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PubMed2004

Outcome predictors for infants with cystic lung disease.

BACKGROUND/PURPOSE: This study aimed at identifying characteristic features indicating congenital cystic adenomatoid malformation of the lung (CCAM) and evaluating the outcome predictors to identify prenatally subgroups of fetuses with significantly different probabilities of mortality or severe respiratory difficulty. METHODS: Twenty-eight neonates who had undergone antenatal evaluation for cystic lung disease (CLD) were reviewed retrospectively. The patients were divided into 3 groups according to the severity of their clinical course; mild (n = 7), moderate (n = 13), and severe (n = 8). Ultrasonographic findings in the fetus and their pulmonary lesion were evaluated. The normal lung to thorax transverse area ratio (L/T) was measured by ultrasonography. RESULTS: High echogenicity of the lesion throughout pregnancy and polyhydramnios were frequently seen in CCAM. All of the patients with other CLD showed isoechogenicity at the end of pregnancy. All patients in the severe group had both polyhydramnios and fetal hydrops. L/T was increased in mild and moderate groups, whereas no patient in the severe group had an increase in L/T at the final measurement. Each value of final L/T in the severe group was less than 0.25. CONCLUSIONS: The subgroup of fetuses with an increased probability of mortality or severe respiratory difficulty could be predicted from the combination of polyhydramnios, fetal hydrops, and a final L/T value of less than 0.25.

Bronchi↗
PubMed1985

Theoretical effects of amniotic fluid volume changes on surfactant concentration measurements.

A baseline model for consideration of the theoretical effects of amniotic fluid volume changes on surfactant concentration measurements has been constructed. The baseline data include: a polynomial equation that best fits experimental data comparing amniotic fluid lecithin concentration measurements to gestational age, inflow of 0.450 L of surfactant-poor fluid into the amniotic fluid per day, outflow of 0.450 L of surfactant-rich fluid per day, and volume of 1.0 L of amniotic fluid between 30 to 31 and 38 to 39 weeks' gestation. With this model the incremental amounts of lecithin necessary to achieve the concentration levels derived from the polynomial equation have been calculated. The quantity of lecithin needed was calculated at intervals of 0.1 day for 56 days. Polyhydramnios and oligohydramnios were then allowed to develop hypothetically by modifying the inflow or outflow of fluid while keeping the quantity of lecithin added exactly the same as was determined from the baseline data. Chronic polyhydramnios or oligohydramnios had minimal effects on the concentration measurements. The effects of acute polyhydramnios (or oligohydramnios) were greater when the change in volume was due to an increased (or decreased) volume of inflow as compared to a decreased (or increased) volume of outflow.

Acute Disease↗
PubMed1997

Ultrasonographic assessment of amniotic fluid does not reflect actual amniotic fluid volume.

OBJECTIVE: Our objective was to compare the ability of two methods of amniotic fluid assessment (two-diameter amniotic fluid pocket versus the amniotic fluid index) to predict oligohydramnios (actual amniotic fluid volume < 500 ml) or polyhydramnios (actual amniotic fluid volume > 1500 ml). STUDY DESIGN: The amniotic fluid index and the two-diameter amniotic fluid pocket were assessed before amniocentesis and determination of amniotic fluid volume with the dye (aminohippurate sodium)-dilution technique. To assess the detection of either oligohydramnios or polyhydramnios, the areas under the receiver-operator characteristic curves (+/-SE) were estimated by the point-to-point trapezoidal method of integration. Prediction limits were calculated by regression analysis of amniotic fluid index or two-diameter amniotic fluid pocket versus actual amniotic fluid volume and determination of 95th percentile ranges for amniotic fluid volume. RESULTS: We studied 144 patients with a mean (+/-SD) gestational age of 31.7 +/- 5.5 weeks; mean (+/-SD) amniotic fluid index and two-diameter amniotic fluid pocket were 12.6 +/- 6.1 cm and 21.2 +/- 18.4 cm2, respectively. Mean (+/-SD) actual amniotic fluid volume was 722 +/- 735 ml (range 101 to 4318 ml). The areas under the four receiver-operator characteristic curves were not significantly different from the nondiagnostic line (p < 0.05). Regression slopes (r values) for amniotic fluid index and two-diameter amniotic fluid pocket versus actual amniotic fluid volume were 0.34 and 0.23, respectively. Calculation of the prediction limit for 95% confidence that oligohydramnios is absent requires that the amniotic fluid index be 30 cm and the two-dimension amniotic fluid pocket be 90 cm2, both thresholds of which are currently considered to represent clinical polyhdramnios. CONCLUSIONS: Both amniotic fluid index and two-dimension amniotic fluid pocket appear to be inaccurate predictors of actual oligohydramnios or polyhydramnios when compared with dye-dilution calculations of actual amniotic fluid volume.

