Prenatal Diagnosis of Lissencephaly Associated with Biallelic Pathologic Variants in the COQ2 Gene.

Primary CoQ10 deficiency comprises several clinical phenotypes. Nevertheless, there are no reports so far of lissencephaly linked to CoQ10 deficiency. Lissencephaly is a developmental condition associated with defective neuronal migration which may be depicted on fetal neurosonography by persistence of a laminar pattern beyond 34 weeks and abnormal cortical sulcation. We report an index case of a male fetus diagnosed with abnormal lamination, characterized by the persistence of a laminar pattern during late pregnancy, following a normal second trimester scan. Post-natal whole exome sequencing revealed biallelic pathologic variants in the COQ2 gene which encodes an enzyme that is part of coenzyme Q10 (COQ10 or ubiquinone) pathway and is involved in the biosynthesis of CoQ, a redox carrier in the mitochondrial respiratory chain and a lipid-soluble antioxidant. This case underscores the heterogeneity of the prenatal phenotypic presentation of pathogenic variants in the COQ2, namely lissencephaly.

A deficiência primária de CoQ10 traduz-se numa variedade de fenótipos clínicos. Todavia, não existe até à data nenhuma descrição deste défice associado a lisencefalia. A lisencefalia consiste numa alteração do desenvolvimento cortical cerebral em que se verifica um defeito na migração neuronal, detetável na neurossonografia pela persistência de um padrão de laminação cerebral após as 34 semanas de gestação e por alterações nas circunvoluções corticais. Neste trabalho descreve-se o caso de um feto masculino com um padrão de laminação cerebral alterado, detetado na avaliação ecográfica do terceiro trimestre, após exame morfológico sem alterações. A sequenciação pós-natal do exoma revelou uma variante bialélica patológica do gene COQ2, que codifica uma enzima da via da coenzima Q10 (COQ10 ou ubiquinona), envolvida na biossíntese do CoQ, um transportador redox da cadeia respiratória mitocondrial e anti-oxidante lipossolúvel. Com este caso, destaca-se a heterogeneidade fenotípica pré-natal das variantes patogénicas no gene COQ2.

Subarachnoid space diameter in chromosomally abnormal fetuses at 11-13 weeks' gestation.

OBJECTIVES: To examine the subarachnoid space diameters in chromosomally abnormal fetuses at 11-13 weeks' gestation. METHODS: Stored three-dimensional (3D) ultrasound volumes of the fetal head at 11-13 weeks' gestation from 407 euploid and 88 chromosomally abnormal fetuses (trisomy 21, n = 40; trisomy 18, n = 19; trisomy 13, n = 7; triploidy, n = 14; Turner syndrome, n = 8) were analyzed. The subarachnoid space diameters, measured in the sagittal and transverse planes of the fetal head, in relation to biparietal diameter (BPD) in each group of aneuploidies was compared to that in euploid fetuses. A total of 20 head volumes were randomly selected and all the measurements were recorded by two different observers to examine the interobserver variability in measurements. RESULTS: In euploid fetuses, the anteroposterior, transverse and sagittal diameters of the subarachnoid space increased with BPD. The median of the observed to expected diameters for BPD were significantly increased in triploidy and trisomy 13 but were not significantly altered in trisomies 21 and 18 or Turner syndrome. In triploidy, the subarachnoid space diameters for BPD were above the 95th centile of euploid fetuses in 92.9% (13 of 14) cases. The intraclass reliability or agreement was excellent for all three subarachnoid space diameters. CONCLUSION: Most fetuses with triploidy at 11-13 weeks' gestation demonstrate increased subarachnoid space diameters.

Fetal lipomyelomeningocele: A closed neural tube defect diagnosed at second-trimester ultrasound examination.

Fetal lipomyelomeningocele was suspected during the second-trimester ultrasound and confirmed by magnetic resonance imaging. The pregnancy took its course and a term neonate was delivered. At 2 years of age lipomyelomeningocele surgical removal was performed. The patient is now 4 years old and, despite neurogenic bladder, is a healthy boy with normal psychomotor development for his age. This case illustrates the favorable prognosis of this entity and the importance of prompt diagnosis and multidisciplinary counseling.

Prenatal sonographic diagnosis of Harlequin ichthyosis.

Harlequin ichthyosis is the most severe form of autosomal recessive congenital ichthyoses. So far, there are only a few reports of prenatal diagnosis in the literature, as prenatal sonographic features are quite subtle. We report a case of prenatal diagnosis of Harlequin ichthyosis on third-trimester sonographic examination in a consanguineous couple with no history of the disease and describe its characteristic sonographic features.

Effect of mode of delivery on neonatal outcome of monochorionic diamniotic twin pregnancies: a retrospective cohort study.

