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PubMed1981

The hydrolethalus syndrome: delineation of a "new", lethal malformation syndrome based on 28 patients.

We describe a lethal malformation syndrome in 28 newborn infants from 18 families. The main manifestations were hydrocephalus (often with an unusual structure of the brain and the occipital bone), very small mandible, polydactyly, congenital heart defect, abnormalities of the respiratory organs, and (different from the Meckel syndrome) normal kidneys. Polyhydramnios and stillbirth or neonatal death were the rule. Autosomal recessive inheritance is evident. This syndrome is another in the group of rare recessive disorders which are found in Finland. Because of the 25% recurrence risk and possibilities for prenatal diagnosis, this syndrome should be recognized by paediatricians and, because of the frequent stillbirths, also by obstetricians and pathologists. The name hydrolethalus syndrome (hydramnios, hydrocephalus, lethality) may be of help in this.

Abnormalities, Multiple↗
PubMed1997

Combined partial trisomy 3p/monosomy 5p resulting in sonographic abnormalities.

We report here a case of partial trisomy of the short arm of chromosome 3 combined with partial monosomy 5p due to malsegregation of a balanced maternal translocation t(3;5). The newborn demonstrated esophageal atresia and complex cerebral malformations. Conspicuous sonographic findings offering the chance of prenatal detection included polyhydramnios without visualization of the stomach, as well as a single umbilical artery. The child died 8 days postpartum.

Abnormalities, Multiple↗
PubMed1988

A case of hydrops fetalis due to placental chorioangioma.

A case of an infant born in association with a large chorioangioma of the placenta is reported. The mother was complicated with polyhydramnios and premature labor. The fetal complications were congestive heart failure and hydrops fetalis. This case serves to emphasize that it is necessary to examine the placenta in every perinatal autopsy case.

Female↗
PubMed1996

Fetal and neonatal haemodilution associated with multiple placental chorioangioma: case report.

A pregnancy with polyhydramnios and abnormal antepartum fetal heart rate pattern was found to have multiple placental haemangiomas. Multiple placental haemangiomas can give rise to fetal cardiac failure due to a hyperdynamic circulation or fetal anaemia either due to haemodilution or possibly destruction of blood cells in the chorioangioma. Whether fluid restriction with or without diuretics or blood transfusion is the correct form of treatment of neonatal cardiac failure in such a case is discussed.

Adult↗
PubMed2004

Airway management during an EXIT procedure for a fetus with dysgnathia complex.

Nonsyndromal dysgnathia is a rare disorder with a probable genetic basis characterized by a hypoplastic or absent mandible (agnathia), microstomia, microglossia, and ear anomalies secondary to a defect in the ventral portion of the first branchial arch caused by defective neural crest migration or proliferation. Dysgnathic newborn infants often suffer fatal respiratory failure from airway obstruction. Nineteen children with isolated dysgnathia complex are described in the literature--six were stillborn, eight died shortly after birth, and only five survived infancy. All survivors required tracheostomy to maintain an airway. It is difficult to intubate the trachea of these children and early airway management planning is important. We report a neonate who presented with a prenatal ultrasound diagnosis of severe micrognathia, polyhydramnios and a family history of severe micrognathia. Airway management was achieved with fiberoptic intubation through a laryngeal mask airway (LMA) during an ex utero intrapartum treatment procedure. Fiberoptic intubation was hampered by copious amounts of amniotic fluid. This child and her sibling are the first two siblings with isolated dysgnathia complex to have survived infancy and provide further support for a genetic basis to this condition.

Abnormalities, Multiple↗
PubMed1980

Ritodrine in the treatment of preterm labour. A clinical trial to compare a standard treatment with three regimens involving the use of ritodrine.

In a randomized trial, three alternative schemes of treatment of preterm labour with ritodrine (long infusion, short infusion, and intramuscular injection) were compared with standard treatment by bed rest and sedatives. None of the ritodrine treatments were found to be better in postponing delivery than the standard treatment. However, the Bishop scores of the patients in the standard treatment group tended to be lower than of the patients treated with ritodrine. Moreover, all cases of congenital malformation and polyhydramnios occurred in the patients treated with ritodrine. The incidence of respiratory insufficiency was significantly higher in infants of mothers treated with ritodrine. The mean birth weight was highest in the standard treatment group.

Adult↗
PubMed1984

The clinical significance of endometrial prolactin.