Adult↗
PubMed2001

In vitro placental pressure-flow behaviour is non-linear and depends on the external pressure.

OBJECTIVE: To study pressure-flow behaviour of in vitro placentas under normal simulated conditions and during raised external pressures, to simulate in vivo placental hemodynamic function, and as a model for polyhydramnios and the supine hypotension syndrome. DESIGN: Eleven normal term human singleton in vitro placentas were perfused under optimal physiologic conditions. Perfusion pressures varied between 5 and 90 mmHg, external pressures between 4 and 30 mmHg. Venous-external pressure (mmHg) combinations included 10-4, 10-10, 20-20, 25-25, 30-30 and 10-20. RESULTS: Pressure-flow curves varied markedly among the 11 placentas, but all showed a non-linear, perfusion pressure-dependent resistance. The in vitro placental resistances were significantly higher than estimated in vivo values. All placentas showed inevitable leakage at the maternal side due to damage during delivery. Increased external pressures increased the placental resistance at lower perfusion pressures. CONCLUSION: Placental damage reduces the number of perfused cotyledonic capillaries. This increases the placental resistance but preserves circulatory properties. Our findings therefore, represent in vivo placental function. They may explain why polyhydramnios often persists and that polyhydramnios and the supine hypotension syndrome are likely to be more detrimental in hypotensive than in normotensive or hypertensive fetuses.

Adult↗
PubMed1998

Pregnancy outcomes among women with and without diabetic microvascular disease (White's classes B to FR) versus non-diabetic controls.

The objective of this paper is to evaluate the impact of contemporary management on the maternal and neonatal outcomes of pregnancies complicated by diabetes in women with microvascular disease versus women without microvascular disease. The study population consisted of two hundred and eighty-eight (288) pregnant women with pregestational diabetes and one hundred and fifty (150) healthy pregnant controls. Diabetic women were grouped according to the presence (n = 103) or absence of diabetic microvascular disease (n = 185). Data were collected regarding diabetes management, level of glycemic control, and the development of antenatal complications. Maternal and neonatal outcomes were compared among the three groups. Women in the diabetes groups were stratified according to mean blood glucose levels and glycosylated hemoglobin during each trimester. There was no significant difference found between the two diabetes groups in terms of preterm labor, polyhydramnios, pyelonephritis, and growth restriction. The only maternal complications that occurred with increased incidence among women with microvascular disease were acute hypertensive complications (51.6 vs. 32.9%; p<0.05). However, when the diabetes groups were compared to healthy controls, a significant difference was seen in all maternal and neonatal complications. Preterm delivery, polyhydramnios, and large-for-gestational-age (LGA) infants were associated with poor third-trimester metabolic control as compared with others in satisfactory metabolic controls: 30.8 vs. 11.4% for preterm delivery; 17.3 vs. 5.1% for polyhydramnios; 51.9 vs. 33.9% for LGA; p<0.05. Congenital malformations were associated with poor first-trimester glucose control (5.8 vs. 1.3% anomalies in well-controlled women). Furthermore, major congenital malformations were also significantly increased in the offspring of women with diabetic microvascular disease 6.8%, as compared to 1.69% in diabetic women without microvascular disease; p<0.01. The incidence of hypertensive complications did not differ between the two diabetic groups. Pregestational diabetic women with and without microvascular disease can be counseled to anticipate comparably favorable pregnancy outcomes, although maternal and neonatal complications may exceed that experienced by pregnant women without diabetes mellitus.

Adult↗
PubMed1997

Isolated ductal closure in utero diagnosed by fetal echocardiography.

