S. Yagel

Congenital Heart Defects Natural Course and In Utero Development

BACKGROUNDnMost congenital heart defects (CHDs) are diagnosed on targeted prenatal transvaginal (TVS) or transabdominal (TAS) ultrasonography during the early second trimester or at midgestation. Nevertheless, delayed diagnosis in some cardiac malformations still remains despite detailed echocardiographic examination. The present study was conducted to evaluate the evolution of fetal cardiac anomalies and assess their development in utero.nnnMETHODS AND RESULTSnWe retrospectively reviewed 22,050 pregnant women who were divided into two groups: 6924 who had initial TVSs at 13 to 16 weeks gestation, followed by TASs at 20 to 22 weeks, and 15,126 who had initial TASs at 20 to 22 weeks. Both groups were subsequently examined in their third trimester. All newborns were examined by certified pediatricians. CHD was diagnosed in 168 babies: 66 in group A and 102 in group B. In group A, 42 malformations (64%) were detected at the first TVS examination, and 11 (17%) were found during the subsequent TAS. Three additional anomalies (4%) were found during the third trimester, and 10 malformations (15%) were detected postnatally. In group B, 80 malformations (78%) were detected in the initial examination at midtrimester, and an additional 7 (7%) were found in the third trimester, whereas 15 (15%) were diagnosed postnatally. The 10 anomalies (group A, n=3; group B, n=7) that were detected only during the third trimester comprised aortic stenosis (n=2), cardiac rhabdomyoma (n=2), subaortic stenosis (n=1), tetralogy of Fallot (n= 1), aortic coarctation (n=1), sealed foramen ovale (n=1), ventricular septal defects (n=1), and hypertrophic cardiomyopathy (n=1).nnnCONCLUSIONSnAlthough most fetal cardiac anomalies are detectable early in gestation, some may evolve in utero at different stages of pregnancy.

Risk of Fetal Loss in Twin Pregnancies Undergoing Second Trimester Amniocentesis

OBJECTIVE To assess the rate of fetal loss among bichorionic twin gestations undergoing genetic amniocentesis compared with singletons undergoing the procedure and untested twins. METHODS In a retrospective cohort study, three groups were compared: 476 women with twins undergoing amniocentesis, 489 women with singleton gestations undergoing amniocentesis, and 477 women with twins presenting at a similar gestational age for ultrasound studies only. All subjects were scanned at 17–18 weeks gestation and again approximately 4 weeks after the procedure or first ultrasound scan. Excluded were twin pregnancies after fetal reduction or chorionic villus sampling, fetuses with structural anomalies, and cases in which one fetus had died at the time of examination or after fetal reduction. RESULTS Thirteen twin gestations in the tested group (2.73%) aborted spontaneously up to 4 weeks after the procedure compared with three twin controls (0.63%, P = .01) and three post‐procedure singleton controls (0.6%, P = .01). An abnormal karyotype was discovered in 15 tested twin pregnancies (3%) and in six tested singletons (1.23%). All affected twin pairs were discordant for the chromosomal anomaly. CONCLUSION The risk of early fetal loss in twins undergoing amniocentesis appears to be higher than that of exposed singletons or unexposed twins.

Application of free‐hand three‐dimensional echocardiography in the evaluation of fetal cardiac ejection fraction: a preliminary study

To investigate the feasibility of using free‐hand three‐dimensional (3D) echocardiography to evaluate fetal cardiac function.

Cerebral lateral ventricular asymmetry : Is this a normal ultrasonographic finding in the fetal brain?

Objective To evaluate the clinical significance of in utero detection of fetal cerebral lateral ventricular asymmetry. Methods We used hig resolution ultrasonography to study asymmetries of the fetal lateral ventricles in the human brain. A retrospective survey was conducted on 7200 pregnant women who presented at two large district hospitals in Israel. Only fetuses with a difference of greater than 2.4 mm (two standard deviaitions) in the width of the lateral ventricles, with no known brain pathology, were included in the study. Index cases were evaluated regarding maternal complication, prenatal ultrasound examinations, postnatal imaging studies, and neonatal out come up to 6 months of age. Results Lateral ventricular asymmetry was found in 21 subjects, all with available clinical data. In 15 fetuses (71%), the body or the occipital horn of the left lateral ventricles was larger than the right, whereas in six fetuses (29%), the right was larger than the left. In four cases (20%), serial scans noted resolution of asymmetry; in 15 (75%), it was persistent; and in one (5%), asymmetry increased. In one case, termination of pregnancy was performed, however, pathologic examination of the fetal brain failed to detect any structural abnormality. Underlying cerebral pathology was later found only in three fetuses (14%); one had subclinical cytomegalovirus ventriculitis, one had insidious periventricular hemorrhage, and in one fetus with increased asymmetry, trisomy 21 was verified. All the remaining 17 cases had normal neurologic development. Conclusions Some degree of asymmetry of the lateral ventricles exists in the human fetal brain and is detectable in utero. Lateral ventricular asymmetry alone is probably not clinically significant, and it may be considered as a normal variant, rather than a pathologic finding.

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.