Prolactin (PRL) is produced not only by the anterior pituitary gland but also by human endometrium. That decidual stromal cells secrete PRL from day 22 of the menstrual cycle is demonstrated by: 1) nett accumulation of PRL during in vitro culture; 2) PRL accumulation is prevented by inhibitors of protein synthesis; and 3) identification of PRL mRNA within endometrial decidua. Endometrial PRL is biologically and immunologically equipotent with pituitary PRL and its amino acid sequence is very similar. In human pregnancy, decidual PRL binds to receptors on the fetal chorion and amnion and thereby passes into amniotic fluid in high concentration. Three putative functions of uterine PRL are suggested from current studies: a) a PRL receptor defect is present in the chorion laeve of patients with pregnancies complicated by chronic polyhydramnios and this deficiency in chorionic receptors for endometrial PRL may result in the development of excessive amniotic fluid; b) decidual PRL may modulate prostaglandin synthesis not only within the endometrium prior to menstruation, but also within the chorion and amnion to allow labour to proceed in a timely manner; and c) amniotic fluid PRL may pass into the fetal tracheo-bronchial system to promote surfactant production. Unlike pituitary PRL with distant target organs, decidual PRL appears to have paracrine or cybernetic functions in the human uterus, placental membranes and the fetus.

Decidua↗
PubMed1998

Do multiple measurements employing different ultrasonic techniques improve the accuracy of amniotic fluid volume assessment?

This investigation was undertaken to determine if the accuracy of the ultrasound assessment of abnormal amniotic fluid volume (oligohydramnios or polyhydramnios) is improved by employing multiple sonographic amniotic fluid measurements. Four ultrasound techniques consisting of the subjective assessment (ultrasonic visualization without measurement), largest vertical pocket, amniotic fluid index and 2-diameter pocket technique were performed followed by amniocentesis and dye-dilution confirmation of amniotic fluid volume in 66 singleton pregnancies. The ultrasound accuracy to detect abnormal amniotic fluid volume ranged from 61% with the largest vertical pocket to 70% with the 2-diameter pocket procedure used separately. Receiver operator characteristic curves demonstrated that combining the 4 ultrasonic measurements did not improve the accuracy of identifying amniotic fluid volumes.

Adolescent↗
PubMed1998

Fetal brain death syndrome--a case report and literature review.

This case describes a new feature of fetal brain death syndrome, abnormal movements mimicking fetal convulsions being subsequently found to be decerebrate hypertonicity in a brain-dead fetus. It also confirms the diagnostic criteria of fetal brain death, both clinical and ultrasonic. The development of polyhydramnios both prior to and after the presumed neurological event is suggested as an association with the diagnosis of fetal brain death. Increased awareness of this event and the heterogeneity of the presentation may prevent further unnecessary Caesarean sections, as to date only 4 of the 10 cases in the literature were diagnosed prenatally. Utilization of techniques such as fetal blood sampling should be considered to further delineate the diagnosis.

Adult↗
PubMed1995

Outcome of pregnancy in women with myotonic dystrophy and analysis of CTG gene expansion.

Pregnancy outcome was investigated in 32 women with clinically obvious myotonic dystrophy. The results indicated that there are two groups of women, those whose children have the adult type of myotonic dystrophy and those whose children have the congenital type. The overall perinatal mortality was 14%. Polyhydramnios was an obvious sign of the congenital type. No subclinical gene carrier was found among the children. We conclude that prenatal diagnosis should be offered to women with myotonic dystrophy, particularly to those who have previously given birth to a child with the congenital type.

Chromosomes, Human, Pair 19↗
PubMed1996

Congenital chloride diarrhoea: a prenatal differential diagnosis of small bowel atresia.

We compared ultrasound findings and pre- and postnatal clinical signs in 8 patients with congenital chloride diarrhoea and 14 with small bowel atresia diagnosed in 1977-1991 in order to evaluate the possibility of a prenatal distinguishing diagnostic sign. In the patients with congenital chloride diarrhoea the pregnancy was complicated by marked polyhydramnios, the symphysis-fundus distance exceeded + 2 SD before gestational week 31 and the fetus displayed normal peristalsis in extensively dilated intestines and the "frog position". In the patients with small bowel atresia the symphysis-fundus distance was normal before gestational week 31 and the fetus displayed increased peristalsis in a few dilated intestinal loops.

Chlorides↗
PubMed2005

Fetal case of congenital cystic adenomatoid malformation of the lung: fetal therapy and a review of the published reports in Japan.

We herein report a case of type I congenital cystic adenomatoid malformation of the lung (CCAML) with non-immune hydrops fetalis (NIHF), a mediastinal shift and polyhydramnios diagnosed at 24 weeks' gestation by ultrasonography. The fetus was treated with a cyst-amniotic shunt at 29 weeks' gestation. Following a postnatal whole resection of the right lung, postpneumonectomy syndrome appeared and, as a result, the infant died 13 months after delivery due to respiratory failure. Only 19 cases demonstrating CCAML associated with NIHF have been reported previously in Japan. Four cases showed a spontaneous resolution of NIHF, while 5 cases with type I CCAML, which all underwent fetal intervention, demonstrated an excellent outcome.

