Fetal abdominal cysts in the first trimester: prenatal detection and clinical significance.

OBJECTIVE: In order to determine the clinical significance of fetal abdominal cysts detected in the first trimester, we reviewed our experience with such cases collected over a 5-year period. METHODS: Five cases in which a fetal abdominal cyst was detected by ultrasound in the first trimester were identified. Information on the ultrasound findings, antenatal course and perinatal outcome was obtained in all cases. RESULTS: The abdominal cyst was confirmed by an early second-trimester scan at 14-16 weeks in all cases, at which time no associated anomalies were detected. The standard detailed second-trimester scan at 18-22 weeks demonstrated complete resolution in three cases. These women had an uneventful antenatal course, and normal newborn infants were delivered at term. However, one of these infants had intestinal malrotation, chronic abdominal distension and midgut volvulus requiring surgery at the age of 7 months. Among the remaining two cases in which the abdominal cyst persisted, one required prenatal aspiration at 19 weeks owing to significant enlargement and resolved. The other remained stable in size and was managed conservatively, but the infant required surgery at the age of 7 weeks owing to a choledochal cyst causing intermittent episodes of acholia. CONCLUSION: Abdominal cysts in early pregnancy often resolve spontaneously or remain small and are usually associated with a good outcome. Nevertheless, as they can also be associated with serious underlying gastrointestinal pathological conditions, close surveillance in the perinatal period is advocated.

Prediction of fetal anemia in rhesus disease by measurement of fetal middle cerebral artery peak systolic velocity.

OBJECTIVE: In red blood cell (RBC) isoimmunized pregnancies fetal anemia is associated with a hyperdynamic circulation. The aim of the present study was to examine further the possible value of fetal middle cerebral artery peak systolic velocity (MCA-PSV) in the management of affected pregnancies. METHODS: A reference range of fetal MCA-PSV with gestation was constructed from the study of 813 normal singleton pregnancies at 20-40 weeks' gestation. Fetal MCA-PSV was also measured in 58 fetuses from RBC isoimmunized pregnancies, with maternal hemolytic antibody concentration of >15 IU/mL at 19-38 weeks' gestation and within 10 days of measurement of fetal hemoglobin concentration in blood obtained either by cordocentesis (n = 43) or at delivery (n = 15). In the RBC isoimmunized pregnancies each of the measured MCA-PSV and hemoglobin concentrations was expressed as a delta value (difference in SDs from the normal mean for gestation). Regression analysis was used to determine the significance of the association between delta MCA-PSV and delta fetal hemoglobin concentration. RESULTS: In the normal pregnancies there was a significant increase in fetal MCA-PSV with gestation (mean MCA-PSV = 10(0.0223 x GA + 0.963)). In RBC isoimmunized pregnancies the fetal MCA-PSV was increased and there was a significant association between delta MCA-PSV and delta hemoglobin concentration (delta hemoglobin = (delta MCA-PSV + 0.093)/-0.356; R(2) = 0.638, P < 0.0001). An MCA-PSV of mean + 1.5 SDs detected 96% of severely anemic fetuses, with a hemoglobin deficit of at least 6 SDs, for a false-positive rate of 14%. CONCLUSION: Measurement of fetal MCA-PSV is a useful method of assessing fetal anemia. In the clinical management of isoimmunized pregnancies a cut-off in MCA-PSV of mean + 1.5 SDs can identify nearly all severely anemic fetuses with a low false-positive rate.

Fetal middle cerebral artery peak systolic velocity in the investigation of non-immune hydrops.