In utero isolated ductal closure is uncommon and can lead to fetal hydrops and death if not recognized. Five fetuses were diagnosed prenatally by echocardiography. The reasons for referral were hydrops (2), cardiomegaly (1), polyhydramnios and choroid plexus cyst (1), and polyhydramnios and teratoma of the neck (1). Gestational age was median 32, range 18-41 weeks. Two mothers received indomethacin for polyhydramnios, with the echocardiogram performed 5 and 3 days after the last dose. Three had a negative history of drug ingestion. Fetal echocardiograms showed absent flow in the ductus arteriosus, dilated right ventricle with decreased function, and mild or moderate tricuspid and pulmonary insufficiency in all. The left ventricle was hypercontractile, with significantly increased left ventricular stroke output when compared to the right. Four fetuses were delivered by cesarean section and had an uneventful course. One fetus died shortly after birth due to airway obstruction from a large teratoma. Autopsy showed ductal constriction. Postnatal echocardiograms showed absent ductal flow and dilated right ventricle. On follow-up, survivors remained asymptomatic with cardiac size returning to normal. Premature closure of the ductus arteriosus should be considered in hydrops of unknown etiology, right ventricular dysfunction, and following indomethacin therapy. Urgent delivery results in an excellent prognosis.

Adult↗
PubMed1991

Prenatal diagnosis of tetralogy of Fallot with absent pulmonary valve.

Multiple indications for fetal echocardiography have been proposed that includes polyhydramnios. In this report, the prenatal diagnosis of tetralogy of Fallot with absent pulmonary valve and absent ductus arteriosus was made in a patient presenting with polyhydramnios. Tracheobronchial and esophageal compression secondary to gross dilation of the pulmonary artery is considered the etiology of the polyhydramnios, and in the case of this structural defect is an indicator of poor prognosis.

Adult↗
PubMed2006

Fetal gender and gestational-age-related incidence of pre-eclampsia.

BACKGROUND: Male fetal gender is associated with an overall increased risk of pre-eclampsia. However, it was recently shown that the male: female birth ratio was decreased in pre-eclampsia associated with preterm delivery. The reason for this discrepancy is not known. OBJECTIVE: To investigate whether the fetal and newborn gender is associated with the incidence of antenatal maternal pregnancy complications, and to investigate if gender-associated risk changes with gestational age at delivery. METHODS: Population-based study including 1,158,276 infants born in Sweden 1990-2001. Five maternal diagnosis groups (pre-eclampsia, infection, preterm premature rupture of membranes, abruptio placentae, and polyhydramnios) were explored in relation to newborn infant gender and gestational age at delivery. RESULTS: When all gestational ages were evaluated, male newborn gender was associated with increased odds ratios for all five diagnosis groups, and for preterm birth before 37 weeks gestation, M/F ratio 1.17. In very preterm births (gestational age below 32 weeks), male newborn gender was associated with a significantly lower risk for pre-eclampsia (OR 0.88, 95%CI 0.80-0.97), and a marginally lower risk for polyhydramnios (OR 0.74, 95%CI 0.54-1.01). CONCLUSION: The fetal gender seems to affect the occurrence of pre-eclampsia, and possibly also polyhydramnios. The finding could be due to an increased risk for spontaneous abortions in pregnancies with male fetuses, but could also be associated with the etiology of these conditions. Evaluation of antenatal pregnancy complications from a fetal/newborn gender perspective may contribute to new insights regarding their pathophysiological mechanisms.

Age Factors↗
PubMed1995

Severe twin-twin transfusion syndrome: current management concepts.

The presence of functioning vascular anastomoses within the monochorionic placentation of a monozygotic twin pregnancy is responsible for the twin-twin transfusion syndrome. This is a heterogeneous disorder with a wide spectrum of severity. In the most severe form it results in the oligohydramnios-polyhydramnios sequence with a marked disparity in intertwin biometry and amniotic fluid volume. Without therapy, the perinatal mortality of severe twin-twin transfusion syndrome is 60-100%. Several therapeutic interventions have been attempted with therapeutic amniocentesis producing the most consistent improvement in fetal survival rates. The outcome of 10 cases of severe twin-twin transfusion syndrome, presenting as the oligohydramnios-polyhydramnios sequence, is presented. Gestational age at presentation ranged from 20-34 weeks. Three fetuses were hydropic at initial presentation and of these only 1 survived. All cases were treated with serial aggressive therapeutic amniocentesis, the number of procedures ranging from 1-9/patient. The volume of amniotic fluid removed ranged from 3,200-14,000 mL. Gestation was prolonged a mean of 46 days (range 1-106 days). The perinatal survival rate was 65% (13/20 infants). Preterm premature rupture of membranes and secondary preterm birth complicated 1 pregnancy treated with therapeutic amniocentesis. Short-term morbidity in the liveborn infants was predominantly secondary to prematurity and renal cortical necrosis. Severe twin-twin transfusion syndrome is the most common aetiology of the oligohydramnios-polyhydramnios sequence. Therapeutic amniocentesis offers an intervention that may reduce the high perinatal loss rate previously observed with this disorder.