Abnormalities, Multiple↗
PubMed1992

A clinical study of Noonan syndrome.

Clinical details are presented on 151 individuals with Noonan syndrome (83 males and 68 females, mean age 12.6 years). Polyhydramnios complicated 33% of affected pregnancies. The commonest cardiac lesions were pulmonary stenosis (62%), and hypertrophic cardiomyopathy (20%), with a normal echocardiogram present in only 12.5% of all cases. Significant feeding difficulties during infancy were present in 76% of the group. Although the children were short (50% with a height less than 3rd centile), and underweight (43% with a weight less than 3rd centile), the mean head circumference of the group was on the 50th centile. Motor milestone delay was usual, the cohort having a mean age of sitting unsupported of 10 months and walking of 21 months. Abnormal vision (94%) and hearing (40%) were frequent findings, but 89% of the group were attending normal primary or secondary schools. Other associations included undescended testicles (77%), hepatosplenomegaly (50%), and evidence of abnormal bleeding (56%). The mean age at diagnosis of Noonan syndrome in this group was 9.0 years. Earlier diagnosis of this common condition would aid both clinical management and genetic counselling.

Adolescent↗
PubMed1991

Mosaic partial trisomy 17q2.

Examination of an infant born after prenatal diagnosis of mosaic partial trisomy 17q2 showed the unique phenotypic features of this chromosomal abnormality, that is, frontal bossing, large mouth, brachyrhizomelia, and hexadactyly. Amniocentesis was performed because of polyhydramnios and ultrasound diagnosis of fetal craniofacial dysmorphology and rhizomelic shortening of the limbs. Chromosomal mosaicism was restricted to fetal tissue and amniotic fluid cells. The placental chromosomal complement was normal, suggesting that the abnormality developed after differentiation of embryonic and trophoblastic cells. This emphasises the usefulness of cytogenetic evaluation of placental, fetal, and amniotic fluid cells in delineating the pathogenesis of congenital abnormalities.

Abnormalities, Multiple↗
PubMed1987

Meconium peritonitis: prenatal sonographic findings and their clinical significance.

Ultrasonographic (US) findings were correlated with clinical outcome in seven cases of meconium peritonitis detected with prenatal US during a 2-year period. Nineteen previously reported cases were also reviewed. US findings included intraabdominal calcifications (n = six cases), fetal ascites (n = 3), echogenic ascites without calcifications (n = 1), bowel dilatation (n = 2), and polyhydramnios (n = 5). Following delivery, six infants were still alive after a mean follow-up of 13 months (range, 6-26 months); the seventh died of hydrocephalus. Of the six, four required surgical correction of a small-bowel perforation and two did not. All six are thriving, and none has yet been found to have cystic fibrosis. In the 19 previously reported cases, there were only two cases of cystic fibrosis, neither with intraabdominal calcifications. The presence of calcifications was significantly associated with causes other than cystic fibrosis. Prenatally diagnosed cases of meconium peritonitis are associated with cystic fibrosis less frequently than previous studies suggest.

Ascites↗
PubMedDate not supplied

Prenatal diagnosis of a lethal multiple pterygium syndrome type II. Case report.

Advances in ultrasound technology and sonographer's experience lead to the description of many rare syndromes and malformations through prenatal diagnosis. Diaphragmatic hernia is a rather common malformation but can be an indicator of different syndromes. We report the prenatal diagnosis of lethal multiple pterygium syndrome type II which has been established in the 34th week of pregnancy. The sonographically detectable symptoms consisted of polyhydramnios, hygroma colli, diaphragmatic hernia, scoliosis, short forearms, hypokinesia of the fetus and pterygia over the large joints. Labour was induced in the 34th week of pregnancy; the neonate died shortly after vaginal delivery as a result of the pulmonary hypoplasia. A multidisciplinary approach in prenatal assessment may help to clarify difficult diagnostic problems and may be of direct benefit for the pregnant patient.

Abnormalities, Multiple↗
PubMedDate not supplied

A fetus with Prader-Willi syndrome showing normal diurnal rhythm and abnormal ultradian rhythm on heart rate monitoring.

Clinical features of Prader-Willi syndrome in neonates are marked hypotonia with the absence of crying and feeding difficulty so that prenatal diagnosis of Prader-Willi syndrome is strongly hoped in order to provide appropriate medical and psychological care for neonates and their families. However, the clinical picture of Prader-Willi syndrome in utero has not been well described. We report a pregnancy associated with Prader-Willi syndrome manifesting polyhydramnios, large biparietal diameter of the fetus and characteristic fetal heart rate pattern: prolonged inactive periods and diurnal variation of the incidence of heart rate accelerations. These findings may offer a clue to the prenatal diagnosis of Prader-Willi syndrome, although molecular cytogenetics is mandatory for the definite diagnosis.

Activity Cycles↗