Oligohydramnios hampering prenatal diagnosis of Meckel syndrome

Abstract

We report our experience with the prenatal diagnosis of a case of the Meckel syndrome,The pregnancy was the 3rd of healthy non-consanguineous parents. The first child which was hampered by oligohydramnios.(d) had the Meckel syndrome. Although this infant had no open neural tube defect, prenatal amniotic fluid alpha fetoprotein (AFP) estimation was offered for future pregnancies. During the 2nd pregnancy amniocentesis was performed without difficulties 16 weeks after the last menstrual period. The AFP value was normal, and a healthy son was born at term. relatively small and corresponded to a gestational age of 15 weeks. Amniocentesis at that time resulted in several dry taps; three weeks later two punctures were unsuccessful. Ultrasound investigation at both times revealed an apparently normal fetus and placenta but proved to be difficult because of the small amount of amniotic fluid. Only at 20.5 weeks did the puncture produce 25 ml of sanguineous amniotic fluid in which HbF was demonstrated (< 5 ymoleslliter). This quantity of fetal blood contamination could not be held responsible for the elevated AFP value: 150 yg/ml (= 32 X SD). In a 20-hour amniotic fluid cell culture, rapidly adhering cells were seen. Chromosome analysis was normal: 46,XX (Q-banding). Because of the pathological AFP value, the parents asked for an interruption of the pregnancy. This was performed at 2 1.5 weeks; the size of the uterus was then estimated to be equivalent to a gestation of 17-1 8 weeks. Intra-amniotic instillation of hypertonic NaCl proved to be impossible because of oligohydramnios; hence the pregnancy was terminated by intra-muscular administration of 15 mg prostaglandin F, The stillborn female fetus During the 3rd pregnancy uterine size 16.5 weeks after the last menstrual period was

Meckel–Gruber syndrome together with Dandy–Walker malformation: an atypical case report of a 2nd recurrence in a consanguine marriage

“…Being operant-dependent, USG might not be the ideal modality to diagnose MKS, especially if other factors that compromise visualization such as obesity and oligohydramnios are present or the case presents with atypical features. Oligohydramnios is known to limit the visualization of MKS features, especially polydactyly, through prenatal ultrasound [16,17]. Thus, if USG is inconclusive in a known high-risk patient, MRI may be recommended as it offer clearer resolution and can better detect CNS malformations, but it is rarely indicated before the 18 th week of gestation [4].…”

Meckel–Gruber Syndrome: An Update on Diagnosis, Clinical Management, and Research Advances

“…Transabdominal ultrasonography, performed at 10–14 weeks gestation, has been shown to successfully detect several of the fetal anomalies associated with MKS, including polycystic kidneys (from 9 weeks gestation), occipital encephalocele (from 13 weeks), and polydactyly (from 11 weeks), in both high-risk and low-risk pregnancies (Figure 1 B) ( 60 – 64 ). Visualization can be compromised by oligohydramnios ( 65 ), but this is less problematic when performed in the first trimester of pregnancy ( 62 ). Further investigation of anomalies is possible by transvaginal scanning.…”