Corpus callosum size by neurosonography in fetuses with congenital heart defect and relationship with expected pattern of brain oxygen supply.

OBJECTIVE: To evaluate corpus callosum (CC) size by neurosonography (NSG) in fetuses with an isolated major congenital heart defect (CHD) and explore the association of CC size with the expected pattern of in-utero oxygen supply to the brain. METHODS: A total of 56 fetuses with postnatally confirmed isolated major CHD and 56 gestational-age-matched controls were included. Fetuses with CHD were stratified into two categories according to the main expected pattern of cerebral arterial oxygen supply: Class A, moderately to severely reduced oxygen supply (left outflow tract obstruction and transposition of the great arteries) and Class B, near normal or mildly impaired oxygenated blood supply to the brain (other CHD). Transvaginal NSG was performed at 32-36 weeks in all fetuses to evaluate CC length, CC total area and areas of CC subdivisions in the midsagittal plane. RESULTS: CHD fetuses had a significantly smaller CC area as compared to controls (7.91 ± 1.30 vs 9.01 ± 1.44 mm2 ; P < 0.001), which was more pronounced in the most posterior part of the CC. There was a significant linear trend for reduced CC total area across the three clinical groups, with CHD Class-A cases showing more prominent changes (controls, 9.01 ± 1.44 vs CHD Class B, 8.18 ± 1.21 vs CHD Class A, 7.53 ± 1.33 mm2 ; P < 0.05). CONCLUSIONS: Fetuses with major CHD had a smaller CC compared with controls, and the difference was more marked in the CHD subgroup with expected poorer brain oxygenation. Sonographic CC size could be a clinically feasible marker of abnormal white matter development in CHD. © 2021 International Society of Ultrasound in Obstetrics and Gynecology.

Prenatal diagnosis of chromosomal abnormalities in fetuses with abnormal cardiac ultrasound findings: evaluation of chromosomal microarray-based analysis.

OBJECTIVES: To assess the frequency of karyotype abnormalities and chromosome 22q11.2 deletion syndrome among fetuses with abnormal cardiac ultrasound findings, and to evaluate the clinical value of chromosomal microarray-based analysis (CMA) in the study of such pregnancies. METHODS: First, we carried out retrospective analysis of karyotype abnormalities and 22q11.2 deletion syndrome cases diagnosed between January 2009 and December 2011 in our center among fetuses with abnormal cardiac ultrasound findings (n = 276). Second, CMA was performed in 51 of the fetuses with such findings, normal karyotype and negative or no 22q11.2 deletion syndrome study, and in the only fetus with a heart defect and an apparently balanced de novo chromosomal rearrangement. RESULTS: Out of the 276 pregnancies with abnormal cardiac ultrasound findings, karyotyping revealed a chromosomal abnormality in 44 (15.9%). Of fetuses with normal karyotype in which 22q11.2 deletion syndrome studies were performed, 6.4% (5/78) had this microdeletion syndrome. Among fetuses with abnormal cardiac findings, normal karyotype and negative or no 22q11.2 deletion syndrome study that underwent CMA, the detection rate of pathogenic copy number variants not detected by conventional cytogenetics was 2.0% (1/51), and no variants of uncertain clinical significance were found. In the fetus with a heart defect and an apparently balanced de novo chromosomal rearrangement, CMA revealed that the rearrangement was not truly balanced. CONCLUSIONS: In the assessment of genetic abnormalities in pregnancies with abnormal cardiac ultrasound findings, the diagnostic yield may be increased by 2% if CMA is used as a complementary tool to conventional cytogenetics. Our results suggest that CMA could be a good alternative to karyotyping in these pregnancies.

Prenatal diagnosis of hypoplastic left heart syndrome and trisomy 18 in a fetus with normal nuchal translucency and abnormal ductus venosus blood flow at 13 weeks of gestation.

We describe a case of early prenatal diagnosis of a major congenital heart anomaly and trisomy 18 in a low-risk pregnant woman. Nuchal translucency (NT) measurement at 13 weeks' gestation was 1.2 mm and Doppler evaluation of the ductus venosus detected a persistent reversed flow during atrial contraction. This finding prompted us to perform fetal echocardiography which showed hypoplastic left heart syndrome. Karyotyping following chorionic villus sampling diagnosed trisomy 18. Review of the recent literature suggests that the finding of an abnormal ductus venosus Doppler pattern in the late first trimester of pregnancy may be an early sign of either congenital cardiac or chromosomal abnormality, even in the presence of normal NT screening.

Hereditary subependymal heterotopia associated with mega cisterna magna: antenatal diagnosis with magnetic resonance imaging.

Bilateral nodular subependymal heterotopia has recently been identified as a hereditary disease linked to the X-chromosome. The sonographic findings are very subtle and difficult to observe during the second trimester when the germinal matrix is at its largest. Fetal magnetic resonance imaging facilitates visualization of the periventricular area. We report a case of bilateral nodular heterotopia associated with mega cisterna magna diagnosed by ultrasound and magnetic resonance imaging at 29 weeks' gestation. Magnetic resonance imaging of the brain of the mother revealed similar findings to those observed in the fetus and neonate. This case confirms the association between mega cisterna magna and bilateral periventricular nodular heterotopia and demonstrates that neuroimaging studies of the mother can contribute to the fetal diagnosis.

