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PubMed1989

Fetal diaphragmatic hernia: the value of fetal echocardiography in the prediction of postnatal outcome.

Nineteen pregnancies complicated by fetal congenital diaphragmatic hernia (CDH) referred for fetal echocardiography have been reviewed. Congenital heart disease was diagnosed prenatally in three fetuses; in one of these the pregnancy was terminated, the two other infants died in the neonatal period. The presence of the fetal stomach within the thorax or a hernia/heart area ratio greater than 1.7 was associated with a large diaphragmatic defect. Polyhydramnios was not associated with a poor postnatal outcome. Evidence of cardiac ventricular disproportion before 24 weeks gestation in isolated CDH was associated with 100% mortality. Development of ventricular disproportion during the third trimester was associated with a survival rate of 75%. In three fetuses, all of whom survived, no ventricular disproportion was detected during the third trimester examination.

Echocardiography↗
PubMed1998

Endoscopic laser coagulation in the management of severe twin-to-twin transfusion syndrome.

OBJECTIVE: To assess the clinical effectiveness of endoscopic laser coagulation of placental vessels in the treatment of severe transfusion syndrome. DESIGN: Prospective study. SETTING: Three referral centres for the management of twin-to-twin transfusion syndrome. POPULATION: One hundred and thirty-two pregnancies complicated by severe twin-to-twin transfusion syndrome, reflected by polyhydramnios and enlarged bladder of one twin and oligoanhydramnios and collapsed bladder of the other twin, presenting before 28 weeks of gestation. METHODS: Prospective collection of data on pre-procedure assessment, the procedure and the follow up were collected prospectively. Laser coagulation of placental vessels crossing the intertwin membrane on the chorionic surface under sono-endoscopic guidance, followed by amniodrainage. MAIN OUTCOME MEASURES: Maternal and pregnancy complications, perinatal death and morbidity were assessed over the last five years with follow up of survivors. RESULTS: Endoscopic laser was carried out at a median gestation of 21 weeks. The total number of surviving infants was 144 (55%) and there was at least one survivor in 97 cases (73%). At a minimum age of one year neurological handicap was suspected in six survivors (4.2%). CONCLUSIONS: The results of this multicentre study are similar to those in our original report on the first 45 cases. In comparison with serial amniodrainage, the survival rate may be similar, but the handicap rate in survivors appears much lower. This study stresses the need for a prospective study comparing these two techniques.

Endoscopy↗
PubMed2006

Spontaneous pregnancy outcome after prenatal diagnosis of anencephaly.

Parents are usually told that many anencephalic offspring die in utero or soon after delivery, and many obstetricians offer elective termination of the pregnancy. Following the personal experience of the first author, a personal website was created with the intention of providing information and exchanging views with other parents confronted with a prenatal diagnosis of anencephaly. Data were collected from 211 pregnancies where the parents opted not to terminate pregnancy. These data revealed that polyhydramnios was a feature in 56 (26%) pregnancies, death in utero in 15 (7%) pregnancies, 72 (34%) babies were born prematurely (<37 weeks of gestation), 113 (53%) at term and 21 (10%) after 42 weeks. Stillbirth, presumably resulting from intrapartum death, occurred in 43 (20%) deliveries. One hundred and fifty-three (72%) of anencephalic offspring were liveborn, of those, 103 (67%) died within 24 hours but 6/211 survived 6 or more days (maximum 28 days). Continuation of pregnancy after a diagnosis of anencephaly is medically safe and should be considered as an option.

Anencephaly↗
PubMed1989

Ureteric obstruction by the gravid uterus.

This paper reports the only 6 cases of ureteric obstruction apparently caused by the gravid uterus diagnosed at the Mercy Maternity Hospital in the past 17 years, during which time there were 82,836 confinements. In 3 of the 6 cases there was clear radiographic evidence that the level of obstruction was at the pelvic brim. The rapid resolution of the ureteric obstruction shortly after delivery strongly suggested that the gravid uterus was the cause of the obstruction. Cases 1-3 were the only patients of 793 with polyhydramnios who developed bilateral ureteric obstruction and acute renal failure. In Cases 4 and 5 there was unilateral ureteric obstruction and pyelonephritis; in Case 4 a ureteric catheter was inserted from below, and in Case 5 a ureteric stent was inserted via a nephrostomy tube. In Case 6 a percutaneous nephrostomy tube was inserted.

Adolescent↗
PubMed1999

Prenatal diagnosis and management of sacrococcygeal teratoma.

