The sonographic diagnosis of a fetal goiter, confirmed at delivery, is described in a fetus exposed to large doses of propylthiouracil, which was administered to the mother. The pregnancy was also complicated by recalcitrant premature labor secondary to polyhydramnios. The intraamniotic instillation of thyroxine decreased the size of the fetal goiter, and numerous therapeutic amniocenteses permitted continuation of the pregnancy, so a mature infant with a goiter but no airway obstruction was delivered. Amniotic fluid reverse-T3 assays confirmed fetal utilization of the thyroxine. Fetal thyroid physiology is discussed briefly along with the benefits of the antenatal sonographic diagnosis of fetal goiter.

We present the prenatal diagnosis and management in a fetus of a large left ventricular aneurysm complicated by fetal arrhythmias. Images include thick slice 3/4D and subtraction volume 3/4D imaging to evaluate ventricular function as well as 2D imaging and Doppler techniques to evaluate the arrhythmia.

To show that the maternal hyperoxygenation test for pulmonary vascular reactivity (HPVR) is useful for prognosis in the fetus with very small lungs associated with congenital diaphragmatic hernia (CDH). Twenty four fetuses with severe CDH underwent HPVR after 30 weeks gestation. Severe CDH was defined as lung smaller than the cardiac mass in the transverse image of the fetal thorax. Doppler studies of the mid right pulmonary artery were performed before and after 10 minutes of the mother oxygenation by mask. Before and after pulsatility indices (PI) of the flow patterns were compared. A positive change was considered as a greater than 20% decrease in PI indicating increased pulmonary blood flow. Of the 24 fetuses with CDH, 12 are alive and 12 died after delivery. Of those alive, 12 of 12 (100%) had a positive HPVR. Of those who died, 8 of 12 had a negative HPVR. Of those infants who died with a positive HPVR, all underwent CDH surgical repair with Gore-Tex patch: one died at 85 days with sepsis, one who died at 60 days had meconium aspiration syndrome and respiratory failure, one died at 29 days with sepsis, and one died at 13 days from sepsis who also had single kidney and cleft palate. The maternal hyperoxygenation test for pulmonary vascular reactivity can be useful for prognosis when fetuses are found to have CDH with small lungs. Surgical expertise and experience and a dedicated neonatal extracorporeal membrane oxygenation team are required to maintain these infants.

To show that the ductus arteriosus (DA), in normal fetuses can react to third trimester maternal usage of acetominephen in a way similar to other non-steroidal anti-inflammatory agents. Seven women who underwent comprehensive fetal cardiovascular ultrasound (fecho) for non-anatomic reasons and one woman who had fecho for a dilated right ventricle were included in this study. All had taken self directed acetaminophen within 36 hours of the study for back pain associated with their pregnancies (24 to 35 weeks' gestation). The women were taking no other medications. The fetus of the women who had fecho for dilated right ventricle had total ductal occlusion with cardiomegaly, tricuspid valve regurgitation, abnormal venous Dopplers and mild pericardial effusion and ascites. The baby was delivered that same day by caesarian section with a normal newborn echocardiogram at 4 hours but with a closed DA. The other 7 fetuses had moderate to severe constriction of the DA at fecho but, after stopping acetominephen, had normal patent DA flow patterns at one week follow-up fecho with normal newborn outcomes. The fetal ductus arteriosus may be affected by incautious maternal use of acetaminophen. We believe that while the effects of non-steroidal anti-inflammatory agents on the fetal DA may be rare, patients and their caregivers should be made aware of the risks of self taking acetominephen in the third trimester.

To determine the size of the ductus venosus in growth restricted fetuses and to compare these against normally grown fetuses. In a cross sectional study, normally grown fetuses and growth restricted fetuses age 16 to 38 weeks were evaluated for Doppler flow in the ductus venosus with the measurements of sizes at the narrowest segment of the DV. In a magnified image, the DV was identified by aliasing at the end of the intraabdominal umbilical vein. Measurements were made by two observers who were in agreement prior to the placement of the calipers. SPSS software was used to create a normogram for DV size against gestational age. The eight growth restricted fetuses were also plotted on the same graph for comparison. In 5 of the 8 growth restricted restricted fetuses, the DV size was greater than the 95th percentile for gestational age. In these 5 fetuses, 1 had both a normal umbilical artery PI and MCA PI, 2 had both an abnormal umbilical artery PI and MCA PI, and 2 had either the umbilical artery or the MCA as abnormal. Almost two thirds of the growth restricted fetuses had a ductus venosus diameter greater than the 95th percentile for gestational age. This study provides a potential biologic explanation for the redistribution of umbilical venous blood flow in the fetal liver in growth restricted fetuses. Prior literature has shown that the peak systolic velocity in the ductus venosus in growth restricted fetuses remains normal. We postulate that the ductus venosus dilates in growth restricted fetuses, thus providing a low resistance pathway to redirect blood toward the fetal heart and thus maintaining a normal peak systolic velocity in the ductus venosus.