OBJECTIVE: In some cases of non-immune hydrops there is congenital or acquired fetal anemia. The aim of this study was to investigate the potential value of fetal middle cerebral artery peak systolic velocity (MCA-PSV) in the assessment and management of non-immune hydrops due to anemia. METHODS: Fetal MCA-PSV and fetal hemoglobin concentration, in blood obtained by cordocentesis, were measured in 16 singleton pregnancies referred to our unit for further investigations because of a diagnosis of non-immune hydrops fetalis. In all cases a detailed ultrasound examination demonstrated moderate or severe ascites, with or without skin edema, and pericardial or pleural effusions. Furthermore, there were no obvious malformations to account for the hydrops. In each fetus the measured MCA-PSV and hemoglobin concentration were expressed as delta values (the difference in SD from the normal mean for gestation). Regression analysis was used to determine the significance of the association between delta MCA-PSV and delta fetal hemoglobin concentration. In addition, we searched our database to identify the sonographic features and hemoglobin concentration of fetuses with congenital infection. RESULTS: In the 16 cases of non-immune hydrops there were seven with parvovirus B19 infection, one each of alpha-thalassemia and primary cardiomyopathy and seven with no obvious explanation for the hydrops. There was a significant association between delta MCA-PSV and delta hemoglobin concentration (delta hemoglobin = (delta MCA-PSV + 0.1437)/-0.4154; R(2) = 0.7202; P < 0.0001). In 10 of the cases the fetal hemoglobin concentration was more than 4 SD below the normal mean for gestation and in all these cases the MCA-PSV was more than 2 SD above the normal mean for gestation. Our computer search identified an additional nine fetuses with parvovirus B19 infection and in all cases the predominant sonographic finding was ascites and the hemoglobin concentration was more than 4 SD below the normal mean. In contrast, only 3/14 fetuses with cytomegalovirus, toxoplasmosis, coxsackie B or Treponema infection had ascites and only 2/14 had a hemoglobin deficit of 4-6 SD. CONCLUSION: In the management of non-immune hydrops, measurement of fetal MCA-PSV can help identify the subgroup with fetal anemia.

Learning curve for sonographic examination of the fetal nasal bone at 11-14 weeks.

OBJECTIVE: To determine the number of ultrasound examinations necessary for training sonographers to examine accurately the fetal nasal bone at 11-14 weeks' gestation. METHODS: Fifteen sonographers with experience in measuring nuchal translucency were asked to examine the nasal bone during the routine 11-14-week scan. The supervising doctor recorded if the sonographer succeeded in obtaining the correct image. Each sonographer performed a total of 140 examinations, and the data were analyzed in seven groups of 20 examinations. In a second study, two sonographers with extensive experience in examining the nasal bone examined independently 100 consecutive patients at a median fetal crown-rump length of 65 (45-84) mm and median gestational age of 12 (11-14) weeks and recorded whether the nasal bone was absent or present. RESULTS: In the first group of 20 examinations, there was failure to obtain the correct image of the fetal profile in 1-5 (median, 4) cases. In the subsequent three groups, there was failure to obtain the correct image in 0-3 (median, 1) cases. In the fifth and sixth groups failure occurred in 0-2 (median, 0) cases and in the seventh group all sonographers obtained successful images of the fetal profile in all cases. One sonographer obtained successful images of all cases after the first 40 scans, four after the first 60 scans, six after the first 80 and two each after the first 100 and 120 scans. In the second study, there was agreement between the two sonographers that the nasal bone was absent in two and present in 98 of the 100 consecutive patients examined. CONCLUSION: The minimum number of scans required for an experienced sonographer to become competent in examining the fetal nasal bone is on average 80, with a range of 40-120.

Fused umbilical arteries: prenatal sonographic diagnosis and clinical significance.

This report describes a series of 5 fetuses with fused umbilical arteries that had the prenatal feature of a single umbilical artery near the placental insertion and the normal 2 umbilical arteries at the fetal end of the cord. In 1 case this vascular anomaly was associated with unilateral renal agenesis in a fetus with a subsequent diagnosis of Hallermann-Streiff syndrome. No perinatal complications were identified in the remaining 4 fetuses. Postpartum examination of the cord revealed that the 2 umbilical arteries fused to form 1 artery for a long segment of the distal portion of the cord. Our findings suggest that the prenatal evaluation of the umbilical cord to document the number of vessels should include multiple views of the cord and demonstration of the 2 intra-abdominal umbilical arteries with color Doppler imaging for a confident diagnosis. Our observation also suggests that, at least in some cases, single umbilical artery may result from incomplete splitting of the single artery normally present in early human embryos.

Risks of funipuncture in fetuses with single umbilical arteries.