Adult↗
PubMedDate not supplied

Plasma atrial natriuretic peptide in fetuses with cardiac disease.

OBJECTIVE: To investigate atrial natriuretic peptide (ANP) levels in fetuses with cardiac defects and to evaluate the relationships between plasma ANP levels and the presence of polyhydramnios. METHODS: Plasma ANP levels were measured by radioimmunoassay in 27 fetuses with cardiac abnormalities and in 14 normal healthy fetuses. RESULTS: Fetal plasma ANP levels were similar in the two studied groups (p = 0.18) but they were significantly higher in a subset of cases with cardiac disease and polyhydramnios (n = 7) than in those with cardiac disease and normal amniotic fluid (n = 20; p = 0.036) and controls (p = 0.01). CONCLUSION: Polyhydramnios in fetuses with heart conditions might be explained by increased fetal diuresis secondary to increased ANP production.

Atrial Natriuretic Factor↗
PubMed2000

[Prenatal diagnosis of congenital diaphragmatic hernia: evaluation of the prognosis].

OBJECTIVE: The aim of this study was to evaluate prognostic prenatal factors of congenital diaphragmatic hernia. MATERIAL AND METHODS: We designed a retrospective study of 34 patients with congenital diaphragmatic hernia. The infants were delivered at the Edouard Herriot Hospital between September 1, 1994 and June 30, 1998. We excluded cases of pregnancy termination. After eliminating 4 cases, we studied 30. The factors studied were: polyhydramnios, transverse abdominal diameter, hepatic and umbilical vein deviation, mediastinal deviation, intrathoracic location of the stomach. Prenatal karyotype and echocardiography were systematically obtained. RESULTS: Total perinatal mortality was 53% and was 48% in case of unique diaphragmatic hernia. Prognosis was poorer if the diaphragmatic hernia was associated with another malformation (perinatal mortality: 80%, 4/5 cases), or in case of preterm delivery (83%, 5/6 cases). Factors associated with poor prognosis were: polyhydramnios, transverse abdominal diameter below the 5(th) percentile and major hepatic deviation. Diagnosis before 25 weeks was not associated with poor prognosis. Intrathoracic stomach was a good diagnostic sign, but did not allow an assessment of prognosis. CONCLUSION: Diagnosis of congenital diaphragmatic hernia was made before 25 weeks in 77% of the cases. It was not a factor of poor prognosis. As other authors, we found that prenatal association with another malformation (especially cardiac malformation) polyhydramnios, deviation of the liver, and abdominal transverse diameter below the 5(th) percentile were factors of poor prognosis. But it was difficult to determine the prenatal prognosis. Improvement is needed.

Adult↗
PubMed2003

Abnormal amniotic fluid volume as a screening test prior to targeted ultrasound.

BACKGROUND: The purpose of this study was to examine (1) the association between amniotic fluid volume (AFV) and sonographically detected fetal structural anomalies, and (2) the effectiveness of using abnormal AFV as a screening test prior to patient referral for a targeted ultrasound. MATERIAL/METHODS: For singleton pregnancies in the 2nd and 3rd trimester frequencies of individual anomalies and odds ratios were calculated for each category of amniotic fluid volume relative to the frequency of anomalies with normal volume. The anomaly detection rate and frequency of referral for targeted ultrasound on the basis of abnormal amniotic fluid volume were calculated. RESULTS: 15,959 (92.0%) of patients had normal amniotic fluid volume, 537 (3.1%) decreased, 544 (3.1%) increased, 167 (1.0%) oligohydramnios, and 141 (0.8%) polyhydramnios. There were 365 (2.1%) fetuses with major structural anomalies. 1.8% of patients with normal AFV had anomalies. Anomalies were significantly more frequent in all categories of abnormal fluid: decreased (3.2%, OR 1.74, 95% CI 1.06-2.86), increased (5.7%, OR 3.22, 95% CI 2.2-4.71), oligohydramnios (9.0%, OR 5.26, 95% CI 3.09-9.05), and polyhydramnios (5.7%, OR 3.21, 95% CI 1.56-6.6). Referral for targeted ultrasound based on any abnormal AFV volume compared to only oligohydramnios or polyhydramnios increased the overall anomaly detection rate by nearly three-fold (19.5% vs. 6.3%), with minimal changes in the number of referrals per anomaly detected (13.4 vs. CONCLUSIONS: Referral for targeted ultrasound in the presence of even minor abnormalities of amniotic fluid would significantly improve anomaly detection with minimal increase in referrals.

