Mild fetal cerebral ventriculomegaly as a prenatal sonographic marker for Kartagener syndrome

Primary ciliary dyskinesia (PCD), also referred to as immotile-cilia syndrome or Kartagener syndrome, is a group of genetic disorders caused by defective cilia leading to chronic sinupulmonary infection, situs inversus and reduced fertility. Some PCD patients also have cerebral ventriculomegaly or hydrocephalus. We report here two fetuses and one newborn with mild cerebral ventriculomegaly and a suspected and/or confirmed diagnosis of PCD. These cases demonstrate that mild fetal cerebral ventriculomegaly can be a prenatal sonographic marker of PCD, certainly in fetuses with situs inversus or a history of a previous sib with PCD. Copyright © 2003 John Wiley & Sons, Ltd.     

Vaginal bleeding in pregnancies associated with fetal Down syndrome

It has been suggested that vaginal bleeding in pregnancy is associated with an increased risk of fetal Down syndrome. To investigate this, information on vaginal bleeding, collected at the first antenatal visit, was abstracted from the medical notes of 70 pregnancies associated with Down syndrome and 140 unaffected controls matched for maternal age. Fourteen cases (20 per cent) and 23 controls (16 per cent) had some evidence of bleeding (relative risk estimated as the odds ratio= 1.3; P=0.26, one-sided; 95 per cent confidence interval 0.6–2.8). When these results were pooled with those from the two other controlled studies already published the combined relative risk estimate was 1.8 (P=0.02, two-sided; 95 per cent confidence interval 1.1–3.0). On the basis of present evidence, there is some reason to regard vaginal bleeding prior to the first antenatal visit as a risk factor for Down syndrome but the association and its biological significance remains uncertain.     

The significance of fetal ventriculomegaly: etiology,short- and long-term outcomes

Fetal cerebral ventriculomegaly (VM) is diagnosed when the width of one or both ventricles, measured at the level of the glomus of the choroid plexus (atrium), is ≥ 10 mm. VM can result from different processes: abnormal turnover of the cerebrospinal fluid (CSF), neuronal migration disorders, and destructive processes. In a high percentage of cases, it is associated with structural malformations of the central nervous system (CNS), but also of other organs and systems. The rate of associated malformations is higher (≥60%) in severe VM (>15 mm) and lower (10–50%) in cases of borderline VM (10–15 mm). When malformations are not present, aneuploidies are found in 3–15% of borderline VM; the percentage is lower in severe VM. The neurodevelopmental outcome of isolated VM is normal in > 90% of cases if the measurement of ventricular width is between 10 and 12 mm; it is less favorable when the measurement is > 12 mm. Copyright © 2009 John Wiley & Sons, Ltd.     

Screening for fetal Down syndrome with maternal serum hCG and oestriol: A prospective study

We report the preliminary results of a prospective study aimed at evaluating the effectiveness of Down syndrome (DS) screening using second-trimester measurement of maternal serum human chorionic gonadotrophin (hCG) and unconjugated oestriol (uE3) together with maternal age. Reference values for hCG, uE3, and the hCG/uE3 ratio in normal pregnancies were established from more than 3000 normal gestations and found to follow a log-normal statistical distribution. Risk evaluation was made using reference values for affected pregnancies from retrospective studies. Screening of 10 000 women under 38 years resulted in 412 amniocenteses and the prenatal diagosis of six cases of DS, whereas four cases remained undetected until term. In a parallel study, diagnostic amniocentesis was performed in women over 38 years and in women with a previous affected child, and an evaluation of the risk of fetal DS based on serum hCG and uE3 levels was made in all cases. Fourteen cases of DS were detected. Median values for hCG and uE3 in the 24 affected pregnancies were close to the 90th and tenth centiles of the normal reference values, respectively, and thus are in good agreement with the values reported by others in retrospective studies.     

Serum PAPP-A levels are depressed in women with fetal Down syndrome in early pregnancy

The value of maternal serum pregnancy-associated plasma protein (PAPP)-A in screening for Down syndrome in early pregnancy was assessed using stored samples. Seventeen cases of Down syndrome and 66 unaffected control pregnancies were studied. The median PAPP-A level in the cases was 0.42 multiples of the expected value in controls (p <0.0001). Eleven cases (65 per cent) had levels less than half the expected value compared with only six controls (9 per cent). A commercial assay kit is now needed so that prospective screening with this marker can begin.     

Isolated mild fetal cerebral ventriculomegaly: a retrospective analysis of 26 cases

We retrospectively studied 26 fetuses with isolated mild cerebral ventriculomegaly diagnosed between 1992 and 1998 and defined by a lateral ventricular atrial diameter of 10–15 mm without any other cerebral anomaly. Our objectives were to determine maternal risk factors, to evaluate complementary investigations, to assess developmental prognosis and to propose possible management. During pregnancy 10/26 patients had regressive ventriculomegalies, ten remained borderline at birth and six were confirmed postnatally. No maternal risk factors were identified. Prenatal investigations were carried out in 69% of cases but in only a few cases supplied any information. Postnatal examinations revealed one case of Down syndrome and one of porencephaly. Four children were lost to follow-up. In the 22 other cases, four had developmental delay. Early and unexplained mild ventriculomegaly appears to have a good prognosis. If ventriculomegaly is persistent, prenatal management should be carried out to investigate chromosomal abnormalities, viral infection, and fetal cerebral parenchymal damage. A long postnatal clinical follow-up is required. Copyright © 2001 John Wiley & Sons, Ltd.