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PubMed1992

The Baller-Gerold syndrome.

A case of severe craniosynostosis-radial aplasia (Baller-Gerold) syndrome is described in a newborn male, following a pregnancy complicated by polyhydramnios and intrauterine growth retardation. Death occurred after two hours owing to a prolonged apnoeic spell. Extensive agenesis of the frontal and parietal bones, resulting in a very large fontanelle, in addition to coronal bilateral craniosynostosis was observed at necropsy. There was also bilateral radial agenesis, oligodactyly of the hands and feet, a midline facial angioma, and a scrotally positioned anus, all of which have been described in some of the 10 previously reported cases. Microcephaly, erythroblastosis of the liver, and pancreatic islet cell hypertrophy were also noted.

Abnormalities, Multiple↗
PubMed1995

Prenatal detection of short arm deletion and isochromosome 18 formation investigated by molecular techniques.

A patient was referred for amniocentesis because of advanced maternal age and polyhydramnios. The fetal karyotype was a mosaic 46,XX,del(18)(p11.1)/46,XX,-18,+i(18q)de novo. The deletion appeared to encompass the whole short arm as evidenced by G banding and in situ hybridisation. However, telomere sequences were found on both ends of the deleted chromosome as well as the isochromosome. The normal 18 and the isochromosome showed more alphoid sequences than the del(18). Subsequent passages of the cell lines showed an increase in the frequency of the isochromosome from 20% to about 30%. Possible mechanisms are discussed.

Adult↗
PubMed1976

Ultrasound in the evaluation of anencephaly.

Three cases of anencephaly diagnosed in utero by ultrasound are presented and the ultrasound diagnostic criteria for anencephaly are illustrated. The literature regarding anencephaly is reviewed and the malformation discussed. Diagnostic ultrasound should be used to screen high-risk patients for this fetal anomaly. In addition, all patients clinically suspected of possible fetal malformation or polyhydramnios should be examined by ultrasound.

Adult↗
PubMed1995

Teratomas, dermoids, and epidermoids of the head and neck.

Dermoids and epidermoids are ectoderm-lined inclusion cysts that differ in complexity: Epidermoids have only squamous epithelium; dermoids contain hair, sebaceous and sweat glands, and squamous epithelium. Both arise from trapped pouches of ectoderm, near normal folds, or from failure of surface ectoderm to separate from the neural tube. These slowly expanding, unilocular, cystic masses may produce only mild symptoms. They commonly occur in the orbit, calvarial diploic space, and intracranially (the posterior and middle fossae). They may be complicated by rupture leading to chemical meningitis, and dermoids with a fistulous tract can become infected. Craniofacial teratomas are true neoplasms arising from misplaced embryologic germ cells. They contain a medley of heterogeneous tissues, typically reflecting more than one of the three embryonic germ layers. They are usually multiloculated masses, often large, with complex radiologic characteristics. Craniofacial teratomas may manifest prenatally with macrocrania or polyhydramnios, during a difficult delivery, or postnatally as a life-threatening mass causing brain herniation, hydrocephalus, respiratory distress, or feeding difficulty. In infancy, they can be biologically benign, even when their histologic characteristics are immature. Surgery is the treatment of choice for all three masses and may be curative.

Adolescent↗
PubMed1983

Congenital diaphragmatic hernia diagnosed prenatally by ultrasound.

Seven infants born at our institution between July 1979 and June 1982 had congenital diaphragmatic hernia (CDH). Four cases of CDH were correctly identified by fetal ultrasonography. Diagnosis relied upon the demonstration of abdominal organs within the thorax. During this period, no false positive diagnoses of CDH were made. Significant associated sonographic features included polyhydramnios, mediastinal displacement, and distorted upper abdominal anatomy.

False Negative Reactions↗
PubMed1985

Fetal intracranial teratoma: US diagnosis of three cases and a review of the literature.

