Prenatal diagnosis of congenital agenesis of the fetal portal venous system.

OBJECTIVE: To describe the prenatal diagnosis and review our experience of fetal congenital agenesis of the portal venous system (CAPVS) and to review the current literature on this poorly documented vascular malformation. METHODS: This was a retrospective survey covering the 12-year period between 1996 and 2008. The database of a single, large, ultrasonographic tertiary academic referral center in Israel was analyzed and cases with a prenatal diagnosis of CAPVS were identified. All fetuses underwent detailed biometric and structural ultrasound examinations and a precise anatomical description of the fetal umbilical, portal and hepatic venous system was noted, as well as the presence of aberrant vessels, shunt location and the presence or absence of the DV. Results of fetal echocardiography, karyotyping and toxoplasma, rubella, cytomegalovirus and herpes evaluations were determined. Medical records were evaluated. Diagnosis was confirmed by pathology, postmortem venography or neonatal ultrasound or venography. Liveborns were examined by a certified neonatologist and long-term follow-up from pediatric gastroenterology units was determined. RESULTS: Nine cases with CAPVS were studied. In all cases an aberrant umbilical-portal vein was the primary indication for detailed portal system evaluation. Five fetuses demonstrated total CAPVS (Type I) and four showed partial agenesis of the portal vein (Type II). Among the five Type I fetuses, there was a shunt from the umbilical vein to the inferior vena cava in three (60%), to the right atrium in one and to the coronary sinus in one. In this group, in only one case could we delineate a common confluence between the splenic vein and the superior mesenteric vein shunting to the inferior vena cava. In four cases termination of pregnancy was performed due to additional findings: one case with hydrothorax, ascites and mitral atresia, one with cleft lip/palate and one with trisomy 21. One case had no additional anomalies, but the parents elected to terminate the pregnancy. All four of the Type II fetuses had a portosystemic shunt: in two cases to the right atrium, in one to the iliac vein and in one to the right hepatic vein. In three, the shunt resolved spontaneously. In only one case was abnormal liver function present over a follow-up period of 2-10 years. CONCLUSION: CAPVS can be detected prenatally. An abnormal course of the umbilical vein necessitates prompt sonographic evaluation of the umbilical-portal venous system and meticulous investigation for additional anomalies. Complete CAPVS may be associated with remote clinical consequences of which the parents should be informed. Partial CAPVS has a favorable prognosis.

Anomalies of the fetal aortic arch: a novel sonographic approach to in-utero diagnosis.

OBJECTIVE: To describe a novel, sonographic approach for in-utero evaluation of normal and abnormal aortic arch. METHODS: Aortic arch was evaluated by imaging of the axial view of the upper fetal mediastinum. The normal left aortic arch was defined by the V-shaped appearance of the junction between the ductus arteriosus and aortic arch, with the trachea situated posteriorly. Right and double aortic arches were diagnosed when the great vessels appeared U-shaped, with intermediate location of the trachea. RESULTS: Between 1997 and 1999, 18 347 women were scanned in three prenatal centers, and pathological findings were prospectively recorded. In a retrospective analysis of the records, we identified 19 fetuses (0.1%) with atypical, U-shaped appearance, and no other structural abnormalities present. With the exception of one fetus with a ventricular septal defect, no congenital cardiac defects were present. Right aortic arch was found in 18 cases, while color Doppler made it possible to diagnose one case with double aortic arch, and one fetus was demonstrated as having Kommerell's diverticulum. In all 18 cases, a left descending aorta and left ductus arteriosus were present, the latter coursing to the left of the trachea, forming a loose partial vascular ring. All were asymptomatic at birth and early infancy. The fetus with double aortic arch that had a true vascular ring underwent early infantile correction. CONCLUSIONS: It is possible to diagnose right and double fetal aortic arch using prenatal ultrasound. The use of color Doppler facilitated in-utero evaluation of possible complications, such as true vascular ring.

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.

Peripheral right pulmonary artery blood flow velocimetry: Doppler sonographic study of normal and abnormal fetuses.

The knowledge of fetal lung circulation in normal and abnormal human fetuses is limited. Our objectives were to assess normal values for flow velocity waveforms in the fetal pulmonic circulation and to test the hypothesis that Doppler velocimetry can predict lung hypoplasia. In a cross-sectional study, peripheral right pulmonary artery flow velocimetry was investigated prospectively in 96 healthy fetuses between 14 and 37 weeks' gestation and four fetuses with abnormalities known to induce lung hypoplasia. The pulsatility index was used to quantify the velocity waveforms. In normal fetuses the mean pulsatility index in the peripheral right pulmonary artery was low, being equivalent to that corresponding to 14 to 17 weeks' gestation (2.89; confidence interval = 2.35 to 3.42), increasing at midgestation to 3.44, with a confidence interval of 3.04 to 3.83; P < 0.01. Thereafter, during the late second and third trimesters the mean pulsatility index did not change significantly with GA, being 3.66 (confidence interval = 3.04 to 4.04) at term. In fetuses with proven lung hypoplasia, the pulsatility index measurements were within the 95% confidence limits of those for normal fetuses. In a normal pregnancy, except for the early stages, a relatively stable high vascular resistance of the fetal pulmonary circulation was found. Our preliminary data suggest that the pulsatility index of the lung circulation cannot be used as an indicator of lung hypoplasia.

In utero ultrasonographic measurements of fetal aortic and pulmonary artery diameters during the first half of gestation.

The study was conducted to construct a normal range for the diameters of the aortic root and pulmonary artery during the first half of gestation. With the use of transvaginal and transabdominal high-resolution ultrasound techniques, a prospective, cross-sectional study was performed on 139 normal singleton pregnancies at between 14 and 26 weeks. Great vessel diameters were measured by transvaginal ultrasonography until 17 weeks, and by transabdominal ultrasound between 18 and 26 weeks' gestation. The results showed that the aortic diameter (AD) as a function of gestational age (GA) was expressed by the regression equation AD = -16.0331 + 2.2563 x GA, and the pulmonary artery diameter (PD) by PD = -14.7637 + 2.4026 x GA; AD and PD are expressed in millimeters and GA in weeks. The correlation r2 = 0.94 was found to be highly statistically significant (p < 0.0001) for both great vessels. The normal mean of aortic and pulmonary artery diameter per week and the 95% prediction limits were also defined. During the study period we evaluated two cases with arterial diameters outside the 95% confidence limits; one had aortic coarctation and the other tetralogy of Fallot. The normative data established by us may be helpful in the prenatal diagnosis of congenital heart defects that include, among their manifestations, discordant diameters of the great vessels.