Five fetuses, each with a sacrococcygeal teratoma (SCT) were delivered at the Royal Women's Hospital while 2 fetuses, each with a SCT were delivered at Monash Medical Centre in 1998. The number of cases reported in this series is higher than expected but it most likely occurred due to chance. The diagnosis was made prenatally in all cases. Three of the SCT were entirely external while the remaining 4 were external with intrapelvic extension. Rapid growth of the SCT occurred in 3 fetuses. This was associated with polyhydramnios in 2 fetuses. No fetus developed nonimmune hydrops. Six infants were liveborn (perinatal mortality rate of 14%), 3 of whom were delivered prior to 37 weeks' gestation. Two infants were delivered by classical Caesarean section. The remaining 4 infants were delivered by lower uterine segment Caesarean section. There was 1 perinatal death. This stillborn infant was delivered vaginally. The 6 surgical resections were performed between the 4th and 10th postnatal days. Histological examination confirmed the diagnosis of benign SCT in each. One infant developed a recurrence at 2 months of age and required chemotherapy.

Adult↗
PubMed1995

Gastric outlet obstruction and gastric infarct in junctional epidermolysis bullosa.

A newborn boy had junctional epidermolysis bullosa, duodenal obstruction, and gastric infarction, a newly described combination that extends the spectrum of gastrointestinal findings associated with junctional epidermolysis bullosa. The infant underwent feeding jejunostomy, but died 16 days after birth. This report emphasizes the need for gastrointestinal assessment in any neonate suspected of having epidermolysis bullosa, especially if the pregnancy was complicated by polyhydramnios.

Duodenal Obstruction↗
PubMedDate not supplied

Epidermolysis bullosa associated with congenital localized absence of skin, fetal abdominal mass, and pyloric atresia.

A 2320-g male infant was delivered at 35 weeks gestation to a mother who had polyhydramnios. He had a combination of congenital localized absence of skin, unilateral hydronephrosis, and hydroureter due to ureterovesical obstruction, and nonbilious vomiting due to pyloric atresia. Blistering of the skin developed after birth. Epidermolysis bullosa simplex was confirmed by electron microscopy of a skin biopsy specimen. We describe this patient, who had three unusual manifestations of epidermolysis bullosa.

Abnormalities, Multiple↗
PubMedDate not supplied

NSAIDs: maternal and fetal considerations.

Nonsteroidal anti-inflammatory drugs (NSAIDs) gained popularity in the late 1970s. Inhibition of prostaglandin synthesis with indomethacin has been reported to be effective for prevention of labor and for treatment for symptomatic polyhydramnios. Concern about its possible constrictive effect on the fetal ductus arteriosus has limited its use in pregnancy. Maternal indomethacin therapy has also been associated with reduction in urine production in the fetus and with oligohydramnios. Obstetricians have discouraged pregnant women from taking analgesic doses of aspirin, mainly because of the availability of paracetamol (acetaminophen), which causes less gastric irritation, but also because of fear of maternal and fetal hemorrhage and of possible premature closure of the ductus. These fears largely derive from studies on patients taking large doses and from extrapolation from other NSAIDs. The likelihood that treatment with 60-75 mg/day of aspirin markedly reduces the incidence of preeclampsia and fetal intrauterine growth retardation makes it important to reexamine its use. This review describes the pharmacology and pharmacokinetics of aspirin with particular reference to pregnancy and considers teratogenesis, prolongation of pregnancy and labor, maternal bleeding, fetal and neonatal bleeding, possible effects on the ductus arteriosus and pulmonary circulation, and possible nonspecific effects on intelligence and breast feeding and acute toxicity in the neonate.

Abnormalities, Drug-Induced↗
PubMed1976

Massive chronic feto-maternal bleeding associated with placental chorioangiomas.

After pregnancy complicated by polyhydramnios and the antenatal discovery of a very large placenta a newborn infant suffered from anemia, thrombocytopenia and hypoproteinemic edema, and was successfully treated by exchange transfusion. The placenta contained two chorioangiomas and there was diffuse placental hypertrophy with edema and patchy chorioangiomatosis. There was evidence of major chronic feto-maternal bleeding which could be the explanation for most of the hematological and biochemical problems which occurred. The child was developing normally at subsequent follow-up aged 15 weeks.

Anemia↗
PubMed1991

Unique brain anomalies in an infant of a diabetic mother.