OBJECTIVE: To assess whether vaginal delivery increases the risk of adverse neonatal outcome among uneventful monochorionic diamniotic twin pregnancies. STUDY DESIGN: We conducted a retrospective controlled cohort study on 112 uneventful monochorionic diamniotic twin pregnancies at > or = 34 weeks' gestation. The outcomes of 52 monochorionic diamniotic twins delivered vaginally were compared with those of 172 monochorionic diamniotic twins delivered by cesarean section. RESULTS: Five babies (2.9%) in the cesarean section group had a 5-minute Apgar score < 7 and needed orotracheal intubation, whereas in the vaginal delivery group no 5-minute Apgar score < 7 or orotracheal intubation occurred (p = 0.002). Delivery by cesarean section presented higher rates of admission to neonatal intensive care unit (62 out of 172 babies delivered by cesarean section compared to 3 out of 52 babies delivered vaginally, p < 0.001). There were no cases of intrapartum twin-to-twin transfusion syndrome or neonatal death at time of hospital discharge in either group. CONCLUSION: Vaginal delivery appears to be a good management option in uneventful monochorionic diamniotic twin pregnancies after 34 weeks' gestation.

Dilated fourth ventricle in fetuses with trisomy 18, trisomy 13 and triploidy at 11-13 weeks' gestation.

OBJECTIVE: To determine if in fetuses with aneuploidies the diameter of the fourth cerebral ventricle at 11-13 weeks' gestation is different from euploid fetuses. METHODS: The fourth ventricle at 11-13 weeks' gestation was assessed in 62 cases of trisomy 21, 32 of trisomy 18, 10 of trisomy 13, and 12 of triploidy and compared to 410 normal euploid fetuses. Transvaginal sonography was carried out and 3D brain volumes were acquired. The fetal head was assessed in an axial plane and the diameter of the fourth ventricle was measured. Values in aneuploid and euploid fetuses were compared. RESULTS: The diameter of the fourth ventricle in trisomy 18, trisomy 13 and triploidy, but not in trisomy 21, was significantly higher than in euploid fetuses. In the euploid fetuses the median diameter of the fourth ventricle was 1.9 mm and the 95th percentile was 2.5 mm. The measurements were above the median and the 95th percentile in 25 (78.1%) and 17 (53.1%) cases of trisomy 18, in 10 (100%) and 8 (80.0%) of trisomy 13, and in 10 (83.3%) and 10 (83.3%) of triploidy. CONCLUSIONS: In trisomy 18, trisomy 13 and triploidy the diameter of the fourth ventricle at 11-13 weeks' gestation is increased.

Phenotypic expression in the first case of complete trisomy 12: combination of prenatal ultrasound and necropsic examination.

The authors report the first case of a complete trisomy 12 detected antenatally at 16 weeks of gestation. The ultrasonographic features (craniofacial abnormalities) correlated well with postmortem findings. The absence of the hypophysis gland, olfactory pathways and both adrenal glands, as well as developmental anomalies of the central nervous system, were additional findings at autopsy. The recognition of complete trisomy 12 phenotype can be helpful in the pre- and postnatal diagnosis of future similar cases and parental counseling.

[Sonographic measurement of cervical length and prediction of spontaneous preterm delivery: how useful is it?]. / Avaliação ecográfica do colo uterino e rastreio de parto pré-termo: método útil ou ainda controverso?

Preterm delivery is a major concern in Maternal-Fetal Medicine. The sonographic measurement of the cervix is a reproducible and safe method to assess cervical length. Many authors have shown the benefits of cervical assessment in the screening of pregnant women at risk of preterm labor. Although screening could be useful in women at high-risk for preterm spontaneous labor, in a low-risk population the accuracy of the method is limited. An important issue is the usefulness of cervical cerclage to prevent preterm birth when a short cervix is detected by ultrasonography. In this review, the authors present new evidence of recent literature reporting sonographic measurement of cervical length and prediction of spontaneous preterm birth.

Non-viable cervico-isthmic pregnancy: the importance of an accurate sonographic diagnosis to preserve fertility.

BACKGROUND: Cervico-isthmic pregnancy is a rare occurrence and until the use of current ultrasonographic techniques was associated with a disastrous outcome for women desiring to maintain their fertility. CASE REPORT: A 39-year-old woman was diagnosed at 12 weeks of amenorrhoea with an intra-uterine non-viable pregnancy and a low implantation of the gestational sac. Medical management of this situation with a regimen of intravaginal misoprostol was unsuccessful. At introduction of a cervical expander severe vaginal bleeding ensued, leading to an emergency curettage followed by a life-saving hysterectomy. Pathologic examination confirmed the peroperative impression of an isthmic implantation of the gestational sac. CONCLUSION: Early ultrasonographic diagnosis is essential to make conservative management of cervico-isthmic pregnancy possible.