prenatally detected fetal growth restriction (FGR) combined with polyhydramnios. Retrospective study of 153 cases with FGR combined with Polyhydramnios diagnosed by prenatal ultrasound over a period of 17 years. Charts were reviewed for ultrasound findings, prenatal and postnatal outcome. All cases were categorized into etiological groups and examined for differences. Five etiological groups were identified: chromosomal anomalies (n = 64, 41.8%), complex malformation syndromes (n = 37, 24.1%), isolated malformations (n = 24, 15.7%), musculoskeletal disorders (n = 14, 9.2%) and prenatal non-anomalous fetuses (n = 14, 9.2%). Subgroups showed significant disparities in initial diagnosis of combination of both pathologies, Ratio AFI/ gestational weeks and Doppler ultrasound examinations. Overall mortality rate was 64.7%. Fetuses prenatally assigned to be non-anomalous, showed further complications in 42.9% (n = 6). Fetuses prenatally diagnosed with FGR combined with polyhydramnios are affected by a high morbidity and mortality. Five etiologic groups can be differentiated, showing significant disparities in prenatal and postnatal outcome. Even without recognizable patterns prenatally, long-term-follow up is necessary, as neurodevelopmental or growth delay may occur.
Topics: Abortion, Induced; Female; Fetal Death; Fetal Growth Retardation; Humans; Infant, Newborn; Live Birth; Male; Perinatal Death; Polyhydramnios; Predictive Value of Tests; Pregnancy; Prognosis; Retrospective Studies; Risk Assessment; Risk Factors; Ultrasonography, Doppler; Ultrasonography, Prenatal
PubMed: 35013541
DOI: 10.1038/s41598-021-04371-9 -
Ultrasound in Obstetrics & Gynecology :... Jan 2008This review aims to provide a rational and ethical basis for prenatal testing for uniparental disomy (UPD) in cases with abnormal ultrasound findings or numeric and/or... (Review)
Review
This review aims to provide a rational and ethical basis for prenatal testing for uniparental disomy (UPD) in cases with abnormal ultrasound findings or numeric and/or structural chromosomal aberrations in chorionic villous or amniotic fluid samples. The clinical phenotypes of the genomic imprinting-associated paternal UPD 6 (transient neonatal diabetes mellitus), maternal UPD 7 (Silver-Russell syndrome), paternal UPD 11p (Beckwith-Wiedemann syndrome), maternal UPD 14 (precocious puberty, short stature and highly variable developmental delay), paternal UPD 14 (polyhydramnios and a bell-shaped thorax), maternal UPD 15 (Prader-Willi syndrome), paternal UPD 15 (Angelman syndrome), maternal UPD 16 and UPD 20, as well as the diagnostic options, are summarized. In addition, the clinical impact of UPD testing and its relevance in various prenatal diagnostic situations are discussed. As a general rule, prenatal UPD testing, following genetic counseling, is justified if paternal UPD 14, maternal UPD 15 or paternal UPD 15 are suspected. In contrast, considering the mild phenotypes of paternal UPD 6 and maternal UPD 7, prenatal UPD testing is questionable. Because of the highly variable phenotype for paternal UPD 11p, maternal UPD 14 and maternal UPD 16, prenatal testing should be discussed critically on an individual basis. For all other chromosomes, prenatal UPD testing is purely academic and should therefore not be performed on a routine basis, particularly because a positive result might confuse the parents more than it actually helps them.
Topics: Cytogenetic Analysis; Female; Genetic Counseling; Genomic Imprinting; Humans; Male; Phenotype; Pregnancy; Prenatal Diagnosis; Uniparental Disomy
PubMed: 18059071
DOI: 10.1002/uog.5133 -
Taiwanese Journal of Obstetrics &... Jun 2007Beckwith-Wiedemann syndrome (BWS, OMIM 130650) is characterized by macrosomia, macroglossia, visceromegaly, hemihypertrophy, abdominal wall defects, ear creases/pits,... (Review)
Review
Beckwith-Wiedemann syndrome (BWS, OMIM 130650) is characterized by macrosomia, macroglossia, visceromegaly, hemihypertrophy, abdominal wall defects, ear creases/pits, neonatal hypoglycemia, polyhydramnios, placentomegaly, placental mesenchymal dysplasia, cardiac defects, nevus flammeus, hemangiomata, and an increased frequency of embryonal tumors. This article provides an overview of BWS including the genetics, genetic diagnosis, genotype/epigenotype-phenotype correlations, association with assisted reproductive technology, and prenatal diagnosis. Omphalocele is an important sonographic marker for BWS. Prenatal detection of omphalocele, fetal overgrowth, polyhydramnios, increased abdominal circumference, placentomegaly and/or placental mesenchymal dysplasia should alert one to the possibility of BWS and prompt a genetic investigation and counseling for BWS.
Topics: Beckwith-Wiedemann Syndrome; Cyclin-Dependent Kinase Inhibitor p57; Female; Genotype; Hernia, Umbilical; Histone Methyltransferases; Histone-Lysine N-Methyltransferase; Humans; Insulin-Like Growth Factor II; Intracellular Signaling Peptides and Proteins; KCNQ1 Potassium Channel; Membrane Proteins; Nuclear Proteins; Potassium Channels, Voltage-Gated; Pregnancy; Prenatal Diagnosis; RNA, Long Noncoding; RNA, Untranslated; Reproductive Techniques, Assisted
PubMed: 17638616
DOI: 10.1016/S1028-4559(07)60002-3 -
Journal of Nippon Medical School =... 2019Twin to twin transfusion syndrome (TTTS) is a major complication of monochorionic diamniotic (MD) twins, and its onset is known to be associated with placental vascular... (Review)
Review
Twin to twin transfusion syndrome (TTTS) is a major complication of monochorionic diamniotic (MD) twins, and its onset is known to be associated with placental vascular anastomoses and blood flow imbalance. In a typical case of TTTS, the recipient develops polyhydramnios, weight gain, cardiomegaly and hydrops fetalis in the uterus. In contrast, the donor develops oligohydramnios and intrauterine growth restriction. Recently, the significance of the renin-angiotensin-aldosterone system (RAAS) that transfers from the donor to the recipient has attracted interest in the fetal circulation of TTTS. The donor has decreased renal blood flow due to decreased circulating blood volume. For this reason, the secretion of RAAS hormones is augmented in the fetal kidneys of the donor. In TTTS, these RAAS hormones from the donor transfer to the recipient through the anastomosed vessels. In addition to excess preload, the recipient heart is exposed to excess afterload due to systemic vasoconstriction through RAAS hormones. Commonly occurring complications in the recipient include myocardial hypertrophy, atrioventricular valve regurgitation, and pulmonary valve stenosis or pulmonary atresia. Fetoscopic laser photocoagulation (FLP) has been introduced recently because neither mortality nor neurological morbidity have been satisfactorily improved with conventional treatment. FLP is a curative method that may improve the prognosis of TTTS. In Japan, this procedure has been performed frequently, and positive neurological outcomes have been achieved.
Topics: Blood Volume; Cardiomegaly; Female; Fetal Diseases; Fetal Growth Retardation; Fetofetal Transfusion; Fetoscopy; Fetus; Humans; Low-Level Light Therapy; Polyhydramnios; Pregnancy; Prognosis; Pulmonary Valve Stenosis; Renal Circulation; Renin-Angiotensin System
PubMed: 31484880
DOI: 10.1272/jnms.JNMS.2019_86-301