An offspring of a class F diabetic primigravida with marginal control during the first 8 weeks of the gestation had a level II sonogram at 23 weeks. It showed polyhydramnios and "hydrocephaly." Macrosomia, right hydroureter, megacystis and premature birth corroborated the diagnostic impression of diabetic embryopathy. At age 3 years, the child functions within the moderate range of mental retardation. Angiography, choanogram, CT and MRI scans showed unique CNS abnormalities that appeared secondary to a hamartomatous growth within the left cerebral hemisphere. Such anomaly, most likely a part of the phenotype of the diabetic embryopathy, implies a growth disturbance secondary to dysregulated paracrine growth factors (somatomedins, nerve growth factor, panregulin and/or their receptors in this case). It also indicates a possibility of interaction between two dysregulated major growth mechanisms; the endocrine in the mother considered responsible for the overall phenotype of the diabetic embryopathy/fetopathy and the paracrine fine tuning mechanism in the embryo incriminated by the hamartomatous over/undergrowth.

Adult↗
PubMed1998

Legal problems related to obstetrical ultrasound.

Malpractice suits related to fetal anomalies are now the most common type of litigation involving ultrasound, surpassing ectopic pregnancy. Missing an anomaly on a sonogram performed for a standard indication, such as dating, is the most frequent type of litigation. Other causes of litigation include invented anomalies and unrecognized anomalies that are visible in retrospect on the ultrasonic images. Rarer causes of malpractice problems relate to failure to communicate the results of a sonogram in a timely fashion, failure to inform the patient of the findings about the sonogram at the time the patient is seen, and failure to perform ultrasound studies for anomalies when there is clinical indication to do so, such as elevated alpha-fetoprotein or polyhydramnios. The level of protection given by the obstetrical guidelines are discussed. Particular areas of concern relate to litigation involving missed fetal heart malformations, spina bifida, absent distal limbs, and twins.

Congenital Abnormalities↗
PubMed2001

Both maternal and fetal cell-free DNA in plasma fluctuate.

Elevations in the concentration of cell-free fetal DNA in maternal plasma have recently been determined in various pregnancy-related disorders, including preeclampsia, preterm labor, and polyhydramnios. In addition, almost 2-fold increments in cell-free fetal DNA levels have been recorded in pregnancies with certain aneuploid fetuses, in particular trisomy 21. These findings have led to the speculation that quantitative assessment of circulatory fetal DNA may be useful in the noninvasive prenatal diagnosis of certain fetal genetic constellations or pregnancy-related disorders. A premise for any quantitative analysis is that the quantity of the analyte being assayed does not vary greatly over time. As this aspect has not been examined for circulatory DNA levels, we examined these in normal healthy individuals as well as in pregnant women. Our data indicate that severalfold alterations in circulatory DNA amounts do occur over short periods of time. Of particular note is that we observed almost 2-fold variations in free fetal DNA levels over a period of 3 days, which are in a similar range to the elevations noted in aneuploid pregnancies. Our results, therefore, imply that caution should be used when using small increments in circulatory fetal DNA concentrations for potential diagnostic applications.

Cell-Free System↗
PubMed2024

SLC12A1 variant c.1684+1 G>A causes Bartter syndrome type 1 by promoting exon 13 skipping.

BACKGROUND: Bartter syndrome type 1, an autosomal recessive genetic disorder, is caused by pathogenic loss-of-function variants in the SLC12A1 gene. It is characterized by metabolic alkalosis and prenatal-onset polyuria leading to polyhydramnios. METHODS: We identified pathogenic gene in a 12-day-old newborn boy with Bartter syndrome type 1 using whole-exome sequencing. Sanger sequencing validated the identified variants. A minigene assay was performed to investigate the effect of a novel splice site variant on pre-mRNA splicing. RESULTS: We found a compound heterozygous variants in the SLC12A1 gene, consisting of a known pathogenic missense mutation (NM_000338: c.769 G>A; p.Gly257Ser) and a novel splice site variant (c.1684+1 G>A). In silico predictions and an in vitro minigene splicing assay demonstrated that the splicing variant c.1684+1 G>A abolished a consensus splice donor site of SLC12A1 intron 13, resulting in complete exon 13 skipping, translational frameshift, and premature termination codon, ultimately leading to loss of SLC12A1 function. CONCLUSION: Using a cell-based in vitro assay, we revealed the aberrant effect of the pathogenic splicing variant SLC12A1 c.1684+1 G>A on pre-mRNA splicing. Our findings expand the gene mutation spectrum of Bartter syndrome type 1, providing a basis for genetic diagnosis and the development of genetic medicines.

Humans↗
PubMed1992

Symmetrical thalamic lesions in infants.