We describe three cases of fetal intracranial teratoma diagnosed by ultrasound and review the literature. Sonographic features include cranial enlargement, gross distortion of normal cerebral architecture by a hyperechoic, multicystic mass, and polyhydramnios. Despite early diagnosis, the cesarean section rate is high and the overall prognosis is dismal.

Adult↗
PubMed1987

Twin gestations: monitoring of complications and anomalies with US.

An evaluation of 227 consecutive twin gestations was undertaken to assess the role of ultrasound (US) in the diagnosis of major obstetric complications and congenital anomalies. US accurately depicted the growth and development of fetuses in 65 patients with underlying maternal disorders that produced additional risks to the pregnancy. Complications such as malpresentations (104 cases), polyhydramnios (15 cases), oligohydramnios (five cases), and uterine myomas (seven of 11 cases) were demonstrated prenatally with US. Fetal anomalies included anencephaly (two cases), hydrocephalus (two cases), conjoined twins (three cases), twin-twin transfusion syndrome (five cases), and acardiac monsters (two cases). Demise of one twin in 20 gestations and demise of both twins in 18 gestations (overall mortality of 17%) were correctly identified with US. These 38 gestations included intrauterine demise in 12, spontaneous abortion in 13, and neonatal deaths in 13. Therefore, when multiple gestations are suspected clinically, serial real-time US scans should be obtained beginning in the first trimester.

Adolescent↗
PubMed1989

Fetal and funicular vascular anomalies: identification with prenatal US.

Vascular anomalies of the umbilical cord and fetus were evaluated with ultrasound in 11 fetuses. The anomalies included true knot of the cord (n = 1), umbilical vein varix (n = 1), persistent right umbilical vein (n = 1), and unilateral hypertrophy of the iliac artery in cases of a single umbilical artery (n = 8). One fetus with a single umbilical artery had a meningocele, hydrocephalus, and polyhydramnios; another had mitral atresia. The other fetuses were healthy except for the vascular abnormalities. A previously unreported finding in the identification of a single umbilical artery is described.

Congenital Abnormalities↗
PubMed2005

Effects of 7-day amino acid infusion on renal growth, function, and renin-angiotensin system in fetal sheep.

These experiments examined whether renal growth and the fetal renin-angiotensin system could be stimulated by infusion of amino acids and whether chronic amino acid infusions restored glomerulotubular balance, which had been disrupted during 4-h infusions. Five fetal sheep aged 122 +/- 1 days gestation received an infusion of alanine, glycine, proline and serine in 0.15 M saline at 0.22 mmol/min for 7 days. Six control fetuses were given saline at the same rate (5 ml/h). Kidney wet weights after amino acid infusion were 28% larger than control fetuses (P < 0.05), and renal angiotensinogen mRNA levels were approximately 2.6-fold higher (P < 0.005). Circulating renin levels and renal renin mRNA levels were suppressed (P < 0.05), and renal renin protein levels tended to be lower. Arterial pressure was increased, and there was a marked, sustained natriuresis and diuresis. Glomerular filtration rate and filtered sodium were approximately two-fold higher throughout infusion (P < 0.05). Fractional proximal sodium reabsorption, suppressed at 4 h (from 73.4 +/- 6.5 to 53.7 +/- 10.2%), did not return to control levels (36.1 +/- 3.4% on day 7, P < 0.05). Distal sodium reabsorption was markedly increased (from 79 +/- 25 to 261 +/- 75 mumol/min by day 7, P < 0.005), but this was not sufficient to restore glomerulotubular balance. The resultant high rates of sodium excretion led to hyponatremia and polyhydramnios. In conclusion, long-term amino acid infusions increased renal angiotensinogen gene expression, kidney weight, and distal nephron sodium reabsorptive capacity but failed to restore proximal and total glomerulotubular balance.

Amino Acids↗
PubMed1991

Fetal fluid responses to long-term 5 M NaCl infusion: where does all the salt go?