Amniotic Fluid↗
PubMed1990

Amniotic pressure in disorders of amniotic fluid volume.

Amniotic pressure was measured in 49 pregnancies with abnormal quantities of amniotic fluid. Among 17 with polyhydramnios, the pressure was always above the normal mean for gestation and exceeded the upper limit of normal in nine. In polyhydramnios, amniotic pressure correlated positively with the depth of the deepest pool (r = 0.65, P = .04) and negatively with fetal PO2 (r = -0.57, P = .03) and pH (r = -0.56, P = .04). Amniotic pressure was raised in all those with a deepest pool of greater than 15 cm, and was normal in all with a deepest pool less than 15 cm. Amniotic pressure fell significantly with drainage of amniotic fluid in those with raised pressure (mean 12.7 mmHg, 95% confidence interval 7.0-18.3; P = .002) but not in those with normal pressure (mean 0.3, 95% confidence interval -3.2 to +3.9; P = .82). Restoration of normal amniotic pressure in one pregnancy was accompanied by marked improvement in fetal acid-base status. Among 24 pregnancies with severe oligohydramnios, amniotic pressure was always below the normal mean, falling below the lower limit of normal in eight; whereas in another eight pregnancies with mild/moderate oligohydramnios, amniotic pressure was scattered evenly within the normal range. Amnioinfusion of 55-500 mL of normal saline in cases of severe oligohydramnios led to a significant rise in pressure (4.7 mmHg, 95% confidence interval 3.5-5.9; P less than .0001). We conclude that amniotic pressure is high in polyhydramnios and low in oligohydramnios. Pressure monitoring may be beneficial during amnioinfusion and therapeutic amniocentesis.

Acid-Base Equilibrium↗
PubMed1983

[Amniotic fluid circulation with special reference to hydramnios].

The undisturbed circulation of amniotic fluid is the result of an intact cooperation between three compartments: maternal organism, fetus and amniotic cavity. Impairment of one of these compartments can produce a pathological increase of amniotic fluid. This is possible by animal experiment through the way of producing a hypoproteinemia in the maternal organism, comparable with the situation of maternal EPH-gestosis. By increasing the intraamnial osmotic pressure after injection of hyperosmotic solution it is also possible to produce polyhydramnios in the animal experiment. This is corresponding to the clinical situation in maternal diabetes mellitus. In studies of pregnant rabbits, the analysis of ultrastructure of the amniotic epithelium showed some alterations which are compatible with secretory activity of the yolk-sac. The epithelium of the yolk-sac is comparable with the human chorion. The amniotic epithelium has only a function as a semipermeable membrane for the diffusion of amniotic fluid. Morphological examinations of the human placenta and the amniotic sac showed an increase of placental weight in cases of polyhydramnios. There was no increase, however, of the placental surface. Disturbances of circulation in the placental villi were not seen more frequently than in a control group. In cases of polyhydramnios there were more disturbances of villous maturation. The analysis of ultrastructure of the amniotic epithelium and the surface of the umbilical cord showed some possible ways for the increase of amniotic fluid volume.

Amnion↗
PubMed1984

Decidual, amniotic fluid, maternal and fetal prolactin in normal and abnormal pregnancies.

In the present studies, the content and the in vitro production of prolactin by decidua as well as the concentrations of prolactin in amniotic fluid, maternal and fetal serum in normal term pregnancies, induced abortions at various gestational ages, and in pregnancies complicated by diabetes mellitus, preeclampsia, chronic hypertension, and polyhydramnios were measured. Maternal and fetal prolactin levels varied considerably throughout gestation, but at term did not differ significantly between normal and abnormal pregnancies. Prolactin levels in amniotic fluid as well as decidual prolactin content and production were significantly lower only in pregnancies complicated by either hypertension or polyhydramnios. In both normal and abnormal pregnancies, decidual prolactin production correlated strongly with amniotic fluid concentrations. The present data suggest that 1) maternal and fetal prolactin levels do not differ significantly between normal and abnormal pregnancies, 2) the decidua is the principal source of amniotic fluid prolactin, and 3) the significantly lower levels of prolactin in amniotic fluid of pregnancies complicated by hypertension or polyhydramnios are probably due to adverse effects of these conditions on the synthesis and release of prolactin by decidua.

