Prenatal diagnosis of Greig Cephalopolysyndactyly Syndrome. When to suspect it.

Greig Cephalopolysyndactyly Syndrome (GCPS) is a very rare multiple congenital anomaly with an estimated incidence of 1-9:1,000,000 in newborns with principal findings of macrocephaly, ocular hypertelorism, and polysyndactyly (preaxial or mixed preaxial and postaxial). Very few cases of prenatal diagnoses have been reported. The postnatal diagnosis is based on clinical findings and family background. GLI3, the only gene associated with this anomaly, is altered in more than 75% of cases. Deletions over 1 Mb and involving other genes yield severe clinical cases, which are known collectively as Greig Cephalopolysyndactyly-contiguous gene Syndrome. We report a case in which, despite early polydactyly findings on week 16, the diagnosis was established during the third trimester of pregnancy due to the late presentation of other anomalies corresponding to this syndrome.

First-trimester cystic posterior fossa: reference ranges, associated findings, and pregnancy outcomes.

OBJECTIVE: To report reference ranges for fetal cerebral posterior fossa measurements and to describe the sonographic findings, karyotype results, and pregnancy outcomes in fetuses presenting with cystic posterior fossa (CPF) in the first trimester of pregnancy. METHODS: Two groups of patients undergoing first-trimester sonographic screening at 11-13 weeks' gestation were studied. The first (control group) consisted of 253 consecutive fetuses with normal posterior fossa, in which the brainstem (BS), fourth ventricle, cisterna magna, and BS-occipital bone (BS-OB) diameter were prospectively measured and the BS/BS-OB diameter ratio was calculated. The second (study group) consisted of 14 fetuses in which a CPF was detected. Information on sonographic findings, prenatal karyotype results, and pregnancy outcomes was obtained by reviewing ultrasound reports and medical records. The results from the two groups were then compared. RESULTS: In the control group, the size of all posterior fossa structures increased and the BS/BS-OB diameter ratio slightly decreased as the pregnancy progressed. In the study group, the BS diameter did not differ significantly from the measurements obtained in the control group. However, the BS-OB diameter and the fourth ventricle were significantly larger (p < .05 and p < .001, respectively) in the study group than in the control group. Additionally, the cisterna magna was not identified in 13 of the 14 fetuses (93%) in the study group, in comparison to zero out of the 253 fetuses in the control group (p < .001). Finally, the BS/BS-OB diameter ratio was significantly smaller in the study group when compared with the control group (p < .05). Regarding pregnancy outcomes, 12 of the 14 (86%) affected pregnancies underwent elective termination (n = 11) or ended in an early intrauterine demise (n = 1) due to the associated chromosomal abnormalities or structural defects. The two fetuses with isolated CPF had a normal second-trimester scan and resulted in the delivery of healthy newborn infants. CONCLUSIONS: The detection of a CPF in the first trimester is associated with a high rate of chromosomal and structural defects. By using normative data, early sonographic screening and detection of mildly and moderately abnormal cases is possible. Fetuses with isolated CPF require further study with a detailed second-trimester scan. This is essential in order to differentiate cases with poor and good perinatal outcomes. Finally, our data also demonstrate that the main sonographic tool when screening for CPF in the first trimester is the assessment of the fourth ventricle, which is significantly larger in abnormal cases as the result of the wide communication between the fourth ventricle and the cisterna magna.

Delivery in breech presentation: Perinatal outcome and neurodevelopmental evaluation at 18 months of life.

OBJECTIVES: To compare maternal and perinatal outcomes, including neurodevelopmental results at 18 months of life, between term breech and cephalic deliveries. STUDY DESIGN: In this longitudinal retrospective study of mothers seen at the Maternity and Paediatric University Hospital of the Canary Islands delivery unit from November 1, 2011, to October 31, 2012, we compared maternal and perinatal outcomes associated with breech or cephalic presentation of the foetus. A second analysis was performed to compare breech births, differentiating between whether a vaginal delivery attempt was made or if caesarean section (C-section) without labour had been directly scheduled. The psychomotor development of children 18 months after birth was assessed using the Haizea-Llevant scale. RESULTS: A total of 130 breech deliveries were matched with 130 cephalic deliveries. No perinatal mortality occurred in either group. The C-section percentage was greater in the breech presentation group compared with the cephalic delivery group (72.3 % vs. 14.6 %; p < 0.001). Children in the breech presentation had a threefold increased risk for Apgar scores <7 at 1 min (OR 3.2; 95 % CI: 1.2-8.4; p = 0.016) compared with cephalic presentation. These differences disappeared 5 min after birth. No differences were observed in moderate to severe neonatal morbidity between the breech and cephalic presentation groups. There were no differences between groups in neurodevelopmental outcomes. Of 130 pregnancies with breech presentation, 79 (60.8 %) made a vaginal delivery attempt, and 51 (39.2 %) were planned C-sections. Women who attempted vaginal breech delivery were younger and had a history of previous pregnancy. Apgar scores <7 at 1 min were more frequent in the vaginal delivery attempt group (27.9 % vs. 5.9 %; p = 0.002). A high percentage of type III resuscitation (36.5 % vs. 14.3 %; p = 0.007) and Neonatology admission (22.8 % vs. 5.9 %; p = 0.013) was observed in the vaginal delivery attempt group. Except for Apgar scores <7 at 1 min, none of these associations was significant after adjusting for nulliparity and maternal age. The mode of delivery was not associated with moderate to severe perinatal outcomes. CONCLUSION: The implementation of a specific protocol for selecting pregnant women with breech presentation as candidates for vaginal delivery achieved perinatal outcomes similar to births in cephalic presentation.

Echographic features and perinatal outcomes in fetuses with congenital absence of ductus venosus.

INTRODUCTION: The purpose of this study was to describe the echographic features and perinatal outcomes of fetuses with absence of ductus venosus. MATERIAL AND METHODS: Retrospective review of 10 cases with absence of ductus venosus diagnosed by prenatal ultrasonography between January 2014 and February 2016 at a single referral center. Prenatal findings, umbilical shunting type, perinatal outcomes, and autopsy reports were reviewed. RESULTS: A total of 11 491 fetuses underwent a first- and second-trimester screening during the study period. Ten cases of absence of ductus venosus were diagnosed. All of the fetuses presented an extrahepatic shunt: three fetuses from the umbilical vein to the right atrium and the seven remaining fetuses from the umbilical vein to the inferior vena cava. Major structural defects and fetal effusions were detected in six fetuses. There were two cases of chromosomal abnormalities. Five patients underwent legal termination of pregnancy and five decided to carry to term. In two of these, the absence of ductus venosus anomaly was isolated and had a normal outcome. In the remaining three cases, a follow up of the children showed a variety of adverse outcomes. CONCLUSIONS: The absence of ductus venosus is associated with high rates of adverse perinatal outcomes. The prognosis for this group of anomalies depends on the additional findings with targeted ultrasound. This pathology should lead to a detailed anatomical study and affected fetuses should be closely monitored for signs of congestive heart failure.