OBJECTIVE: To estimate procedure-related risks of funipuncture in fetuses with single umbilical arteries (UAs). METHODS: We identified fetuses that had blood samples collected by funipuncture and in which single UAs were detected, prenatally or postnatally. We also recorded maternal demographics, prenatal sonographic findings, gestational age at the time of the procedure, procedure-related complications, and perinatal outcomes. RESULTS: Over 2 years, 14 fetuses identified as having single UAs had funipuncture for prenatal karyotyping at a median gestational age of 29 weeks (range 20-34 weeks). Each had additional abnormal prenatal sonographic findings. The approach to the cord was transplacental in six cases and transamniotic in eight. There were no failed procedures, and 13 of 14 funipunctures were successful on the first attempt. Three fetuses (21%) had complications (bradycardia in two cases and bleeding in one case), a complication rate not greater than that reported in large series of fetuses that had fetal blood sampling. All three complications were associated with the transamniotic approach. There were no procedure-related pregnancy losses within 2 weeks of the procedure in this series. CONCLUSION: Funipuncture does not seem to be associated with increased risk of procedure-related complications or pregnancy losses in fetuses with single UAs, although the risk could be greater with transamniotic than with transplacental sampling.

Iniencephaly: prenatal diagnosis and management.

Iniencephaly is a rare malformation characterized by the triad of occipital bone defect, cervical dysraphism and fixed retroflexion of the fetal head. Because of its almost invariable lethal prognosis, termination of pregnancy is commonplace when this condition is diagnosed before viability. In this report we describe eight cases of iniencephaly prenatally diagnosed by ultrasound between 18 and 28 weeks of gestation and discuss the subsequent obstetric management in a country where elective abortion is illegal. Prenatal karyotyping was performed in seven cases, revealing a normal complement in all fetuses. One pregnancy miscarried at 24 weeks. Uneventful vaginal delivery was accomplished in six of the remaining seven cases, one delivered spontaneously at 29 weeks and five were induced between 28-32 weeks due to increasing polyhydramnios. In the remaining case the pregnancy progressed to 35 weeks, at which time spontaneous labour began and an emergency Caesarean section was performed because of malpresentation. There were no survivors in this series. We conclude that, in countries were elective abortion is not allowed, women carrying an iniencephalic fetus may benefit from preterm induction of labour in order to avoid labour dystocia, maternal trauma during delivery and the risks of a Caesarean section.

Prenatal sonographic diagnosis of Aarskog syndrome.

In 1970, Aarskog described a rare X-linked developmental disorder characterized by short stature in association with a variety of structural anomalies involving mainly the face, distal extremities, and external genitalia (faciodigitogenital syndrome). The major facial manifestations of this syndrome include hypertelorism, broad forehead, broad nasal bridge, short nose with anteverted nostrils, long philtrum, widow's peak hair anomaly, and ocular and ear anomalies. Limb abnormalities consist of short broad hands, brachydactyly, interdigital webbing, hypoplasia of the middle phalanges, proximal interphalangeal joint laxity with concomitant flexion and restriction of movement of distal interphalangeal joints, and flat broad feet with bulbous toes. Genital anomalies are characteristics and include shawl scrotum, cryptorchidism, and inguinal hernia. Most affected patients have normal intelligence, but some authors have noted mild neurodevelopmental delay in up to 30% of the cases. We describe a case of Aarskog syndrome diagnosed prenatally by sonography at 28 weeks' gestation in a high-risk pregnancy for this disorder.

[Von Recklinghausen's disease (neurofibromatosis) and pregnancy: apropos of a clinical case]. / Enfermedad de Von Recklinghausen (neurofibromatosis) y embarazo: a propósito de un caso clínico.

We present a case of von Recklinghausen's disease in a patient whose pregnancy resulted in a stillbirth in the third trimester, probably due to placental insuficiency. Although neurofibromatosis is one off the most frequently occurring genetic diseases, its diagnosis is rarely made.

[Leukemia and pregnancy. Review apropos of a clinical case]. / Leucemia y embarazo. Revisión a propósito de un caso clínico.

A clinical case is presented of a 37 year old patient with acute myelocytic leukemia who conceived while in therapy. The pregnancy was controlled in our department in association with the Hematology Department. A cesarean section was performed in the 37th week of gestation, resulting in a healthy newborn. A review of literature is presented, analyzing the association between these two conditions, as well as repercussion on the mother and infant and the recommended obstetric management.