Detailed assessment of fetal ventricular septal defect with 4D color Doppler ultrasound using spatio-temporal image correlation technology

A 25-year-old woman, gravida 2 para 1, presented at 23 weeks’ gestation for detailed targeted organ scanning with fetal echocardiography, after having received contradictory opinions concerning a suspected ventricular septal defect (VSD) during previous ultrasound examinations. The parents reported no family history of congenital heart malformation. Targeted organ scanning for exclusion of fetal anomalies was performed, including

Spontaneous ovarian hyperstimulation syndrome and hyperreactio luteinalis are entities in continuum

Hyperreactio luteinalis (HL) and spontaneous ovarian hyperstimulation syndrome (OHSS) are both rare conditions during pregnancy. The clinical presentation of HL and OHSS are comparable and both should be differentiated from ovarian carcinoma. We present a case of a 32‐year‐old woman who was initially seen with markedly enlarged multicystic ovaries and ascites in the 13th week of a spontaneously conceived pregnancy. Ultrasonographic follow‐up and magnetic resonance imaging of the ovaries were employed in order to avoid exploratory laparotomy and rule out ovarian carcinoma. The patient received supportive therapy and delivered a healthy child at term. The increasing use of ultrasonography may lead to more frequent findings of multicystic ovaries in spontaneously conceived pregnancies. Making the distinction between HL and spontaneous OHSS in these cases may be difficult though clinically irrelevant as the approach to treatment is similar in both. Copyright

Collaborative study on 4-dimensional echocardiography for the diagnosis of fetal heart defects: The COFEHD study

Objective. Congenital anomalies are the leading cause of infant mortality in the United States, and congenital heart defects (CHDs) are the most common type of birth defects. Recently, 4‐dimensional ultrasonography (4DUS) with spatiotemporal image correlation (STIC) has been introduced for fetal echocardiography. Accumulating evidence indicates that 4DUS with STIC may facilitate the examination of the fetal heart. Our objectives were to determine the accuracy of 4DUS for the diagnosis of CHDs and the agreement among centers. Methods. This study included 7 centers with expertise in 4D fetal echocardiography. Fetuses with and without confirmed heart defects were scanned between 18 and 26 weeks, and their volume data sets were uploaded onto a centralized file transfer protocol server. Intercenter agreement was determined using a κ statistic for multiple raters. Results. Ninety volume data sets were randomly selected for blinded analysis. Overall, the median (range) sensitivity, specificity, positive and negative predictive values, and false‐positive and ‐negative rates for the identification of fetuses with CHDs were 93% (77%–100%), 96% (84%–100%), 96% (83%–100%), 93% (79%–100%), 4.8% (2.7%–25%), and 6.8% (5%–22%), respectively. The most frequent CHDs were conotruncal anomalies (36%). There was excellent intercenter agreement (κ = 0.97). Conclusions. (1) Four‐dimensional volume data sets can be remotely acquired and accurately interpreted by different centers. (2) Among centers with technical expertise, 4DUS is an accurate and reliable method for fetal echocardiography.

Postpartum evaluation of the anal sphincter by transperineal three-dimensional ultrasound in primiparous women after vaginal delivery and following surgical repair of third-degree tears by the overlapping technique

Intrapartum damage to the anal sphincter is an important factor in fecal incontinence. Recognized lacerations occur in 0.36–8.4% of vaginal deliveries, and occult sphincter damage in up to 35% of primiparous women. We examined the role of three‐dimensional transperineal ultrasound (3DTUS) in the evaluation of the anal sphincter in primiparous women after vaginal delivery and after surgical repair of third‐degree intrapartum tears by the overlapping technique.

Fetal lung lesions: a spectrum of disease. New classification based on pathogenesis, two‐dimensional and color Doppler ultrasound

Prenatal ultrasound detection of fetal anomalies has not only revolutionized management of the fetus and neonate, it has also transformed our perception of the development and natural history of congenital anomalies throughout gestation1,2. Changes in our understanding of fetal lung anomalies illustrate this concept. Ten years ago, fetal echogenic lung lesions were considered grave fetal malformations and, accordingly, textbooks of that period suggested termination of pregnancy (TOP) before fetal viability3,4. In a large series published by King’s College London in 1994 summarizing 132 cases of congenital cystic adenomatoid malformation (CCAM), 44 (33%) of the cases underwent elective TOP5. Only 4 years later, another study from a very similar tertiary center reported a 10% TOP rate6. We have also learned over the ensuing decade that some of these lesions may display dynamic changes in utero. For example, CCAM Type III was once thought to have a uniformly poor prognosis and as a result prenatal diagnosis would often lead to TOP. However, a proportion of cases of CCAM Type III diagnosed prenatally have been shown to resolve spontaneously. The King’s College London study reported this dynamic process in 9% of its series, while a large Canadian study recently showed that 56% of cases of CCAM regressed spontaneously7. In contrast, tumor growth and hemodynamic deterioration may complicate clinical management of these lesions. To add to the confusion, the two most common pathologies of the fetal lungs, CCAM and bronchopulmonary sequestration (BPS), which seemed to be pathologically and clinically distinct, frequently overlap8, and confused terms such as ‘hybrid form’ and ‘missing link’ appear in the literature9,10. These new and conflicting data are the tip of the iceberg of conjecture and controversy surrounding the etiology and pathogenesis of fetal lung lesions, and classification of a specific lung anomaly according to traditional criteria has become irrelevant. It is time to revise the terminology of congenital lung lesions, not least in light of emerging in-utero treatment modalities for these malformations11. We review here the latest pathological and pathogenic aspects of fetal CCAM and BPS, in an attempt to draw a parallel with prenatal ultrasound technology. Our aim is to propose a new classification system based on the pathogenesis of these malformations and their two-dimensional (2D) and color Doppler ultrasound characteristics. Elsewhere12 we demonstrate the applicability of this classification system in a clinical setting.