The fetus must obtain Na and Cl ions in order to grow. However, the regulation of electrolyte acquisition by the fetus is not well understood. To explore fetal electrolyte balance, we intravenously infused 5 M NaCl at a rate equal to 80% of the total fetal body Na+ and Cl- content per day (240 mM/day) for 3 days into late-gestation fetal sheep. We hypothesized that the increase in fetal osmolality resulting from the infusion would cause a transplacental water movement into the fetal compartment, leading to hydrops fetalis and/or polyhydramnios. The fetal-to-maternal osmotic gradient was initially -2.8 +/- 0.9 (SE) mosmol/kgH2O and rose by 4.8 +/- 1.8 mosmol/kgH2O during the infusion. Fetal plasma [Na+] and [Cl-] increased (3.0 +/- 0.4 and 5.5 +/- 0.5 meq/l, respectively), but the normal maternal-to-fetal transplacental concentration gradients for these ions were not reversed. Most of the infused Na+ (92 +/- 14%) and Cl- (82 +/- 12%) was excreted by the fetus in large volumes of hypotonic urine. Amniotic fluid osmolality and [Na+] were unchanged, but amniotic [Cl-] increased 5.7 +/- 2.4 meq/l. The amniotic plus allantoic fluid volume, as estimated by ultrasonography, was increased (43.5 +/- 14.5%) at day 2 and returned to control by day 3 of infusion. There was no fetal edema during the study or at autopsy. In light of these results, we propose a novel and somewhat complex mechanism for transplacental fluid and electrolyte movement in which placental capillary permeability increases along the length of the capillary.(ABSTRACT TRUNCATED AT 250 WORDS)

Amniotic Fluid↗
PubMed1999

Regulatory response of intramembranous absorption of amniotic fluid to infusion of exogenous fluid in sheep.

Six fetal sheep were operated on at 118 to 121 days of gestation. The pulmonary end of the trachea was connected to the gastric end of the esophagus with a section of tubing. This left urine as the only source of amniotic fluid and intramembranous absorption as sole exit. Multiple indwelling fetal vascular, intra-amniotic, allantoic, and a fetal bladder catheter were placed. Beginning 5 days after surgery, all urine was drained from the bladder and immediately reinfused into the amniotic sac to monitor urine production rate. After 4 days of urine infusion alone, the urine infusion was augmented for 6 days with an intra-amniotic infusion of Ringer solution. Amniotic and allantoic fluid volumes were measured at autopsy. During the period of Ringer infusion, intramembranous absorption of amniotic fluid increased by more than 1,191 +/- 186 (SE) ml/day (P < 0.002) and the rates of Na(+) and Cl(-) absorption increased to more than five times (P < 0.005) and eight times (P < 0.005) their initial values. Only one of six fetuses had polyhydramnios. It is concluded that intramembranous absorption of amniotic fluid makes a strong regulatory adjustment in response to an abnormal increase in inflow of exogenous fluid.

Absorption↗
PubMed2001

Amniotic fluid and hemodynamic model in monochorionic twin pregnancies and twin-twin transfusion syndrome.

We developed a mathematical model of monochorionic twin pregnancies and twin-twin transfusion syndrome (TTTS), combining both fetal fluid dynamics and fetoplacental growth and circulation alterations and assuming that transplacental fluid flow from mother to fetus accounts for normal fetal and amniotic fluid volumes. Ten coupled differential equations, describing fetal total body and amniotic fluid volumes, their osmolalities, and fetal blood colloid osmotic pressure, for both donor and recipient twins, were solved numerically. Amniotic flows are controlled by fetal plasma osmolality and hydrostatic and colloid osmotic pressures. We included varying placental anastomoses and placental sharing of the circulations. Consistent with clinical experience, model predictions are: fetofetal transfusion from unidirectional arteriovenous anastomoses cause oligo-polyhydramnios, a normal size recipient but hypovolemic donor; compensating oppositely directed deep and superficial anastomoses moderate discordant development; and anhydramnios results from mild and severe TTTS, where milder forms may even present earlier in gestation than severe TTTS. Unequal placental circulatory sharing may exacerbate discordant development. In conclusion, our model simulates a wide variety of realistic manifestations of amniotic fluid volume and fetal growth in TTTS related to placental angioarchitecture. The model may allow an assessment of the efficacy of current therapeutic interventions for TTTS.

