Recombinant Chromosome 4 with Partial 4p Deletion and 4q Duplication Inherited from Paternal Pericentric Inversion / 대한진단검사의학회지

Pericentric inversion of chromosome 4 can give rise to 2 alternate recombinant (rec) chromosomesby duplication or deletion of 4p. The deletion of distal 4p manifests as Wolf-Hirschhorn syndrome (WHS). Here, we report the molecular cytogenetic findings and clinical manifestations observed in an infant with 46,XX,rec(4)dup(4q)inv(4)(p16q31.3)pat. The infant was delivered by Cesarean section at the 33rd week of gestation because pleural effusion and polyhydramnios were detected on ultrasonography. At birth, the infant showed no malformation or dysfunction, except for a preauricular skin tag. Array comparative genomic hybridization analysis of neonatal peripheral blood samples showed a gain of 38 Mb on 4q31.3-qter and a loss of 3 Mb on 4p16.3, and these results were consistent with WHS. At the last follow-up at 8 months of age (corrected age, 6 months), the infant had not achieved complete head control.

association between polyhydramnios and fetal congenital anomalies: a comparative study of ultrasound techniques of amniotic fluid measurement

Objective: to determine the prevalence of polyhydramnios and its association with fetal congenital anomalies, with comparative measurements of amniotic fluid volume [AFV] using different sonographic techniques

Materials and Methods: this prospective study was done in King Faisal Armed Forces Hospital, Southern Region, Saudi Arabia. One hundred and seventeen patients between 20 and 41 weeks of singleton gestations with fetal congenital anomalies were recruited for the study. Ultrasound was solely used for the detection of fetal anomalies and measurements of AFV. The polyhydramnios was categorised into two groups; mild [>95[th] 97.5[th] percentile] from the normative scale of different techniques

Results: the association of polyhydramnios groups of modified amniotic fluid index [MAFI], amniotic fluid index [AFI] and maximum vertical pocket [MVP] with the fetal congenital malformations were 35 [29.9%], 29 [24.8%] and 27 [23.1%] respectively. The MAFI detected 17.1% cases of mild group and 82.9% cases of severe polyhydramnios. Twenty- nine [82.9%] patients had severe polyhydramnios with congenital defects; predominantly the central nervous system [CNS], gastrointestinal tract, multiple system defects, and others. Only CNS abnormalities had a comparatively greater prevalence [51.4%]. There were significant statistical differences between polyhydramnios and normal fluid groups [p<0.001]

Conclusion: ultrasonography accurately evaluates pregnancy complicated by polyhydramnios and has prognostic implications. Cases with congenital anomalies have higher rates of severe polyhydramnios prejudice alarming for the obstetrician for possible CNS and gastrointestinal tract abnormalities

Idiopathic origin of meconium peritonitis.

A 26-year-old, gravida 3 presented at 31 weeks of gestation with polyhydramnios. On ultrasound there was marked foetal ascitis with unilateral hydrocele. Patient delivered a 3.15 kg, large-for-date baby at 33 weeks and 3 days of gestation. On basis of clinical, radiological and sonographic features, diagnosis of meconium peritonitis was made. Ascitic tapping was done. Surgery was withheld, as there were no signs of intestinal obstruction. DNA testing for cystic fibrosis was negative. Baby did not deteriorate so he was discharged. Baby was doing well on 2 months follow up. Hydrocele and ascitis were resolving. Rarely meconium peritonitis may occur without an underlying cause when peritonitis may be innocuous and intervention may not be required.