Clinical observations and findings on imaging are reported in six newborns with symmetrical thalamic lesions (STL). In three cases the diagnosis was confirmed by postmortem examination. Characteristic observations in this series and 17 previously reported cases include no evidence of perinatal asphyxia, high incidence of polyhydramnios, absent suck and swallow, absent primitive reflexes, appreciable spasticity at or within days of birth, lack of psychomotor development, and death within days or months. Characteristic pathological findings include loss of neurons, astrogliosis, and 'incrusted' neurons particularly in the thalamus. In two thirds of cases the basal ganglia and brain stem are involved as well. A hypoxic-ischaemic event occurring two to four weeks before birth is most likely responsible for STL. Bilateral thalamic calcification can often, but not always, be demonstrated in the newborn period by computed tomography and/or cranial ultrasound. The presence of these calcifications and the observation of spasticity at birth imply that the responsible insult occurred at least two to four weeks earlier. The small number of published cases with STL suggest that it may be easily missed.

Adult↗
PubMed1994

Clinical and echographic features of in utero cardiac dysfunction in the recipient twin in twin-twin transfusion syndrome.

OBJECTIVE: Fetal twin-twin transfusion syndrome (TTTS) presenting in the second trimester has been associated with almost no perinatal survival until recently, when serial drainage of amniotic fluid has improved the prognosis to 70%-80%. Most recipient twins now survive but develop cardiac dysfunction. The study was undertaken to evaluate the abnormal echocardiographic features and clinical complications of cardiac disease in the recipient twin of TTTS. DESIGN: Antenatal and postnatal echocardiographic and clinical observational study. SETTING: Antenatal studies in a tertiary referral centre. Postnatal management and follow up were performed by the same paediatric cardiologist, either at the obstetric hospital or at the regional referral centre. PATIENTS: Twin pregnancies complicated by TTTS with severe polyhydramnios diagnosed earlier than 25 weeks that proceeded until viability (n = 5). INTERVENTION: Serial fetal echocardiography with colour Doppler. Postnatal echocardiography in the first week and between two and seven months. Serial amnioreduction was performed in all pregnancies. Digoxin treatment, pericardiocentesis, paracentesis, or laser ablation of placental anastomoses was undertaken when there was hydrops. RESULTS: Increased cardiothoracic ratio and tricuspid regurgitation were seen in all recipient twins. High pulmonary artery velocities developed in three. One recipient twin died a week after delivery of endocardial fibroelastosis and infundibular pulmonary stenosis. Two other had balloon dilatation for pulmonary stenosis, one shortly after birth and one at four months. A further twin has apical thickening of the right ventricle at six months. The remaining recipient twin had normal echocardiographic findings at follow up. CONCLUSION: This report characterises for the first time a cardiac disease acquired in utero in the recipient twin in pregnancies complicated by TTTS. Clinical manifestations in utero range from mild to critical pulmonary stenosis or lethal cardiomyopathy. Although perinatal prognosis seems to be related to the severity of dysfunction when first diagnosed in utero, follow up in infancy is recommended in view of the possibility of progressive pulmonary stenosis.

Echocardiography, Doppler↗
PubMed1978

Raised alpha-fetoprotein levels in amniotic fluid and maternal serum associated with distension of the fetal bladder caused by absence of urethra.

Raised alpha-fetoprotein concentrations were found at 29 and 30 weeks' gestation in the amniotic fluid and maternal serum of a woman who presented in her seventh pregnancy with apparent polyhydramnios. The fetus had multiple abnormalities including gross distension of the bladder resulting from absence of the urethra, intestinal artresia, and a congenital heart defect.

Abnormalities, Multiple↗
PubMed1989

Congenital hypothyroidism, spiky hair, and cleft palate.

Two brothers are described with athyroidal hypothyroidism, spiky hair, choanal atresia, cleft palate, and bifid epiglottis. Polyhydramnios was present in the third trimester of each pregnancy. These abnormalities appear to represent a new syndrome.

Child, Preschool↗
PubMed1991

Epidemiological and genetic study in 207 cases of oral clefts in Alsace, north-eastern France.

The epidemiology of oral clefts was studied in the geographical area covered by our registry of congenital malformations. For each of the 207 new cases studied during the period 1979 to 1987, more than 50 factors were compared in probands and controls. The incidence of oral clefts was 1.75 per 1000, with cleft lip/palate (CL(P] 0.98 and cleft palate only (CP) 0.77 per 1000. A total of 8.2% of cleft cases were stillbirths and 5.3% were induced abortions. The more common types of associated malformations in the 76 affected cases (36.7%) with at least one anomaly other than oral cleft were neural tube defects and skeletal malformations. At birth, infants with oral clefts and other malformations were smaller, weighed less, and their head circumference was lower than in controls. Placental weight was also lower than in controls. Pregnancies with oral clefts were more often complicated by threatened abortion, polyhydramnios, and arterial hypertension. There was a significant association between clefting and consanguinity; heritability of CL(P) was 81% and first degree relatives of probands had more than three times the prevalence of noncleft malformations as controls. These results are of relevance to genetic counselling.

Abnormalities, Multiple↗