Amniotic Fluid↗
PubMed1998

Pregnancy in women on chronic dialysis. A single-center experience with 17 cases.

Successful pregnancy outcome is an uncommon occurrence in women requiring chronic dialytic treatment, and the most adequate dialysis therapy in the management of these pregnant patients has not been established. During the period 1988-1995, we studied the outcome of 17 pregnancies in dialyzed females, with an average age of 28.2 +/- 5.9 years (range: 18-38 years). Seven women had adequate urine volume (>800 ml/24 h). Five patients started dialysis after conception and the remaining 12 pregnancies were diagnosed after 6-72 months on dialysis. Fourteen women were maintained on hemodialysis (HD) and 3 on continuous ambulatory peritoneal dialysis (CAPD). The HD schedule was increased to 3 h 5-6 times weekly, and CAPD was increased to six 2-liter exchanges/day. Mean serum urea was 78.6 +/- 27.4 mg/dl (range 45-110); serum creatinine was 6.5 +/- 3.7 mg/dl (3.3-9.8 mg/dl); and hematocrit was 28.9 +/- 3.3 vol% (22-35 vol%). Anemia was partially controlled with rHuEpo in 8 patients. Significant problems were polyhydramnios in 7 cases (5 HD/2 CAPD), oligohydramnios in 1 (HD), gestational diabetes in 2 (CAPD), premature labor with spontaneous abortion at the 19th, 22nd and 28th weeks of gestation (2 HD/1 CAPD), hypertension in 8 (7 HD/1 CAPD), and sterile eosinophilic peritonitis in 1 case (CAPD). Mean gestational age at delivery in 14 successful pregnancies (12 HD/2 CAPD) was 32.3 +/- 2.6 weeks (27-36 weeks) and mean baby weight was 1,400.7 +/- 579.1 g (range 720-2,650 g). No congenital fetal abnormality was observed. Respiratory distress was observed in 6 infants, with 2 deaths (1 HD/1 CAPD) in the first week after delivery. In this study, successful pregnancies were reported in 70.6% of dialyzed women with uremia, with hemodialysis having a rate of fetal survival of 78.6% and CAPD with 33.3%.

Adolescent↗
PubMedDate not supplied

Intrauterine treatment of fetal goitrous hypothyroidism controlled by determination of thyroid-stimulating hormone in fetal serum. A case report and review of the literature.

We report a rare case of fetal goitrous hypothyroidism complicated by polyhydramnios and preterm labor in a mother without thyroid gland pathology. The diagnosis was made in the 26th week by ultrasound and cordocentesis [TSH 170 microU/ml, free T(4) 0.2 ng/dl]. The therapeutic regime required repeated fetal blood sampling for determination of thyroid hormones. Five intra-amniotic administrations of 250 microg levothyroxine (LT4) weekly were initiated. Because of the persisting goiter and the elevated level of TSH (128 microU/ml in 32 weeks) in the fetal serum the dosage had to be adjusted to 500 microg LT4 in the next five injections. TSH in fetal serum declined to 49.2 microU/ml in 36 weeks. Normal fetal growth and an uncomplicated course of pregnancy between the 27th and 37th week of gestation were observed. Monitoring of intrauterine therapy by determination of TSH in fetal serum may provide more reliable data than measuring TSH in amniotic fluid. A review of 15 cases of fetal goitrous hypothyroidism in the English literature is presented.

Adult↗
PubMedDate not supplied

A rare case of non-immune hydrops fetalis: double-chambered right ventricle. A case report.

