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PubMed1994

Prenatal ultrasonic diagnosis of obstructive bowel disease: a retrospective analysis.

Fetal obstructive bowel disease was diagnosed in 29 patients at 22-37 weeks (median 32 weeks) of gestation, seven (24 per cent) of whom also displayed other anomalies. Polyhydramnios was present in 20/29 cases (69 per cent). An abnormal karyotype existed in 7/29 cases (24 per cent), of which six were diagnosed prenatally (trisomy 21, n = 5; 69,XXX, n = 1) and one postnatally (trisomy 21). There was always an association with the ultrasonic 'double bubble' sign. Obstructive bowel disease was confirmed postnatally in 20/29 (69 per cent) cases, i.e., oesophageal atresia (n = 1), duodenal obstruction (n = 12), and small bowel obstruction (n = 7). Other anomalies existed in 6/29 (21 per cent) cases, i.e., multicystic kidney (n = 1) and multiple congenital anomalies (n = 5). The perinatal mortality rate was 35 per cent (7/20).

Adolescent↗
PubMed1995

The ultrasonic detection of an isolated craniosynostosis.

The prenatal detection of scaphocephaly, an isolated form of craniosynostosis, is presented. The diagnosis was made at 34 weeks of gestation in a woman with polyhydramnios. The ultrasound appearance and postnatal follow-up are presented.

Adult↗
PubMed2002

Pallister-Killian syndrome: difficulties of prenatal diagnosis.

The first prenatal diagnosis of Pallister-Killian syndrome (PKS) was reported by Gilgenkrantz et al. in1985. Since this report, about 60 prenatal cases have been reported but both sonographic and cytogenetic diagnoses remain difficult. Although ultrasound anomalies such as congenital diaphragmatic hernia, polyhydramnios and rhizomelic micromelia in association with fetal overgrowth are very suggestive of the syndrome, they are inconstant and they may even be absent. The mosaic distribution of the supernumerary isochromosome 12p greatly increases these difficulties. No prenatal cytogenetic technique is sensitive enough to ensure prenatal diagnosis and false-negative results have been described on fetal blood, chorionic villi and amniocentesis. We report here two prenatal cases of PKS which illustrate the great variability of the fetal phenotype. In reviewing the 63 reported cases, we attempt to determine ultrasound indicators of the syndrome and to define a cytogenetic strategy. In cases where ultrasound indicators are present, our proposal is first to perform chorionic villus or placental sampling and then amniocentesis when the first cytogenetic result is normal. Fetal blood sampling is the least indicated method because of the low frequency of the isochromosome in lymphocytes. In this cytogenetic strategy, fluorescent in situ hybridization (FISH) and especially interphase FISH on non-cultured cells increases the probability or identifying the isochromosome. A misdiagnosis remains possible when ultrasound is not contributory; the identification of new discriminating ultrasound indicators would be very helpful in this context.

Abnormalities, Multiple↗
PubMed2002

Prenatal identification of esophageal atresia: the role of ultrasonography for evaluation of functional anatomy.

OBJECTIVE: To suggest a new ultrasonographic approach for prenatal diagnosis of esophageal atresia (EA). METHODS: Since 1995, whenever EA is suspected, we perform a systematic multiplanar ultrasonographic scanning of the fetal upper body in order to demonstrate an esophageal pouch. This includes three image plans of the neck and upper chest: coronal, sagittal and axial views in the cephalic direction. The scan time is 20-30 min. RESULTS: Twenty-five pregnant patients were referred during the period under study for prenatal examinations due to polyhydramnios and/or absent or small stomach. In six fetuses an esophageal pouch was demonstrated at ultrasonography in utero, thus a definitive diagnosis of EA was obtained. All six were confirmed with EA postpartum. In 19 fetuses an esophageal pouch was not demonstrated and all delivered normal neonates. During the same period two additional newborns, who were not included in the referred patients because amniotic fluid volume and stomach size were normal, were diagnosed postpartum with EA. The earliest gestational age of pouch visualization was at 23 weeks. The sagittal view was the best for visualizing a low-level pouch, and the coronal view was optimal for revealing a high pouch. CONCLUSIONS: Our three-sectional view of the neck and upper chest is useful for in utero detection of esophageal pouch that may enhance the prenatal diagnosis of EA. The positive predictive value for prenatal ultrasound for detecting EA is 100% with a sensitivity of 80%.

Esophageal Atresia↗
PubMed2003

Congenital diaphragmatic hernia: an evaluation of the prognostic value of the lung-to-head ratio and other prenatal parameters.

