Shlomo Lipitz

Prenatal ultrasonographic diagnosis of fetal heart echogenic foci: No correlation with Down syndrome

Objective To determine whether karyotype is indicated when fetal heart echogenic foci are encountered on prenatal sonogram. Mehtods Pregnant women who presented at two large district hospitals in Israel that treat 7200 gravidas per year, and in whom fetal heart echogenic foci were diagnosed, were studied prospectively. Identified cases had detailed prenatal and postnatal echocardiographic examinations, and pregnancy outcome was assessed. Results During 18 months, 2214 low-risk pregnant women were examined sonographically, and 163 (7.4%) cases of fetal heart echogenic foci were detected at the first transvaginal sonography at 13-16 weeks gestation. On a repeat scan at 20-22 weeks gestation, 59.5% of the foci could not be identified, leaving only 66 (3%) cases for postnatal evaluation. Left ventricle-right ventricle ratio for location of the fetal heart echogenic foci was 3:1; 4.9% of all cases had bilateral findings. The karyotypes of 16 fetuses were normal and no additional abnormalities were found. The remaining 50 cases were normal in appearance at delivery without any features that suggested trisomy 21. A review of the English language literature revealed that six of 489 cases with fetal heart echogenic foci (1.2%) had trisomy 21. However, statistical analysis of a hypothetical sample that produced these six cases revealed that the calculated risk of trisomy 21 in a fetus with fetal heart echogenic foci is about 0.002%. Conclusion Karyotyping is unwarranted in the midtrimester fetus with incidental findings of fetal heart echogenic foci.

The development of the fetal vermis: anin-uterosonographic evaluation: Fetal vermis and prenatal sonographic evaluation

To establish a nomogram for fetal vermis measurements during gestation.

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.

Fetal aortic arch measurements between 14 and 38 weeks' gestation: in-utero ultrasonographic study.

Objectiveu2003To establish in‐utero reference ranges for fetal transverse aortic arch diameter (TAD) and distal aortic isthmus diameter (DAID) using high‐resolution ultrasound techniques.

Outcome of twin pregnancies reduced from triplets compared with nonreduced twin gestations

Objective To compare the outcome of triplet pregnancies reduced to twins reached 24 weeks gestation with the outcome of twin pregnancies managed in the same perinatal department. Methods The study group included 43 triplet pregnancies reduced to twins reached 24 weeks gestation and were delivered between January 1989 and December 1993. The complications and outcomes of these pregnancies were compared with all 134 bichorionic twin pregnancies delivered during 1993. Results In general, the outcome of triplet pregnancies reduced to twins was not significantly different from that of twin pregnancies. Both pregnancy-induced hypertension and premature contractions were similar in the two groups. The higher incidence of premature repture of membranes (PROM) in the reduced cases compared with nonintervention twins (18.6 versus 8.2%) was of borderline significance (relative risk [RR] 2.27, 95% confidence interval [CI] 0.98–5.27). Although premature delivery occurred in 30% of patients in both groups, 20.9% of patients in the reduction group delivered before 35 weeks gestation, compared with 10.4% in the nonintervention group (RR 2.0, 95% CI 0.93–4.30). The mean gestational age was similar in the two groups, as was the risk of low birth] weight and respiratory disorders. Differences in the proportion of patients with PROM, low gestation duration, and very low birth weight, although not quite statistically significant, are probably because of the relatively small numbers and, hence, of low power (50–55%), but may be of clinical importance. Conclusion The outcome of triplet pregnancies reduced to twins did not differ substantially from that of nonreduced twin pregnancies.

The development of the foetal thyroid: in utero ultrasonographic measurements

The early recognition of potentially treatable thyroid disease in the foetus frequently depends on the detection of abnormal growth of the foetal thyroid gland. We have therefore established nomograms for foetal thyroid transverse width and circumference from 14 weeks of gestation until term, using transvaginal and transabdominal high‐resolution ultrasound techniques.

The effect of fertility drugs and in vitro methods on the outcome of 106 triplet pregnancies

OBJECTIVEnTo compare the effect of fertility drugs and IVF on the outcome of triplet pregnancies.nnnDESIGNnProspective clinical study.nnnSETTINGnA single university medical center.nnnPATIENTSnOne hundred six consecutive triplet pregnancies treated from 1984 through 1992.nnnMAIN OUTCOME MEASURESnThe frequency of pregnancy loss, livebirths, and antenatal and neonatal complications was compared in spontaneous, clomiphene citrate (CC), menotropins, and IVF triplet pregnancies.nnnRESULTSnEighty-one of the 106 (76.4%) triplet pregnancies progressed beyond 25 weeks, comprising 6 of 7 (85.7%) spontaneous pregnancies, 13 of 16 (81.2%) CC induced, 44 of 56 (78.6%) menotropin induced, and 18 of 27 (66.6%) IVF gestations. There were no significant differences in the stillbirth and neonatal mortality rates according to the mode of conception. The mean gestational ages and the mean birth weights were similar in the four groups. The frequency of premature contractions, premature rupture of membranes, cesarean section, and neonatal complications were similar in the ovulation induction and IVF pregnancies.nnnCONCLUSIONnTriplet pregnancies after ovulation induction and IVF have a similar outcome.