A double-chambered right ventricle was diagnosed prenatally by ultrasound examination in a case of fetal hydrops and polyhydramnios. Delivery was induced at the 28th week. 2D echocardiography of the newborn confirmed the intrauterine diagnosis. To our knowledge, this is the first reported case of prenatally diagnosed divided right ventricle, causing hydrops.

Adult↗
PubMedDate not supplied

Intrafetal alcohol chemosclerosis of acardiac twins: a multicenter experience.

OBJECTIVE: To report a multicenter experience with intrafetal alcohol chemosclerosis in the treatment of pregnancies complicated with the twin reversed arterial perfusion sequence. METHODS: Percutaneous injection of 1- 2 ml of absolute alcohol into the intra-abdominal segment of the single umbilical artery was performed in 8 acardiac twins. Cases were collected from 5 centers following a standardized protocol. The procedure was performed under continuous ultrasound control, using color Doppler ultrasound to identify the main arterial vessel entering the abdomen of the acardiac twin and passing a 20-gauge spinal needle into the targeted vessel. Intraoperative and short-term complications were noted. Information on pregnancy outcome was obtained by reviewing the medical records or contacting the referring obstetrician. RESULT: At the time of the procedure, the acardiac twin was severely hydropic and the size exceeded 70% of the size of the pump twin in all cases. In addition, there were associated complications in all the pump twins including polyhydramnios in 8 cases (100%), cardiac insufficiency in 5 (63%), and fetal growth restriction in 1 (13%). The procedure was performed at a mean gestational age of 24.7 weeks (range 20-32), and it was technically successful in all cases. However, it was complicated with thrombosis of the umbilical vessels of the pump twin in 1 case, and transient bradycardia in 2 others. These 3 pump twins died in utero as a result of the procedure. The other 5 procedures were technically and clinically successful, resulting in an overall survival rate of 63%. In 4 pregnancies, the pump twin was delivered after 35 weeks and had no neonatal complications. CONCLUSIONS: Intrafetal alcohol chemosclerosis is a simple procedure that can be performed in any fetal medicine center around the world to stop the vascular supply to acardiac twins. However, the main concern with this technique is intravascular transfer of the ablative material to the circulation of the pump twin. The use of this technique should therefore be restricted to those pregnancies with poor prognostic factors and in countries where more sophisticated methods for the treatment of this condition are not available.

Diseases in Twins↗
PubMedDate not supplied

Elevated second-trimester free beta-hCG as an isolated finding and pregnancy outcomes.

OBJECTIVE: To investigate the relationship between unexplained elevated second-trimester free beta-human chorionic gonadotropin (beta-hCG) levels and pregnancy complications as well as adverse pregnancy outcomes. METHODS: The study cohort comprised 2,110 non-smoking women with chromosomal and structurally normal fetuses at low-risk for both Down's syndrome (risk <1:250) and neural tube defects (maternal serum alpha-fetoprotein <2.0 MoM). A free beta-hCG value of > or =2.0 MoM was used to define the populations with elevated levels of free beta-hCG. Descriptive statistics, chi2 test, Fisher's exact test, and logistic regression analysis were used for statistical analysis, and p < 0.05 was considered statistically significant. RESULTS: The mean maternal age of the study group was significantly lower than in controls (27.9 +/- 4.3 and 30.6 +/- 5.1 years, respectively, p < 0.05), while the proportion of primigravidas was significantly higher compared to that of controls (p < 0.05). After adjustment of the 2 groups according to maternal age and parity, we observed an increased incidence of preeclampsia among women with elevated free beta-hCG levels in relation to controls (p < 0.05). However, a logistic regression analysis demonstrated that the free beta-hCG level was not a predictor of the occurrence of preeclampsia. No significant relationship was found with the incidence of gestational diabetes, oligohydramnios, polyhydramnios, pregnancy-related hypertension, intrauterine growth retardation, preterm delivery, spontaneous abortion and stillbirths (p > 0.05).

Biomarkers↗