OBJECTIVES: A retrospective analysis of the prognostic significance of the lung-to-head ratio (LHR) and other prenatal parameters on the outcome of fetuses with left-sided congenital diaphragmatic hernia (CDH). METHODS: A total of 26 fetuses with isolated left CDH without chromosomal abnormalities were included. Twenty-one LHR measurements could retrospectively be calculated from the last available ultrasonographic recordings before birth. The relationship between LHR and fetal outcome and the gestational age dependency of this relation was tested. Cutoff levels as previously published were applied to determine their predictive value in this population. The association between other prenatal predictive variables and fetal outcome was also determined. Survival was defined as discharge from the hospital. RESULTS: The overall survival rate was 50%. There was a statistically significant difference between the mean LHR of the survivors compared to the mean LHR of the nonsurvivors (1.78 vs 1.02), whereas the mean gestational age of these two groups did not differ. LHR was not gestational age dependent in the prediction of fetal outcome. The cutoff levels LHR <1, 1-1.4, >1.4 showed a good applicability in the prediction of fetal outcome within the present study population with a 100% survival if LHR >1.4 and a 100% mortality if LHR <1. An intrathoracic position of the stomach, mediastinal shift, polyhydramnios as individual variables and early diagnosis (<25 weeks' gestation) revealed to be poor sonographic predictors for fetal outcome. CONCLUSION: LHR proved to be a good predictor for fetal outcome, independent of gestational age at the time of the measurement. To substantiate our observation, a prospective multicenter study is warranted.

Biometry↗
PubMed1986

Pulmonary hypoplasia in chondrodystrophic mice.

Lungs of day-18 fetal mice with hereditary chondrodysplasia (cho) were examined histologically and biochemically for pulmonary hypoplasia. Compared with normal littermate controls, the mutant's lungs were smaller by 37 (wet weight) and 22% (dry weight). Total DNA and protein per whole lung were decreased by 13 and 19%, respectively. The significantly smaller-than-normal terminal sacs observed in histological sections of the mutant's lungs corresponded with the greater difference (37%) in lung wet weight. The developmental mechanism for this disorder was further explored by examining the volumes of thoracic cavity and amniotic fluid. The volume of the thoracic cavity of newborn mutants was less than half that of controls, suggesting that the pathogenetic mechanism for the hypoplastic lungs in chondrodysplastic mice includes thoracic dystrophy. Measurement of the amniotic fluid volume revealed polyhydramnios in the mutant, thereby ruling out oligohydramnios as a mechanism. The relevance of this study to human pulmonary hypoplasia in short-limb chondrodystrophy is discussed.

Animals↗
PubMed2006

Maternal hemodynamic changes following treatment by laser coagulation of placental vascular anastomoses and amnioreduction in twin-to-twin transfusion syndrome.

OBJECTIVES: To investigate maternal hemodynamic changes following laser therapy and amnioreduction in twin-to-twin transfusion syndrome (TTTS). METHODS: Thirty-nine cases with severe TTTS were treated at 16-26 weeks of gestation. Maternal hemodynamic evaluation was performed, including heart rate (HR), arterial pressure and echocardiography with calculation of shortening fraction (SF), left atrial dimensions, stroke volume (SV), cardiac output (CO) and total vascular resistance (TVR), before and 6 h and 24 h after placental surgery. Hemoglobin (Hb), hematocrit (Ht) and protein levels were also measured. Cases were retrospectively divided into groups according to treatment: Group A had laser therapy followed by amnioreduction >1000 mL (n = 25); Group B had laser therapy followed by amnioreduction <1000 mL (n = 14). RESULTS: The mean gestational age at inclusion was 21 (range, 16-26) weeks. The mean amniotic fluid withdrawal was 1700 (range, 1000-3000) and 300 (range, 150-800) mL in Groups A and B, respectively. Cases in Group A showed a decrease in mean arterial blood pressure (P = 0.011) and in TVR (P < 0.0001) and an increase in CO (P = 0.008) and SV (P = 0.022). There was no difference in HR. Significant hemodilution developed as early as 6 h after the procedure, with a reduction in Ht (P < 0.0001), plasma protein (P < 0.0001) and Hb levels of 1.2 g/dL on average (P < 0.0001). There were no changes in any parameters in Group B. CONCLUSIONS: Amnioreduction of severe polyhydramnios in TTTS induces maternal hemodynamic changes within the first 6 h that persist at least 24 h after treatment. These adaptative changes are compatible with hemodilution.

Adult↗
PubMed2003

Obstetric aspects of the Prader-Willi syndrome.