Diffusion MRI Findings in Monochorionic Twin Pregnancies after Intrauterine Fetal Death

BACKGROUND AND PURPOSE: Monochorionic twin pregnancies complicated by the IUFD of 1 twin are associated with substantial morbidity to the survivor twin. The aim of this study was to determine whether fetal sonography, T2 MR imaging, and DWI can diagnose acute cerebral lesions in the survivor of an MC twin pregnancy shortly after fetal death of the co-twin. MATERIALS AND METHODS: During the study period (2007–2010) 34 cases of single IUFD were evaluated. Group A included 6 cases complicated by spontaneous IUFD. Group B had 10 cases of fetal death shortly after treatment of severe TTTS. These were compared with group C, with 18 pregnancies treated by selective termination due to severe complications in MC pregnancies. RESULTS: Altogether 9/34 patients had abnormal prenatal cerebral findings. In group A, in 2/6 of pregnancies with spontaneous death, MR imaging showed findings of severe cerebral infarct, while cerebral damage was not evident by sonography. In another case, the surviving fetus was found to be hydropic on sonography, while MR imaging findings were normal. In group B, in 1/10 cases, cerebral infarct was demonstrated only by DWI. In 2 other cases, sonographic findings were normal, but MR imaging showed germinal matrix bleeding. In group C, in 1/18 cases, only DWI showed bilateral cerebral ischemia. In 2 other cases, MR imaging findings suggested germinal matrix bleeding and focal changes in the basal ganglia. In both cases, fetal sonographic findings were normal. CONCLUSIONS: In our study, early manifestations of cerebral ischemia in monochorionic twin pregnancies were better diagnosed with MR imaging, especially with DWI.

Hyperechogenic fetal bowel and elevated serum alpha-fetoprotein: a poor fetal prognosis

Objective To evaluate the clinical significance of increased fetal bowel echogenicity in women with elevated maternal serum alpha-fetoprotein (MSAFP) during the second trimester. Methods The study group comprised six pregnant women with elevated second-trimester MSAFP (greater than 2.5 multiples of the median), whose ultrasonographic evaluations indicated hyperechogenic fetal bowel. They were compared with six pregnant women whose fetuses, during routine second-trimester ultrasonographic screening for fetal anomalies, were found to have a hyperechogenic bowel without elevated MSAFP, according to natural history, pregnancy outcome, and associated features. Results All six fetuses with the combination of elevated MSAFP and echogenic bowel were growth-restricted; four died in utero and one of the two live-born infants died during the neonatal period. The single survivor in this group was born prematurely; necrotizing enterocolitis was diagnosed at 30 days of life and surgery was performed. None of the cases had associated congenital anomalies. Only one of the six controls had associated anomalies (trisomy 21), and this pregnancy was terminated. The pregnancy course of the remaining five fetuses was normal; all were appropriate for gestational age and were delivered at term. No perinatal mortality occurred in this group; however, in one infant, cerebral palsy was diagnosed at 10 months of age. Conclusion Fetal bowel hyperechogenicity found in women with elevated second-trimester MSAFP levels is associated with poor fetal outcome, particularly fetal growth restriction with fetal and neonatal death, and should be considered an ominous prenatal finding.

Pregestational, periconceptional, and gestational primary maternal cytomegalovirus infection: prenatal diagnosis in 508 pregnancies.

OBJECTIVEnThe objective of the study was to evaluate the vertical transmission rate and fetal risk following primary maternal cytomegalovirus infection before and around conception.nnnSTUDY DESIGNnData of patients referred to fetal medicine clinic in 1 tertiary center in Israel were evaluated. Each included subject had primary maternal cytomegalovirus infection determined by serology, precise gestational dating, and testing of fetal infection. Subjects were assigned to five subgroups: pregestational, periconception, and first, second, or third trimester of pregnancy.nnnRESULTSnFive hundred eight pregnancies were included. None of the 97 pregnancies in the preconception group and 6 of the 130 periconception subjects (4.6%) were congenitally infected. Transmission rates were 34.8%, 42.0%, and 58.6% for the first, second, and third trimesters, respectively (P = .049). Prenatal and postnatal follow-up indicated that third-trimester infection has no clinical effect on the fetus.nnnCONCLUSIONnPre- and periconception maternal infection carries small risk for fetal infection, whereas it is positively correlated to time of maternal infection during pregnancy.