Amniotic Fluid↗
PubMed1998

Twin pregnancy discordant for trisomy 14 mosaicism: prenatal sonographic findings.

The survival of infants with trisomy 14 mosaicism has been scarcely reported in the literature, with only 15 cases being documented up to 1992. We present a case of a dichorionic twin pregnancy in which prenatal sonography at 24 weeks' gestation showed that one of the twins had several anomalies including intrauterine growth restriction, alobar holoprosencephaly, a cleft lip and palate, a recessive chin, a small stomach, overlapping fingers, a ventricular septal defect, and polyhydramnios. Twin 2 was structurally normal. In view of the lethal condition and associated polyhydramnios affecting one of the twins, prenatal surveillance for signs of tense polyhydramnios and premature labour was undertaken. The pregnancy proceeded uneventfully until 37 weeks, at which time a Caesarean section was performed. At birth, neonatal blood from the abnormal twin confirmed trisomy 14 mosaicism in 12 per cent of lymphocytes. The infant died on day 36 of life.

Adult↗
PubMed2000

Noonan syndrome: a cryptic condition in early gestation.

Noonan syndrome is one of the most common of genetic syndromes and manifests at birth, yet it is usually diagnosed during childhood. Although prenatal diagnosis of Noonan syndrome is usually not possible, in a few cases the ultrasonographic findings suggested the diagnosis in utero. Reported sonographic clues include septated cystic hygroma, hydrothorax, polyhydramnios, and cardiac defects, such as pulmonic stenosis and hypertrophic cardiomyopathy. During a 6-year period, 46,224 live-born infants were delivered at the Chaim Sheba Medical Center. Seven newborn infants and four fetuses were found to have Noonan syndrome. One fetus showed transient nuchal translucency of 4 mm and bilateral neck cysts at the 13th gestational week. Both findings resolved spontaneously by the 18th gestational week, but during the third trimester this fetus developed hydrothorax, skin edema, and polyhydramnios. In the three other fetuses, first- and second-trimester ultrasonographic findings were normal, and the diagnosis of Noonan syndrome was suggested only during the third trimester. All three fetuses had polyhydramnios and skin edema. A cardiac malformation, hydrothorax, and a large head were present in one fetus. Sonographic facial findings were investigated. In all four fetuses posteriorly angulated, apparently low-set ears and depressed nasal bridge were identified. Wide nasal base was seen in two fetuses. In two fetuses, persistent opening of the fetal mouth was interpreted as fetal hypotonia. One fetus developed progressive postnatal hypertrophic cardiomyopathy and in one case, pulmonic stenosis became apparent at age 6 months. This small series suggests that Noonan syndrome has an evolving phenotype during in utero and postnatal life. Amelioration of early nuchal region findings and late onset of the more "typical" ultrasonographic changes may limit early prenatal detectability.

Adult↗
PubMed2001

Prenatal diagnosis and genetic analysis of type I and type II thanatophoric dysplasia.

Thanatophoric dysplasia (TD) is one of the most common neonatal lethal skeletal dysplasias. Prenatal sonographic and molecular genetic diagnoses of three cases of TD type I (TD1) and one case of TD type II (TD2) are presented here. Two fetuses of TD1 were characterized by polyhydramnios, macrocephaly, short limbs, a narrow thoracic cage and curved short femora, but without a cloverleaf skull at 27 and 31 weeks' gestation, respectively. The third fetus with TD1 was, however, not associated with macrocephaly, polyhydramnios, chest narrowing and severe femoral bowing on prenatal ultrasound at 18 weeks' gestation. The TD2 fetus was characterized by polyhydramnios, short limbs, a narrow thoracic cage, straight short femora, hydrocephalus and a cloverleaf skull at 24 weeks' gestation. Three-dimensional ultrasound was able to enhance the visualization of thickened, redundant skin folds and craniofacial and limb deformities associated with TD. Molecular analysis of the fibroblast growth factor receptor 3 (FGFR3) gene by restriction enzyme digestion analysis and direct sequencing using cultured amniotic fluid cells or cord blood cells revealed a missense mutation of 742C-->T (Arg248Cys) in all cases with TD1 and a missense mutation of 1948A-->G (Lys650Glu) in the case with TD2. The present report shows that adjunctive applications of molecular genetic analysis of the FGFR3 gene and three-dimensional ultrasound are useful for prenatal diagnosis of TD.

Adult↗