The Prader-Willi syndrome (PWS) is a complex, multisystem disorder. The syndrome affects the central nervous system, with a predilection for the hypothalamus. The clinical picture in PWS is very variable, and depends on the age of the affected child. Frequently, the most prominent features such as obesity, mental retardation and behavioral disorders do not become evident until the later childhood stage, which can lead to underdiagnosis or late diagnosis in early childhood. Because of the long-term implications of this syndrome, it is important to recognize its features as soon as possible so that early counseling of parents and the affected child is possible. Because PWS can also lead to complications in both pregnancy and labor, proper diagnosis in the fetus can also help optimize perinatal care in affected children. In three cases we illustrate that certain combinations of obstetric symptoms such as polyhydramnios, diminished fetal movements, malpresentation and abnormal fetal heart rhythm can help alert clinicians to the possibility of this syndrome in fetuses.

Adult↗
PubMedDate not supplied

Management of the fetus with a cystic adenomatoid malformation.

Prenatal detection and serial sonographic study of fetuses with congenital cystic adenomatoid malformation (CCAM) now makes it possible to define the natural history of this lesion, determine the pathophysiologic features that affect clinical outcome, and formulate management based on prognosis. In a series of 22 prenatally diagnosed cases, the overall prognosis depended on the effects of the lung mass and the consequent physiologic derangement: A large mass may cause mediastinal shift, hypoplasia of normal lung tissue, polyhydramnios, and cardiovascular compromise leading to fetal hydrops. Two types of CCAM were distinguished by gross anatomy, ultrasonographic findings, and prognosis. Microcystic lesions (cysts < 5 mm; solid appearance) are often associated with fetal hydrops and have a poor prognosis. Macrocystic lesions (single or multiple cysts > 5 mm) are not usually associated with hydrops and have a more favorable prognosis. Four initially large lesions partially disappeared on serial prenatal sonography, suggesting that improvement can occasionally occur during fetal life. The finding that fetuses with hydrops are at high risk for fetal or neonatal demise led to fetal surgical resection of the massively enlarged pulmonary lobe (fetal lobectomy) in two cases. Fetuses with CCAM but without hydrops have a good chance for survival with maternal transport, planned delivery, and immediate neonatal resuscitation and surgery.

Cystic Adenomatoid Malformation of Lung, Congenita↗
PubMed1984

Roentgenologic findings of the hydrolethalus syndrome.

The hydrolethalus syndrome is an autosomal recessive malformation syndrome which has been recently described in Finland. The name hydrolethalus refers to the main findings, namely polyhydramnios, hydrocephalus and lethality. The patients are either stillborn or die soon after birth. The typical roentgenologic findings are hypoplasia of the tibia associated with the anomalies of the respective bone ray, e.g. metatarsus primus varus atavisticus, hallux varus or hallux duplex varus and hydrocephalus with extreme micrognathia and a specific midline defect of the occipital bone.

Abnormalities, Multiple↗
PubMed2000

Idiopathic origin of meconium peritonitis.

A 26-year-old, gravida 3 presented at 31 weeks of gestation with polyhydramnios. On ultrasound there was marked foetal ascitis with unilateral hydrocele. Patient delivered a 3.15 kg, large-for-date baby at 33 weeks and 3 days of gestation. On basis of clinical, radiological and sonographic features, diagnosis of meconium peritonitis was made. Ascitic tapping was done. Surgery was withheld, as there were no signs of intestinal obstruction. DNA testing for cystic fibrosis was negative. Baby did not deteriorate so he was discharged. Baby was doing well on 2 months follow up. Hydrocele and ascitis were resolving. Rarely meconium peritonitis may occur without an underlying cause when peritonitis may be innocuous and intervention may not be required.

Adult↗
PubMed2004

Hydramnios and small for gestational age are independent risk factors for neonatal mortality and maternal morbidity.

OBJECTIVE: The objective was to evaluate the contribution of hydramnios and small for gestational age (SGA) as a combined pathology to maternal and neonatal morbidity and mortality. METHODS: The study population consisted of 192 SGA neonates with hydramnios, 5,515 SGA neonates with a normal amount of amniotic fluids, 3,714 appropriate for gestational age (AGA) neonates with polyhydramnios and 83,763 AGA neonates with a normal amount of amniotic fluid. A cross-sectional population based study was designed between the four study groups. Multiple logistic regression analysis was used to assess the contribution of these abnormalities and different risk factors to maternal and perinatal complications. RESULTS: The combination of hydramnios/SGA was found to be an independent risk factor for perinatal mortality (OR 20.55; CI 12.6-33.4). Congenital anomalies, prolapse of cord, hydramnios, SGA and grand multiparity were also independent risk factors for perinatal mortality. Independent risk factors for neonatal complications were prolapse of umbilical cord (OR 4.13; 95% CI 1.48-11.5), hydramnios/SGA (OR 2.72; 95% CI 1.81-4.07), chronic hypertension (OR 2.45; 95% CI 1.02-5.9), congenital malformations (OR 1.93; 95% CI 1.14-3.24) and SGA (OR 1.47; 95% CI 1.07-2). Significant independent risk factors for medical interventions during labor were fetal distress (OR 198.46; 95% CI 47.27-825.27), GDM Class B-R (OR 21.22; 95% CI 2.34-192.25), GDM class A (OR 4.64; 95% CI 2.62-8.21), severe pregnancy-induced hypertension (PIH; OR 7.74; 95% CI 2.35-25.42), hydramnios (OR 1.95; 95% CI 1.3-2.91), hydramnios/SGA (OR 1.84; 95% CI 1.12-3.02) and malpresentation (OR 1.56; 95% CI 1.32-1.84). CONCLUSION: The combination of hydramnios and SGA is an independent risk factor for perinatal mortality and maternal complications. We suggest that the growth restriction of these fetuses is responsible for the neonatal complications, while the hydramnios contributes mainly to maternal complications.