1. To determine the relationship between an intraabdominal vein varix and cardiomegaly. 2. To show that these dilated veins are the result of an arterio-venous malformation (AVM) adjacent to the cord insertion site. Twenty-one fetuses, age 17–23 weeks, referred to fetal echocardiography for cardiomegaly were found to have a varix of the proximal intraabdominal vein adjacent to the abdominal cord insertion site. All were found to have cardiomegaly (cardiac circumference/thoracic circumference or CC/TC > 0.58). Doppler interrogation of the proximal end of the varix with power, color and pulsed wave showed a swirling color jet with a high velocity pulsatile blood flow pattern within the varix. 19 of the 21 fetuses underwent further echocardiography into the third trimester with neonatal evaluation. All 21 fetuses showed an AVM just inside the umbilical cord insertion site. One fetus with trisomy 21 and complete atrio-ventricular canal defect had termination of the pregnancy at 21 weeks' gestation. One fetus had otopalatodigital syndrome and severe heart failure and was stillborn at 22 weeks with autopsy findings of the fistulous connection between the right umbilical artery and vein. One fetus developed hydrops and was successfully treated with maternal digoxin. One fetus had an isolated ventricular septal defect that closed spontaneously after delivery. Four fetuses had a two-vessel umbilical cord. 19 fetuses had normal CC/CT ratio by the late third trimester with no evidence of an AVM in the varix. None of the newborns suffered any sequelae from the in utero AVM. We believe that while a varix may be associated with other congenital anomalies, it is the result of an arterio-venous malformation at the abdominal cord insertion site. Cardiomegaly regresses to normal when the AVM closes, while the varix remains. Of the 19 fetuses delivered, none had sequelae related to the AVM.

Objective: To determine the distribution of nuchal skinfold thickness in normal and Down syndrome pregnancies and to evaluate the use of this sonographic measurement as a screening test for fetal Down syndrome.Methods: A prospective, multicenter, population-based study was performed by experienced obstetric sonographers on 1382 women with sonographically normal fetuses undergoing second-trimester amniocentesis for the indication of advanced maternal age. A standard, well-defined sonographic image was obtained at all collaborating centers. The distributions of nuchal skinfold thickness were compared between euploid and Down syndrome fetuses.Results: There were 1346 chromosomally normal pregnancies, 13 fetuses with Down syndrome (1:106), and 23 other chromosome abnormalities. Seventeen fetuses had measurements of 6 mm or greater, and one of these had Down syndrome. The median nuchal skinfold thickness in Down syndrome was 3.2 mm and in euploid fetuses was 3.1 mm. By the Mann-Whitney rank-sum test, there was no statistically significant difference in nuchal skinfold between the euploid and Down syndrome fetuses (P = .5). Overall, using a nuchal skinfold thickness of 6 mm or greater as a screening test, the detection rate for Down syndrome was one of 13 (8%), the false-positive rate was 16 of 1382 (1.2%), the positive predictive value was one of 17 (6%), and the probability of detecting Down syndrome was 6.5%.Conclusion: In this investigation, excess nuchal skinfold thickness was a poor and unreliable screening test for Down syndrome.

OBJECTIVE:Our purpose was to determine if cytogenetic discrepancies between fetal blood and amniotic fluid are present in fetuses with prenatally diagnosed diaphragmatic hernia.STUDY DESIGN:Chromosome analysis was performed on 15 fetuses with prenatally diagnosed diaphragmatic hernia. Fourteen had both amniotic fluid and fetal blood studies. One fetus had an amniocentesis followed by postnatal skin and peripheral lymphocyte chromosome analysis.RESULTS:In one fetus with a normal karyotype on fetal blood, amniotic fluid mosaicism for a supernumerary isochromosome 12p was identified. Another fetus had normal amniotic fluid chromosome analysis but was diagnosed with mosaic isochromosome 12p on skin biopsy after birth. Concordant aneuploidy in both fetal blood and amniocytes was found in five pregnancies (three with trisomy 18, one with an unbalanced translocation, and one with mosaic supernumerary isochromosome 12p). Eight fetuses had normal karyotypes.CONCLUSION:Because diaphragmatic hernia is a common component of mosaic isochromosome 12p syndrome and this chromosome abnormality is predominantly found in fibroblasts but not lymphocytes, an amniocentesis may be more accurate than fetal blood sampling in defining the true fetal chromosome status when diaphragmatic hernia is detected prenatally.