Cardiopatías congénitas fetales: anomalías conotruncales / Feal congenital cardiac disease: conotruncal anomalies

Las anomalías conotruncales afectan básicamente a la formación de los tractos de salida. Constituyen entre el 20-30 por ciento del total de cardiopatías congénitas (CC) al nacimento, siendo la 1ª causa de cianosis cardíaca durante el primer año de vida (1-3). Para estudio prenatal las clasificamos en: tetralogía de Fallot, atresia pulmonar con comunicación interventricular, transposición de grandes arterias (completa, corregida), ventrículo derecho doble salida y truncus arterioso común (4-8).El diagnóstico prenatal es importantísimo, pues son cardiopatías generalmente de buen tratamiento quirúrgico, pero que en el periodo neonatal inmediato, coincidiendo con el cierre del ductus arterioso, pueden ser auténticas emergencias si no han sido diagnosticadas previamente (4, 5). Este diagnóstico prenatal es difícil, pues en un 50 por ciento de los casos el corte de las 4 cavidades es normal, por lo que serán especialmente útiles la valoración del eje cardíaco, el corte de los 3 vasos y la visualización correcta de los tractos de salida, así como el uso del Doppler color y pulsado (8-12).Excepto en la transposición de los grandes vasos, la incidencia de anomalías cromosómicas asociadas es alta, por lo que requieren estudio del cariotipo fetal y estudio FISH para la detección de los síndromes de microdelección del cromosoma 22 (3-8). El pronóstico es individualizado, pero en general es peor cuanto precoz es el diagnóstico. No suele haber afectación hemodinámica en vida fetal, y la conducta obstétrica no ha de modificarse, excepto en el caso de hidrops, poco frecuente, en que sí es obligatoria la cesárea programada (3-6, 8) (AU)

Reversed end-diastolic umbilical artery velocity in two cases of trisomy 18 at 10 weeks' gestation.

Doppler velocimetry of the umbilical artery was carried out during routine ultrasound examinations performed immediately before either chorionic villus sampling (n = 383) or genetic amniocentesis (n = 649) in 1032 women referred for prenatal diagnosis at our institution, between 10 and 18 weeks of gestation. Reversed end-diastolic flow was detected in only two cases (0.19%), both of which were affected by trisomy 18. The diagnosis was made at 10 weeks' gestation and, to our knowledge, these are the earliest records of this pathological Doppler pattern. Although a possible relationship with early abnormal placentation remains to be established, the finding of reversed end-diastolic velocities in the umbilical artery in the first trimester of pregnancy may be an early sign of karyotype abnormality.

Umbilical artery pulsatility index in early pregnancies with chromosome anomalies.

OBJECTIVE: The aim of our study was to obtain measurements of the umbilical artery pulsatility index in pregnancies before invasive procedures for prenatal diagnosis, to investigate its potential prognostic value in predicting chromosomal abnormalities. DESIGN: A prospective study. PARTICIPANTS: Nine hundred and twenty-four consecutive women with singleton pregnancies between 10 and 18 weeks of gestation who underwent chorionic villus sampling (n = 385) or genetic amniocentesis (n = 539). All Doppler measurements were obtained by a single investigator before the invasive procedure. Pregnancies where structural malformations were detected by ultrasound were excluded. RESULTS: Twenty-six fetuses with chromosomal anomaly, including 12 with trisomy 21, were diagnosed. Using the 90th centile in umbilical artery pulsatility index values as a cut-off for trisomy 21 the detection rate was 66.6%, with a specificity of 90.4% and a positive predictive value (defined as the proportion of unaffected individuals with positive results, l-specificity) of 8.8%. However, with this cut-off the false positive rate was 9.6%. All 19 chromosomally normal pregnancies in which a fetal loss occurred after the procedure had a normal umbilical artery pulsatility index before it was carried out. CONCLUSIONS: These preliminary data suggest that trisomic fetuses have an abnormally increased umbilical artery pulsatility index in early pregnancy. Because the number of cases is too small to draw any firm conclusions, the use of a single measurement for screening purposes needs to be confirmed by further investigation and the clinical significance of reference curves of normal values in the detection of pathological conditions has still to be determined. The potential of umbilical artery pulsatility index as an additional parameter along with others previously established for Down's syndrome screening, such as nuchal oedema, needs to be explored further.

The prevalence of cocaine abuse during pregnancy in Barcelona.

The aim of our study was to determine the prevalence of cocaine abuse, by means of positive urine toxicology screens or targeted questionnaire, among women in labor at our hospital. The prospective study included 1773 women who delivered consecutively in our institution. All of them underwent a standardized questionnaire including drug use and demographic data. Urine samples were obtained during labor. Urine toxicology screens for cocaine and its metabolites, opiates, and ethanol were performed by enzyme multiplied immunoassay technique. Information was coded in order to maintain anonymity. Among the 1773 women in labor we screened, the mean age was 27.8 years and the overall prevalence of a positive questionnaire for cocaine was 0.3% and a positive urine toxicology was 0.8%. Results by drug and by demographic items are analysed. There was a substantial denial of cocaine use among the toxicologically positive patients, since only 43% of them referred its use at any time during pregnancy, in conclusion, the use of illicit drugs is common among pregnant women in our institution, but cocaine does not seem to be as prevalent as it is in the USA, while in the labor room most women with a positive test do not refer the use of the drug. Urine toxicology screening increases the rate of detection of substance abuse in this population of women. These studies are necessary to target educational programs among pregnant women.

Bilateral renal agenesis and cytomegalovirus infection in a case of Fraser syndrome.

A case of Fraser syndrome diagnosed prenatally is presented. Detection of oligohydramnios, hydrops fetalis and bilateral absence of the kidneys were the initial findings leading to further study. Specific IgM for cytomegalovirus in maternal serum and confirmed infection by fetal blood sampling was an associated finding. The importance of an etiologic diagnosis of nonimmune hydrops and the relevant aspects of genetic counselling are emphasized. The association of the Fraser syndrome with cytomegalovirus infection has not been previously reported.