Adult↗
PubMed2006

Prenatal diagnosis of a large fetal cervical teratoma by three-dimensional ultrasonography: a case report.

CONTEXT: The cervical teratomas are rare, benign tumors, they are formed by the three embryonic layers, and they represent only 6% of teratomas. The prognosis depends mainly on the size and location of the lesion, on the tumor growth rate, and on the level of tracheal compression. Prenatal diagnosis is usually reached with the aid of a two-dimensional ultrasonography (2DUS) after the 15th week of gestation, which shows a large heterogeneous mass in the cervical region, plus a polyhydramnios, on the Doppler mode which also shows the vascularization of the tumor. CASE REPORT: We report a case of cervical teratoma diagnosed on the 31st week of gestation with the aid of a 2DUS and color Doppler mode. We focus on the main findings obtained with the three-dimensional ultrasonography in surface mode, and we highlight the importance of this methodology for the indirect evaluation of the neonatal prognosis.

Adult↗
PubMed2006

Treatment of twin reversed arterial perfusion sequence by septostomy and amniodrainage: a case report.

INTRODUCTION: An acardiac fetus is the most severe malformation seen in humans. It is an extremely rare complication, occurring in approximately 1% of all monozygotic twin gestations, with an incidence of about 1 in 35,000 births. This malformation happens as a result of the syndrome of reversed arterial perfusion of the acardiac twin from the other normal fetus (pump twin), due to the presence of arterio-arterial anastomoses in a monochorionic placenta. Several obstetric and perinatal complications have been associated to this anomaly and several treatments have been proposed to reduce the morbimortality of the pump twin. There's no report in MEDLINE about the treatment of twin gestations with acardiac fetus through septostomy. CASE REPORT: The present article reports a case of reversed arterial perfusion sequence complicated by polyhydramnios diagnosed at 19th week of pregnancy, treated with septostomy and serial amniodrainage. DISCUSSION: This case presented it demonstrate favorable development of the gestation, with labor happening at 35 weeks gestation and pump twin presenting good vitality conditions. In cases with no major factors of bad prognosis, septostomy combined with amniodrainage could be an interesting therapeutic option for a safe and efficacious management of selected cases of TRAP sequence.

Adult↗
PubMed2005

Multinucleated foreign body giant cells in placental membrane.

We report the pathologic finding of a multinucleated foreign body giant cell reaction to squames and fetal hair in the placental membranes in a 37-week 1-day intrauterine gestation. This reaction appeared to have developed in association with repeated intrauterine procedures performed in the third trimester, including cordocentesis for fetal blood sampling, intrauterine blood transfusion, and amnioreduction for polyhydramnios. This type of reaction most likely was directed to prolonged amniotic fluid leakage that occurred spontaneously or after intrauterine procedures in the second half of the second trimester and the third trimester. Careful examination of the placental membranes and recognition of the foreign body giant cell reaction may provide etiologic insight in cases of unexplained oligohydramnios.

Adult↗
PubMed1978

The lecithin/sphingomyelin ratio in 132 insulin-dependent diabetic pregnancies.

A total of 228 determinations of L/S ratios were performed in 132 insulin-dependent diabetic pregnancies. A declining L/S ratio was observed in 6 per cent of the cases without adverse effects on the fetus. No significant difference in the percentage of mature L/S ratios by weeks of pregnancy was found in the different classes of diabetes. An immature L/S ratio was associated with a significant increase of low Apgar scores. At each stage of pregnancy, there was no significant difference in the percentage of mature L/S ratios according to the sex of the baby nor according to the presence or absence of polyhydramnios. Among the five infants with HMD two had a mature L/S ratio within 2 days of birth. This represents 3 per cent incidence of false-positive results. Despite this finding, we feel that the determination of L/S ratio is a useful advance in the management of diabetic pregnancies.

Amniotic Fluid↗