In our consecutive series of 2,574 chorionic villus sampling (CVS) patients, 146 women (5.7%) underwent a subsequent amniocentesis in the same pregnancy for the indications of absent or insufficient villi (3.3%), elevated maternal serum alpha-fetoprotein (0.93%), CVS mosaicism (0.89%), culture failure (0.23%), specimen contamination (0.15%), and CVS aneuploidy (0.12%). Patients presenting for a CVS should be informed of the possible need for a subsequent amniocentesis in the same pregnancy. There is a need for individual prenatal diagnosis programs to analyze their own data and provide genetic counseling information which pertains specifically to their institution.

Objective To determine the incidence of fetal aneuploidy in women who had unsuccessful chorionic villus sampling (CVS) procedures.Design Retrospective study.Setting Pennsylvania Hospital, Philadelphia, Pennsylvania, USA.Subjects Two thousand six hundred and sixty-eight women who underwent chorionic villus sampling, in 78 (2.9%) of whom villi could not be obtained.Interventions Sixty-nine of 78 (88%) women who had an unsuccessful CVS procedure underwent a subsequent amniocentesis later in the same pregnancy.Main outcome measures The incidence of aneuploidy identified from amniotic fluid chromosome analysis in the 69 women who had an unsuccessful CVS procedure compared to the frequency of aneuploidy in women having a successful CVS procedure.Results Of the 69 women who underwent a post-CVS amniocentesis because of failure to obtain chorionic villi, six aneuploid pregnancies were identified (8.7%). The frequency of aneuploidy in the 2590 successfully sampled CVS patients was 2.5%. This difference was statistically significant (P = 0.009) by Fisher's exact test (two-tailed).Conclusions Women having an unsuccessful CVS procedure should be informed that they may be at increased risk for carrying an aneuploid fetus.

In an infant with idiopathic arterial calcification of infancy, prenatal diagnosis of arterial calcification was made by ultrasonography and allowed initiation of therapy in utero. Etidronate therapy produced apparent radiographic and ultrasonographic improvement in the degree of vascular calcification but did not prevent the lethal progression of intimal vascular occlusive disease.

Selective termination by intracardiac potassium chloride injection was performed in twins discordant for hydrocephaly at 20 weeks' gestation. Because of the potential for vascular anastomoses to exist between the twins, fetal angiography was performed prior to the selective termination procedure. Determination of vascular connections between the fetuses was hindered by fetal bradycardia following intracardiac administration of contrast material. Selective termination was performed without difficulty using intracardiac potassium chloride (KCl) to produce asystole in the twin with hydrocephaly. The unaffected fetus appeared active and had a normal heart rate during and immediately after the procedure. However, both twins were found to have died the following day. Pathologic examination documented several vascular anastomoses between the monochorionic, diamniotic fetuses. A likely cause of death was exsanguination of the normal twin into the abnormal one. This case illustrates the difficulties encountered in selective termination of monozygotic twins and, to our knowledge, represents the first reported use of intrauterine fetal angiography.

Percutaneous umbilical blood sampling allows direct access to the fetal circulation. We describe our experience with the procedure in the first 100 patients whose fetuses were at risk for hemolytic anemia, chromosomal abnormalities, coagulopathy, or intrauterine infection. Hematologic indices, including hemoglobin, hematocrit, red blood cell count, white blood cell count, and platelet count, were analyzed from 50 of the fetuses who were normal at delivery. Normal values and gestational age regression curves (from 17 to 37 weeks' gestation) are presented. The technique and complications of the procedure are described. Percutaneous umbilical blood sampling affords useful information in prenatal diagnosis and entails a low rate of complications.

Two cases of acute fatty liver of pregnancy resulting in maternal and infant survival are described. There have only been six such cases reported previously. The two described here are unique because the diagnosis was made prepartum by an oil red O stain of a frozen section of a liver biopsy, and the patients were promptly delivered by cesarean section under spinal anesthesia. The role of early diagnosis and delivery in this disease is discussed.